Genomes and Genes
Summary: A heterogeneous group of disorders with common symptoms of apparent HYPOALDOSTERONISM despite the elevated levels of ALDOSTERONE and RENIN. Other clinical symptoms include HYPERKALEMIA with (Type I) or without (Type II) sodium wasting. Pseudohypoaldosteronism can be the result of defective MINERALOCORTICOID RECEPTORS or defects in the epithelial SODIUM CHANNEL. It can also be acquired after KIDNEY TRANSPLANTATION.
Publications176 found, 100 shown here
- [Pseudohypoaldosteronism type I]Akira Endoh
Department of Pediatrics, Hamamatsu Medical Center
Nihon Rinsho . 2006
- Human hypertension caused by mutations in WNK kinasesF H Wilson
Howard Hughes Medical Institute Yale University School of Medicine, Boyer Center for Molecular Medicine, 295 Congress Avenue, New Haven, CT 06510 USA
Science 293:1107-12. 2001..Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and ..
- KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronHélène Louis-Dit-Picard
Institut National de la Sante et de la Recherche Medicale INSERM, Unité Mixte de Recherche Scientifique UMRS 970, Paris Centre de Recherche Cardiovasculaire PARCC, Paris, France
Nat Genet 44:456-60, S1-3. 2012..Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure...
- Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse modelSung Sen Yang
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo, Tokyo 113 8519, Japan
Cell Metab 5:331-44. 2007WNK1 and WNK4 mutations have been reported to cause pseudohypoaldosteronism type II (PHAII), an autosomal-dominant disorder characterized by hyperkalemia and hypertension...
- Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubuleMaria D Lalioti
Department of Genetics, Howard Hughes Medical, Institute, Yale University School of Medicine, New Haven, Connecticut 06520, USA
Nat Genet 38:1124-32. 2006..Mutations in the gene encoding the kinase WNK4 cause pseudohypoaldosteronism type II (PHAII), a syndrome featuring hypertension and hyperkalemia...
- WNK4 regulates the balance between renal NaCl reabsorption and K+ secretionKristopher T Kahle
Howard Hughes Medical Institute, 300 Cedar Street, TAC S 341D, and Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Nat Genet 35:372-6. 2003..WNK4 in this process; clustered mutations in PRKWNK4, encoding WNK4, cause hypertension and hyperkalemia (pseudohypoaldosteronism type II, PHAII) by altering renal NaCl and K+ handling...
- WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivoAaron M Ring
Departments of Genetics, Medicine, and Molecular Biophysics and Biochemistry, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
Proc Natl Acad Sci U S A 104:4020-4. 2007..Previous work has shown that mutations in WNK4 cause pseudohypoaldosteronism type II (PHAII), a disease featuring hypertension with hyperkalemia, due to altered activity of specific ..
- Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascadeMotoko Chiga
Department of Nephrology, Tokyo Medical and Dental University, Tokyo 113 8519, Japan
J Cell Sci 124:1391-5. 2011..NCC) in Wnk4(D561A/+) knock-in mice, an ideal model of the human hereditary hypertensive disease pseudohypoaldosteronism type II (PHAII)...
- Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1Edwige Ludiwyne Hubert
INSERM, U970, Paris Cardiovascular Research Center PARCC, 56, rue Leblanc, 75015 Paris, France
J Am Soc Nephrol 22:1997-2003. 2011b>Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy...
- Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral densityHaim Mayan
Department of Medicine E, Institute of Endocrinology, Sheba Medical Center, Tel Aviv University, Tel Hashomer 52621, Israel
J Clin Endocrinol Metab 87:3248-54. 2002Mutations in WNK kinases cause pseudohypoaldosteronism type II (PHA II) and may represent a novel signaling pathway regulating blood pressure and K(+) and H(+) homeostasis...
- Mechanisms of type I and type II pseudohypoaldosteronismSeth B Furgeson
Division of Renal Diseases and Hypertension, Department of Medicine, University of Colorado Denver, 12700 E 19th Avenue, C281, Aurora, CO 80045, USA
J Am Soc Nephrol 21:1842-5. 2010b>Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney...
- Transient pseudohypoaldosteronism masquerading as congenital adrenal hyperplasiaL Manikam
Wolverhampton University, Wolverhampton, West Midlands, UK
Ann Clin Biochem 48:380-2. 2011..abnormalities who presented with profound hyponatraemia and hyperkalaemia due to transient type 1 pseudohypoaldosteronism (PHA) precipitated by a urinary tract infection (UTI), which responded rapidly to intravenous saline and ..
- A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1Mirjam Dirlewanger
Pediatric Endocrine and Diabetes Unit, Dept of the Child and Adolescent, Hopital des Enfants, Geneva, Switzerland
Am J Physiol Endocrinol Metab 301:E467-73. 2011b>Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disorder of mineralocorticoid resistance characterized by salt wasting, hyperkalemia, high aldosterone levels, and failure to thrive...
- Critical points in the management of pseudohypoaldosteronism type 1Tulay Guran
Zeynep Kamil Maternity and Childrens Diseases Training and Research Hospital, Division of Pediatric Endocrinology and Diabetes, Istanbul, Turkey
J Clin Res Pediatr Endocrinol 3:98-100. 2011b>Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport...
- Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handlingGregory Proctor
Division of Nephrology, University of Colorado Health Sciences Center, Denver, CO, USA
Am J Kidney Dis 48:674-93. 2006
- Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1Bahareh Schweiger
Department of Pediatrics, Divisions of Pediatric Endocrinology, University of Colorado Denver, The Children s Hospital, 13123 E 16th Ave, Aurora, CO 80045, USA
Curr Opin Pediatr 21:269-71. 2009..We report a newborn with severe hyperkalemia and hyponatremia from autosomal recessive pseudohypoaldosteronism type 1 requiring aggressive therapy...
- Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronismLeyla Akin
Department of Pediatric Endocrinology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Horm Res Paediatr 74:72-5. 2010..Thus, aldosterone synthase deficiency was excluded and pseudohypoaldosteronism (PHA) was suggested...
- Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channelC Schaedel
Department of Pediatrics, University Hospital in Lund, Lund University, Lund, Sweden
J Pediatr 135:739-45. 1999To study patients with autosomal recessive pseudohypoaldosteronism type 1 and to relate pulmonary disease to gene mutations of the epithelial sodium channel (ENaC).
- Regulation of WNK1 kinase by extracellular potassiumShotaro Naito
Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo, Tokyo 113 8519, Japan
Clin Exp Nephrol 15:195-202. 2011Mutations of WNK kinase genes were identified as the cause of a hereditary hypertensive disease, pseudohypoaldosteronism type II; however, little is known about the regulation of WNK kinases...
- A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronismOlivier Bonny
Institut de Pharmacologie et de Toxicologie, Universite de Lausanne, Lausanne, Switzerland
Pediatr Nephrol 17:804-8. 2002Type I pseudohypoaldosteronism (PHA-1) is a rare salt wasting syndrome occurring soon after birth, characterized by apathy and severe dehydration accompanied by hyponatremia, hyperkalemia, and metabolic acidosis despite high plasma ..
- Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronismAmy Urbatsch
Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama 35233, USA
Pediatr Dermatol 19:317-9. 2002Type I pseudohypoaldosteronism, an autosomal recessive, life-threatening disorder of mineralocorticoid resistance leads to excessive loss of sodium chloride through eccrine and other secretions...
- Reversible secondary pseudohypoaldosteronismToru Watanabe
Pediatr Nephrol 18:486. 2003
- Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunitChristie P Thomas
Department of Internal Medicine, University of Iowa, Iowa City, Iowa 52242 1081, USA
Am J Respir Cell Mol Biol 27:314-9. 2002Systemic pseudohypoaldosteronism type I (PHAI) is an autosomal recessive disorder that arises from loss of function mutations of the alpha, beta, or gamma subunit of Epithelial Na(+) Channel (ENaC)...
- Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneityFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts University Kiel, Germany
J Clin Endocrinol Metab 88:1683-6. 2003b>Pseudohypoaldosteronism (PHA) type 1 presents in infancy with potential life-threatening salt wasting and failure to thrive. Plasma renin activity and aldosterone levels are markedly elevated...
- A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1T Tajima
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060 8638, Japan
J Clin Endocrinol Metab 85:4690-4. 2000b>Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by neonatal salt loss with dehydration, hypotension, hyperkalemia, and metabolic acidosis, despite elevated plasma aldosterone levels and PRA...
- Transient pseudohypoaldosteronism with hyponatremia-hyperkalemia in infant urinary tract infectionEdgar J Schoen
Department of Genetics and Division of Research, Kaiser Permanente Medical Care Program of Northern California, Oakland 94611 5693, USA
J Urol 167:680-2. 2002We describe an uncircumcised male infant and a female neonate treated for infant urinary tract infection who had multiple hormonal and electrolyte abnormalities consistent with the diagnosis of transient pseudohypoaldosteronism.
- Clinical and biochemical similarities between reflux/obstructive uropathy and salt-wasting congenital adrenal hyperplasiaLucy D Mastrandrea
Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, and The Women s and Children s Hospital, Buffalo, New York, NY 14222, USA
Clin Pediatr (Phila) 44:809-12. 2005
- Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defectsU Kuhnle
University of Munich, Children s Hospital, West Germany
J Clin Endocrinol Metab 70:638-41. 1990b>Pseudohypoaldosteronism is a rare hereditary disorder presenting in early infancy with renal salt loss leading to hyponatremia and hyperkalemia despite high levels of plasma aldosterone...
- No evidence of hearing loss in pseudohypoaldosteronism type 1 patientsTheo A Peters
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Acta Otolaryngol 126:237-9. 2006The fact that pseudohypoaldosteronism type 1 (PHA-1) patients with a defect in the alpha subunit of epithelial sodium channels (ENaC) in the cochlea have normal hearing suggests compensation by alternative sodium transport mechanisms...
- Clinical and molecular features of type 1 pseudohypoaldosteronismFelix G Riepe
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts University, University Hospital Schleswig Holstein, Kiel, Germany
Horm Res 72:1-9. 2009b>Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion...
- Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronismP Sartorato
INSERM U 478, Faculte de Medecine Xavier Bichat, B P 416, 16 rue Henri Huchard, 75870 Paris Cedex 18, France
Mol Cell Endocrinol 217:119-25. 2004Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive...
- Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1S S Chang
Howard Hughes Medical Institute, Department of Genetics, Boyer Center for Molecular Medicine
Nat Genet 12:248-53. 1996Autosomal recessive pseudohypoaldosteronism type I is a rare life-threatening disease characterized by severe neonatal salt wasting, hyperkalaemia, metabolic acidosis, and unresponsiveness to mineralocorticoid hormones...
- Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindredsM Viemann
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts University of Kiel, Germany
J Clin Endocrinol Metab 86:2056-9. 2001b>Pseudohypoaldosteronism type 1 (PHA1) is characterized by neonatal salt wasting resistant to mineralocorticoids...
- A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronismKandai Nozu
Department of Pediatrics, Kobe University Graduate School of Medicine, and Shinko Hospital, Kobe 650 0017, Kusunokicho 7 5 1, Chuo, Kobe, Hyogo, Japan
Pediatr Nephrol 22:1219-23. 2007..mEq/l), hyponatremia, and metabolic acidosis detected in the early postnatal period led to a diagnosis of pseudohypoaldosteronism (PHA)...
- Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channelS Pradervand
Institut de Pharmacologie et de Toxicologie, Universite de Lausanne, Rue du Bugnon 27, 1005 Lausanne, Switzerland
Proc Natl Acad Sci U S A 96:1732-7. 1999..reduced ENaC activity in colon and elevated plasma aldosterone levels, suggesting hypovolemia and pseudohypoaldosteronism type 1...
- Final diagnosis: transient pseudohypoaldosteronism (TPH) caused by UTI without concordant obstructive uropathyDouglas Rogers
Section of Pediatric and Adolescent Endocrinology, The Cleveland Clinic, Cleveland, Ohio 44195, USA
Clin Pediatr (Phila) 47:405-8. 2008
- WNK1 activates SGK1 to regulate the epithelial sodium channelBing E Xu
Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX 75390 9041, USA
Proc Natl Acad Sci U S A 102:10315-20. 2005..Intronic deletions increase the expression of WNK1 in humans and cause pseudohypoaldosteronism type II, a form of hypertension...
- Transient Pseudohypoaldosteronism in an infant with urinary tract anomalyFiliz Tutunculer
Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Growth Development and Pediatric Endocrinology Unit, Istanbul, Turkey
Pediatr Int 46:618-20. 2004
- Transient pseudohypoaldosteronism secondary to posterior urethral valves--a case report and review of the literatureG Bülchmann
Kinderchirurgische Klinik im Dr von Haunerschen Kinderspital, Klinikum Innenstadt der Universität München, Munchen, Germany
Eur J Pediatr Surg 11:277-9. 2001In transient pseudohypoaldosteronism (TPHA), renal tubular resistance to aldosterone is thought to be secondary to renal disease...
- A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 geneAmir P Golbang
Clinical Pharmacology Unit, University of Cambridge, United Kingdom
Hypertension 46:295-300. 2005We identified a new kindred with the familial syndrome of hypertension and hyperkalemia (pseudohypoaldosteronism type II or Gordon's syndrome) containing an affected father and son...
- Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1Felix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 91:4552-61. 2006b>Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting syndrome. Mutations in the NR3C2 gene coding for the mineralocorticoid receptor (MR) cause autosomal dominant PHA1.
- Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genesAnjana Saxena
Department of Chemical Engineering and Biotechnology, The College of Judea and Samaria, Ariel 44837, Israel
J Clin Endocrinol Metab 87:3344-50. 2002Multisystem pseudohypoaldosteronism (PHA), is a syndrome of unresponsiveness to aldosterone with autosomal recessive inheritance...
- Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor geneFelix G Riepe
Department of Pediatrics, Christian Albrechts University Kiel, D 24105 Kiel, Germany
J Clin Endocrinol Metab 89:2150-2. 2004b>Pseudohypoaldosteronism type 1 (PHA1) is a rare congenital disease inherited in either an autosomal-recessive or an autosomal-dominant trait...
- Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adultsDavid S Geller
Section of Nephrology, Yale University School of Medicine, PO Box 208029, New Haven, CT 06520 8029, USA
J Am Soc Nephrol 17:1429-36. 2006Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis...
- A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1)A M Nyström
Department of Genetics and Pathology, Uppsala University, S 751 85 Uppsala, Sweden
J Clin Endocrinol Metab 89:227-31. 2004b>Pseudohypoaldosteronism type I (PHA1) is a condition associated with salt wasting leading to dehydration, hypotension, hyperkalemia, and metabolic acidosis...
- Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronismKeiko Arai
Department of Physiology, Nippon Medical School, 1 1 5 Sendagi, Bunkyo ku, Tokyo 113 8602, Japan
Hum Genet 112:91-7. 2003b>Pseudohypoaldosteronism (PHA) is characterized by urinary salt-wasting in infancy resulting from a congenital resistance to aldosterone involving the genes for the mineralocorticoid receptor (MR) and the amiloride-sensitive sodium ..
- Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronismPaola Sartorato
Institut National de la Sante et de la Recherche Medicale, Unité 478, Faculte de Medecine Xavier Bichat, 75018 Paris, France
J Clin Endocrinol Metab 88:2508-17. 2003..the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and ..
- Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronismLucie Pujo
Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Department of Genetics, Paris, France
Hum Mutat 28:33-40. 2007Aldosterone plays a key role in electrolyte balance and blood pressure regulation. Type 1 pseudohypoaldosteronism (PHA1) is a primary form of mineralocorticoid resistance characterized in the newborn by salt wasting, hyperkalemia, and ..
- A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channelS Grunder
Institut de Pharmacologie et de Toxicologie de l Université, Lausanne, Switzerland
EMBO J 16:899-907. 1997b>Pseudohypoaldosteronism type 1 (PHA-1) is an inherited disease characterized by severe neonatal salt-wasting and caused by mutations in subunits of the amiloride-sensitive epithelial sodium channel (ENaC)...
- A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronismE Hummler
Institut de Pharmacologie et de Toxicologie de l Université, Rue du Bugnon 27, CH 1005 Lausanne, Switzerland
Proc Natl Acad Sci U S A 94:11710-5. 1997..In human, autosomal recessive mutations of alpha, beta, or gammaENaC subunits cause pseudohypoaldosteronism type 1 (PHA-1), a renal salt-wasting syndrome characterized by severe hypovolemia, high plasma ..
- Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type ID S Geller
Howard Hughes Medical Institute, Department of Medicine, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Nat Genet 19:279-81. 1998b>Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist...
- Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronismP M Barker
University of North Carolina at Chapel Hill, School of Medicine, Chapel Hill, North Carolina 27599 7220, USA
J Clin Invest 102:1634-40. 1998..The gammaENaC (-/-) newborn exhibits a phenotype that resembles the clinical manifestations of human neonatal PHA1...
- A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1Noriko Uchida
Department of Pediatrics, Nagano Red Cross Hospital, Wakasato 5 22 1, Nagano 380 8582, Japan
J Pediatr Endocrinol Metab 22:91-5. 2009b>Pseudohypoaldosteronism type 1 (PHA1) is a rare congenital disease characterized by salt loss resistant to mineralocorticoids. Most patients are identified by failure to thrive or poor weight gain in early infancy...
- Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?K Arai
Department of Physiology, Nippon Medical School, Tokyo, Japan
J Clin Endocrinol Metab 84:2434-7. 1999b>Pseudohypoaldosteronism (PHA) is characterized by congenital resistance of the kidney and/or other mineralocorticoid target tissues to aldosterone, resulting in excessive salt wasting...
- Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genesAaron Hanukoglu
Division of Pediatric Endocrinology, E Wolfson Medical Center, Holon, Tel Aviv, Israel
J Steroid Biochem Mol Biol 111:268-74. 2008Multi-system pseudohypoaldosteronism (PHA) is a rare syndrome of aldosterone unresponsiveness characterized by symptoms of severe salt-losing caused by mutations in one of the genes that encode alpha, beta or gamma subunit of epithelial ..
- A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 familiesS S Strautnieks
Department of Paeudiatrics, University College London Medical School, Rayne Institute, UK
Nat Genet 13:248-50. 1996b>Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineralocorticoids...
- Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1Antonio Balsamo
Division of Pediatric Endocrinology, Department of Pediatrics, Policlinico S Orsola Malpighi, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
Eur J Endocrinol 156:249-56. 2007The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2).
- Targeted disruption of the Wnk4 gene decreases phosphorylation of Na-Cl cotransporter, increases Na excretion and lowers blood pressureAkihito Ohta
Department of Nephrology, Tokyo Medical and Dental University, Japan
Hum Mol Genet 18:3978-86. 2009We recently generated Wnk4(D561A/+) knockin mice and found that a major pathogenesis of pseudohypoaldosteronism type II was the activation of the OSR1/SPAK kinase-NaCl cotransporter (NCC) phosphorylation cascade by the mutant WNK4...
- Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronismOded Edelheit
Department of Molecular Biology, College of Judea and Samaria, Ariel, Israel
Clin Endocrinol (Oxf) 62:547-53. 2005Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits alpha, beta and gamma...
- Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotypeF J McDonald
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Proc Natl Acad Sci U S A 96:1727-31. 1999..The phenotype of the betaENaC-deficient mice is similar to that of humans with pseudohypoaldosteronism type 1 and may provide a useful model to study the pathogenesis and treatment of this disorder.
- Reversible secondary pseudohypoaldosteronism due to pyelonephritisKenichi Maruyama
Division of Nephrology, Gunma Children s Medical Center, 779 Shimohakoda, Hokkitsu, Gunma 377 8577, Japan
Pediatr Nephrol 17:1069-70. 2002..An endocrinological evaluation led to a diagnosis of pseudohypoaldosteronism. The patient had phimosis, but no congenital urinary tract malformations...
- A case of hypertension and hyperkalaemiaAtef B Michael
Department of Geriatric Medicine, Queen s Hospital, Burton on Trent, Staffordshire DE13 0RP
Hosp Med 65:374-5. 2004
- Mineralocorticoid resistanceMaria Christina Zennaro
Institut National de la Sante et de la Recherche Medicale, Unité 478, Faculte de Medecine, Xavier Bichat, B P 416, 16 rue H Huchard, 75870 Paris 18, France
Trends Endocrinol Metab 15:264-70. 2004Mineralocorticoid resistance, also known as type I pseudohypoaldosteronism (PHA1), is a rare inherited disease characterized by salt wasting, dehydration and failure to thrive in the newborn...
- New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand bindingPaola Sartorato
Institut National de la Santé et de la Recherche Médicale U478, Faculte de Medecine Xavier Bichat, B P 416, 16, rue Henri Huchard, 75870 Paris Cedex 18, France
Mol Endocrinol 18:2151-65. 2004..domain and the ligand-binding domain (LBD) and are associated with autosomal dominant or sporadic type I pseudohypoaldosteronism. All mutant receptors bound specifically to glucocorticoid-responsive elements but presented modified ..
- [Mineralocorticoid resistance: pseudohypoaldosteronism type 1]Fabio L Fernandes-Rosa
Departamento de Puericultura e Pediatria, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, SP
Arq Bras Endocrinol Metabol 51:373-81. 2007b>Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive...
- Cellular mechanisms of WNK4-mediated regulation of ion transport proteins in the distal tubuleJ B Peng
Nephrology Research and Training Center, Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294 0017, USA
Kidney Int 69:2116-8. 2006..Cai et al. report that the inhibitory effect of WNK4 on the thiazide-sensitive sodium-chloride cotransporter occurs through the lysosomal degradation pathway in mammalian cells...
- A WNK in the kidney controls blood pressureThomas M Coffman
Nat Genet 38:1105-6. 2006
- Increased urinary Na-Cl cotransporter protein in familial hyperkalaemia and hypertensionHaim Mayan
Department of Medicine E, Sheba Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Hashomer 52621 Israel
Nephrol Dial Transplant 23:492-6. 2008Familial hyperkalaemia and hypertension (FHH), also termed pseudohypoaldosteronism type II, is a rare monogenic form of hypertension caused by mutations in the WNK1 or WNK4 kinases...
- A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndromeMichael Freundlich
Department of Pediatrics, University of Miami, Miami, Florida, USA
Pediatr Nephrol 20:512-5. 2005..Liddle syndrome should be considered as a cause of hypertension in young children particularly with suppressed renin activity...
- WNK kinases and essential hypertensionChou Long Huang
Department of Medicine, Division of Nephrology, UT Southwestern Medical Center, Dallas, Texas 75390 8856, USA
Curr Opin Nephrol Hypertens 17:133-7. 2008..The present review summarizes recent literature and discusses the potential roles of WNKs in the pathogenesis of essential hypertension...
- [Pseudohypoaldosteronism: Pathogenesis, pathophysiology, and therapy]Keiko Arai
Nihon Rinsho 64:517-21. 2006
- [Molecular mechanisms underlying renal hypertension]Tsuneo Takenaka
Department of Nephrology, Saitama Medical College
Nihon Rinsho 64:381-4. 2006
- Silencing of the mineralocorticoid receptor by ribonucleic acid interference in transgenic rats disrupts endocrine homeostasisHee Young Lim
University of Wurzburg, Wurzburg, Germany
Mol Endocrinol 22:1304-11. 2008..also allowed obtaining adult knockdown rats with defects in hormone and electrolyte homeostasis resembling pseudohypoaldosteronism. In conclusion, this is the first example of a human disease model based on RNA interference in rats.
- Pseudohypoaldosteronisms, report on a 10-patient seriesAlexandre Belot
Departement de Pediatrie, Hopital Edouard Herriot, 69437 Lyon Cedex 03, France
Nephrol Dial Transplant 23:1636-41. 2008Type 1 pseudohypoaldosteronism (PHA1) is a salt-wasting syndrome caused by mineralocorticoid resistance...
- [Pseudohypoaldosteronism in infants with salt wasting syndrome. Two case reports]Mieczysław Szalecki
Oddział Endokrynologiczno Diabetologiczny Wojewódzkiego Specjalistycznego Szpitala Dzieciecego w Kielcach
Pediatr Endocrinol Diabetes Metab 13:33-6. 2007..high excretion of aldosterone metabolite THAldo without effects of aldosterone action, what resulted in pseudohypoaldosteronism (PHA) diagnosis...
- Mineralocorticoid resistanceDavid S Geller
Section of Nephrology, Yale University School of Medicine, New Haven, CT 06520 8029, USA
Clin Endocrinol (Oxf) 62:513-20. 2005....
- Newborn with pseudohypoaldosteronism and miliaria rubraMustafa Akcakus
Department of Pediatrics, Division of Neonatology, School of Medicine, Erciyes University, Kayseri, Turkey
Int J Dermatol 45:1432-4. 2006
- WNKs: protein kinases with a unique kinase domainChou Long Huang
Department of Medicine, University of Texas, Southwestern Medical Center, Dallas, Texas 75390, USA
Exp Mol Med 39:565-73. 2007..Here, we review roles of WNK kinases in the regulation of ion balance, cell signaling, survival, and proliferation, and embryonic organ development...
- Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor geneFabio L Fernandes-Rosa
Department of Pediatrics, School of Medicine of Ribeirao Preto, Avenida Bandeirantes, 3900 Ribeirao Preto, 14049 900 Sao Paulo, Brazil
J Clin Endocrinol Metab 91:3671-5. 2006The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by congenital mineralocorticoid resistance of the kidney...
- Cyclosporine a and FK506 inhibit transcriptional activity of the human mineralocorticoid receptor: a cell-based model to investigate partial aldosterone resistance in kidney transplantationChristine E Deppe
INSERM, U 478, IFR02, Faculte de Medecine Xavier Bichat, 16 rue Henri Huchard, BP 416, 75870 Paris Cedex 18, France
Endocrinology 143:1932-41. 2002..They suggest that ion transport alterations in renal graft recipients are in part induced by impaired hMR function...
- Implication of ENaC in salt-sensitive hypertensionE Hummler
Institut de Pharmacologie et de Toxicologie, Universite de Lausanne, Switzerland
J Steroid Biochem Mol Biol 69:385-90. 1999..regulation has come from the molecular analysis of two human genetic diseases, Liddle's syndrome and pseudohypoaldosteronism type 1 (PHA-1)...
- Familial hyperkalemic hypertension: phenotypic analysis in a large family with the WNK1 deletion mutationJean Michel Achard
Department of Physiology, University of Limoges, France
Am J Med 114:495-8. 2003
- [Genetic disorders caused by gain or loss of function of the mineralocorticoid receptor]Keiko Arai
Department of Physiology, Nippon Medical School
Nihon Rinsho 60:361-6. 2002..This mutation results in constitutive MR activity and alters receptor specificity for progesterone. Pseudohypoaldosteronism type 1 (PHA1) is characterized by congenital aldosterone resistance of the kidney and/or other ..
- Epithelial sodium channel, salt intake, and hypertensionEdith Hummler
Institut de Pharmacologie et de Toxicologie, Universite de Lausanne, Rue du Bugnon 27, CH 1005 Lausanne, Switzerland
Curr Hypertens Rep 5:11-8. 2003..function in Liddle's syndrome, a form of hereditary hypertension, or by decreasing channel function in pseudohypoaldosteronism type I, a salt-wasting disease in infancy...
- Human hypertension caused by mutations in WNK kinasesNorman K Hollenberg
Harvard Medical School, Brigham and Women s Hospital, Department of Radiology, Boston, MA 02115, USA
Curr Hypertens Rep 4:267. 2002
- Genetic heterogeneity of familial hyperkalaemic hypertensionS Disse-Nicodeme
INSERM U36, , Paris
J Hypertens 19:1957-64. 2001..CONCLUSION : These results demonstrate further genetic heterogeneity and that a fourth gene is responsible for FHH in at least two unrelated kindreds. They suggest a variety of molecular defects leading to FHH...
- Dysfunction of epithelial sodium transport: from human to mouseO Bonny
Institut de Pharmacologie et de Toxicologie, Universite de Lausanne, Lausanne, Switzerland
Kidney Int 57:1313-8. 2000..diseases: Liddle's syndrome, a severe form of hypertension associated with ENaC hyperfunction, and pseudohypoaldosteronism (PHA-1), a salt-wasting syndrome caused by decreased ENaC function...
- The molecular basis of hypertensionHakan R Toka
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA
Turk J Pediatr 44:183-93. 2002..alterations in genes of a novel serine-threonine kinase family (WNK1 and WNK4) were identified causing pseudohypoaldosteronism type II. The molecular pathway of this syndrome remains unclear...
- Monogenic forms of human hypertensionHakan R Toka
Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
Semin Nephrol 22:81-8. 2002..Loss-of-function mutations in all 3 subunits of ENaC cause hypotension (pseudohypoaldosteronism type I). Thus, all 3 subunits can be mutated, causing either hyper- or hypotension...
- A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertensionS Disse-Nicodeme
INSERM U36, College de France, Paris
Am J Hum Genet 67:302-10. 2000b>Pseudohypoaldosteronism type II (PHA2) is a rare autosomal dominant form of volume-dependent low-renin hypertension characterized by hyperkalemia and hyperchloremic acidosis but also by a normal glomerular filtration rate...
- Erythrocyte Na+,K+-ATPase and nasal potential in pseudohypoaldosteronismTzvy Bistritzer
Department of Pediatrics, Assaf Harofeh Medical Center, Zerifin 70300, Israel
Clin Endocrinol (Oxf) 56:575-80. 2002b>Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder characterized by salt-wasting due to target organ unresponsiveness to mineralocorticoids...
- Hyper- and hypoaldosteronismD J Torpy
National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Vitam Horm 57:177-216. 1999..synthesis of aldosterone, or resistance to the ion transport effects of aldosterone, such as are seen in pseudohypoaldosteronism type I (PHA I)...
- Effects of mineralocorticoid receptor gene disruption on the components of the renin-angiotensin system in 8-day-old miceC Hubert
INSERM U36 Laboratoire de Médecine Expérimentale, College de France, Paris
Mol Endocrinol 13:297-306. 1999Targeted disruption of mineralocorticoid receptor (MR) gene results in pseudohypoaldosteronism type I with failure to thrive, severe dehydration, hyperkalemia, hyponatremia, and high plasma levels of renin, angiotensin II, and ..
- Presumptive pseudohypoaldosteronism secondary to chronic urinary tract obstruction from sloughed urinary bladder mucosa and urinary tract infection in a catLisa M Mahlum
Emergency and Critical Care Department, Angell Animal Medical Center AAMC, Boston, MA 02130, USA
J Vet Emerg Crit Care (San Antonio) 20:601-10. 2010To describe a case of presumptive secondary pseudohypoaldosteronism (PHA) in a cat with urinary tract infection and chronic urethral obstruction...
- Hypothesis: a simple algorithm to distinguish between hypoaldosteronism and renal aldosterone resistance in patients with persistent hyperkalemiaWilliam R Adam
University of Melbourne, School of Rural Health, Shepparton, Victoria, Australia
Nephrology (Carlton) 13:459-64. 2008....
- WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epitheliaKeith A Choate
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, 295 Congress Avenue, New Haven, CT 06510, USA
Proc Natl Acad Sci U S A 100:663-8. 2003..genes encoding members of a novel family of serine-threonine kinases, have recently been shown to cause pseudohypoaldosteronism type II (PHAII), an autosomal dominant disorder featuring hypertension, hyperkalemia, and renal tubular ..
- Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor geneLindsey A Loomba-Albrecht
Department of Pediatrics, Division of Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817 2208, USA
Horm Res Paediatr 73:482-6. 2010Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period...
- Genetic variants of WNK4 in whites and African Americans with hypertensionPorat M Erlich
Department of Medicine, Boston University School of Medicine, Boston, Mass, USA
Hypertension 41:1191-5. 2003..This region contains the WNK4 gene that causes the mendelian disorder pseudohypoaldosteronism type II, characterized by high potassium levels and hypertension...
- Rescue of the mineralocorticoid receptor knock-out mouseM Bleich
Physiologisches Institut der Albert Ludwigs Universität Freiburg, Hermann Herder Str 7, D 79104 Freiburg, Germany
Pflugers Arch 438:245-54. 1999The mineralocorticoid receptor knock-out mouse (MR-/-), resembling inborn pseudohypoaldosteronism, dies 8-12 days after birth in circulatory failure with all the signs of terminal volume contraction...
- Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathwayPedro San-Cristobal
Molecular Physiology Unit, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Universidad Nacional Autonoma de Mexico, Tlalpan 14000 Mexico City, Mexico
Proc Natl Acad Sci U S A 106:4384-9. 2009Mutations in the kinase WNK4 cause pseudohypoaldosteronism type II (PHAII), a syndrome featuring hypertension and high serum K(+) levels (hyperkalemia)...
- Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4Frederick H Wilson
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
Proc Natl Acad Sci U S A 100:680-4. 2003..in the serine-threonine kinases WNK1 and WNK4 [with no lysine (K) at a key catalytic residue] cause pseudohypoaldosteronism type II (PHAII), a Mendelian disease featuring hypertension, hyperkalemia, hyperchloremia, and metabolic ..
- Sodium Chloride Cotransporter Regulation by WNK KinaseHui Cai; Fiscal Year: 2006..Mutations in WNK1 and WNK4 kinases are found to cause pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome...
- STRUCTURE AND REGULATION OF EPITHELIAL SODIUM CHANNELSCecilia Canessa; Fiscal Year: 2002..syndrome), or conversely, decrease activity of channels leading to salt-wasting and hypovolemic states (pseudohypoaldosteronism)...
- Epigenic Control of ENaC Transcription and Sodium TransportWenzheng Zhang; Fiscal Year: 2010..The association of ENaC mutations with Liddle's syndrome and PHA-1 (pseudohypoaldosteronism type 1) as well as the tight and complex regulation of ENaC by aldosterone indicates the importance of ..
- Epigenic Control of ENaC Transcription and Sodium TransportWenzheng Zhang; Fiscal Year: 2009..The association of ENaC mutations with Liddle's syndrome and PHA-1 (pseudohypoaldosteronism type 1) as well as the tight and complex regulation of ENaC by aldosterone indicates the importance of ..
- ENaC & CFTR: Molecular Interactions in Health & DiseaseMADIREDDI REDDY; Fiscal Year: 2006..Abnormalities in channel functions can be life threatening in diseases such as Liddle's syndrome, pseudohypoaldosteronism (PHA), cystic fibrosis (CF) and renal and cardiovascular pathology...
- Regulation of thiazide-sensitive NaCl transportDavid Ellison; Fiscal Year: 2007..Recently, a hypertensive disorder, pseudohypoaldosteronism type II, has been shown to result from mutations in WNK (without lysine) kinases...
- The Function of Claudin-7 in Renal Epithelial CellsYan Hua Chen; Fiscal Year: 2009..Mutations in WNK4 kinase have been linked to hypertension in pseudohypoaldosteronism type II (PHAII)...
- The Function of Claudin-7 in Renal Epithelial CellsYan Hua Chen; Fiscal Year: 2010..Mutations in WNK4 kinase have been linked to hypertension in pseudohypoaldosteronism type II (PHAII)...
- Genetic Disorders of Mucociliary ClearanceMichael Knowles; Fiscal Year: 2007..clearance, specifically primary ciliary dyskinesia (PCD), variant forms of cystic fibrosis (CF), and pseudohypoaldosteronism (PHA)...
- MOLECULAR MECHANISM OF MINERALOCORTICOID RECEPTOR ACTIONGeza Fejes Toth; Fiscal Year: 2003..by aldosterone, but could also lead to the identification of genetic defects resulting in derangement of Na homeostasis, leading to hypertension (as in Liddle syndrome) or salt wasting (as in pseudohypoaldosteronism).
- The role of ppk ion channels in sensory detectionKRISTIN E SCOTT; Fiscal Year: 2010..underlie the pathophysiology of several important human diseases such as salt-sensitive hypertension and pseudohypoaldosteronism type I, and defects in these channels have been associated with cystic fibrosis and epilepsy...
- ENAC FUNCTION, REGULATION, AND ION PERMEATIONPeter Snyder; Fiscal Year: 2001..Loss of function mutations in hENaC cause Na+ wasting (pseudohypoaldosteronism type 1)...
- CELLULAR AND MOLECULAR BIOLOGY OF RENAL SODIUM CHANNELSBRUCE STANTON; Fiscal Year: 2001..Na homeostasis and blood pressure in normal and disease states including Liddle's syndrome and Type 1 pseudohypoaldosteronism (PHA1)...
- WNK1 regulation of renal NaCl cotransportArohan Subramanya; Fiscal Year: 2006Familial Hyperkalemic Hypertension (FHHt, also known as Type II Pseudohypoaldosteronism or Gordon's syndrome) is a disorder of elevated blood pressure and potassium levels, and is phenotypically the "mirror image" of Gitelman's syndrome...
- RENAL POTASSIUM TRANSPORT IN PHYSIOLOGY AND DISEASESChou Long Huang; Fiscal Year: 2001..The structural and functional constraints conferred by Bartter's mutation will be examined by screening libraries of ROMK constructed by saturation mutagenesis in a potassium uptake-defective yeast strains. ..
- RENAL POTASSIUM TRANSPORT IN PHYSIOLOGY AND DISEASESChou Long Huang; Fiscal Year: 2005..The biochemical studies will be correlated with electrophysiological recording of channel activity. ..
- Membrane Trafficking of Renal Potassium ChannelChou Long Huang; Fiscal Year: 2006..Biochemical binding assay and patch-clamp recording will be performed to examine this hypothesis. ..