inborn errors renal tubular transport

Summary

Summary: Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.

Top Publications

  1. Yoo T, Lee S, Yoon K, Baek H, Chung J, Lee T, et al. Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome. Am J Kidney Dis. 2003;42:E11-6 pubmed
    ..The authors emphasize that the combination of a molecular genetic approach and renal clearance study could be of practical benefit in confusing clinical setting and support new diagnostic criteria in GS...
  2. Lloyd S, Pearce S, Gunther W, Kawaguchi H, Igarashi T, Jentsch T, et al. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest. 1997;99:967-74 pubmed
    ..In addition, the mutational screening of CLCN5 by SSCP will help to supplement the clinical evaluation of the annual urinary screening program for this disorder...
  3. Hoopes R, Shrimpton A, Knohl S, Hueber P, Hoppe B, Matyus J, et al. Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005;76:260-7 pubmed
    ..It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised...
  4. Dai L, Ritchie G, Kerstan D, Kang H, Cole D, Quamme G. Magnesium transport in the renal distal convoluted tubule. Physiol Rev. 2001;81:51-84 pubmed
    ..Although it is clear that many influences affect Mg(2+) transport within the DCT, the transport processes have not been identified...
  5. Warnock D. Genetic forms of renal potassium and magnesium wasting. Am J Med. 2002;112:235-6 pubmed
  6. Loris Pablo C, Martín de Vicente C, Abio Albero S, Justa Roldán M, Ferrer Novella C. [Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]. An Pediatr (Barc). 2004;61:502-8 pubmed
  7. Bokenkamp A, Bockenhauer D, Cheong H, Hoppe B, Tasic V, Unwin R, et al. Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr. 2009;155:94-9 pubmed publisher
    ..To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome...
  8. Ellison D. Renal magnification by EGF. Nephrol Dial Transplant. 2008;23:1497-9 pubmed publisher
  9. Wakida N, Tuyen D, Adachi M, Miyoshi T, Nonoguchi H, Oka T, et al. Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. J Clin Endocrinol Metab. 2005;90:2169-74 pubmed
    ..Future studies are needed to identify a responsible gene for the postsecretory reabsorption defect-type familial renal hypouricemia...

More Information

Publications62

  1. Arhan E, Yusufoğlu A, Sayli T. Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur J Pediatr. 2009;168:995-8 pubmed publisher
    ..Many patients with different associations of cholestasis, renal tubular acidosis, and dysmorphic morphology may be underdiagnosed...
  2. Fujieda M, Yokoyama W, Oishi N, Okada T, Kurashige T, Hamada G. Acute renal failure after exercise in a child with renal hypouricemia. Acta Paediatr Jpn. 1995;37:642-4 pubmed
    ..The probenecid and pyrazinamide tests showed that the patient had a total defect of uric acid reabsorption. This case suggested that strenuous exercise could be responsible for acute renal failure in patients with renal hypouricemia...
  3. Gofrit O, Verstandig A, Pode D. Bilateral obstructing ureteral uric acid stones in an infant with hereditary renal hypouricemia. J Urol. 1993;149:1506-7 pubmed
    ..To our knowledge this is the youngest reported case of hereditary renal hypouricemia and 1 of the youngest patients to be treated with extracorporeal shock wave lithotripsy...
  4. Bundy J, Connito D, Mahoney M, Pontier P. Treatment of idiopathic renal magnesium wasting with amiloride. Am J Nephrol. 1995;15:75-7 pubmed
    ..This case demonstrates an effective treatment for idiopathic renal magnesium wasting...
  5. Rossi R, Danzebrink S, Linnenbürger K, Hillebrand D, Gruneberg M, Sablitzky V, et al. Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples. Acta Paediatr. 1994;83:1282-6 pubmed
    ..Renal tubular dysfunction can be diagnosed without timed urine specimens...
  6. Lyles K, Halsey D, Friedman N, Lobaugh B. Correlations of serum concentrations of 1,25-dihydroxyvitamin D, phosphorus, and parathyroid hormone in tumoral calcinosis. J Clin Endocrinol Metab. 1988;67:88-92 pubmed
    ..We postulate that although the basic defect in tumoral calcinosis most likely resides in the proximal renal tubular cell, the variation in serum phosphorus levels and possibly disease expression is modulated in part by PTH...
  7. Igarashi T. [Water electrolyte imbalance associated with kidney tubular transport inborn error]. Nihon Naika Gakkai Zasshi. 2003;92:818-25 pubmed
  8. Brakemeier S, Si H, Gollasch M, Hoffler D, Buhl M, Kohler R, et al. Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5. Clin Nephrol. 2004;62:387-90 pubmed
    ..Although this rare disease was suspected by means of the clinical features, it was genetic analysis that confirmed the diagnosis and revealed a novel mutation in the CLCN5 gene...
  9. Onishi A, Muto S, Homma S, Inaba T, Shuto R, Kusano E, et al. Pseudoaldosteronism with increased serum cortisol associated with pneumonia, hypouricemia, hypocalcemia, and hypophosphatemia. Clin Nephrol. 2010;74:403-8 pubmed
    ..In this patient, the increased circulating cortisol associated with the stress of inflammation caused by pneumonia triggered the development of pseudoaldosteronism...
  10. Tannen R, Sahai A. Biochemical pathways and modulators of renal ammoniagenesis. Miner Electrolyte Metab. 1990;16:249-58 pubmed
  11. Kuhnle U, Nielsen M, Tietze H, Schroeter C, Schlamp D, Bosson D, et al. Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J Clin Endocrinol Metab. 1990;70:638-41 pubmed
    ..It, therefore, appears that this dual pattern of genetic transmission may indicate differing genetic defects which cause the same clinical picture of pseudohypoaldosteronism...
  12. Truttmann A, Bettinelli A, Crosazzo L, Bianchetti M. Normomagnesemic Gitelman's syndrome?. Am J Kidney Dis. 2004;43:1143-4 pubmed
  13. Warnock D. Hereditary disorders of potassium homeostasis. Best Pract Res Clin Endocrinol Metab. 2003;17:505-27 pubmed
  14. Magen D, Adler L, Mandel H, Efrati E, Zelikovic I. Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome. Am J Kidney Dis. 2004;43:600-6 pubmed
  15. Puchades M, González Rico M, Pons S, Miguel A, Bonilla B. [Hypokalemic metabolic alkalosis: apropos of a case of Gitelman's syndrome]. Nefrologia. 2004;24 Suppl 3:72-5 pubmed
  16. Gadomska Prokop K, Konopielko Z. [Uric acid metabolism in children with hyperuricosuria]. Pol Merkur Lekarski. 2000;8:177-8 pubmed
    ..2. The maintenance of urine pH within normal values is the basic of treatment in children with hyperuricosuria. 3. In children suspected of tubular transport disturbances appropriate tests of uric acid metabolism should be performed...
  17. Bockenhauer D, Bokenkamp A, Van t Hoff W, Levtchenko E, Kist van Holthe J, Tasic V, et al. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. 2008;3:1430-6 pubmed publisher
    ..Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood...
  18. Zales V, Benson D. Reversible cardiomyopathy due to carnitine deficiency from renal tubular wasting. Pediatr Cardiol. 1995;16:76-8 pubmed
    ..He was begun on oral L-carnitine and weaned from mechanical ventilation and inotropic support 10 days later. Two years later he remains asymptomatic with normal left ventricular function...
  19. Dimke H, Hoenderop J, Bindels R. Hereditary tubular transport disorders: implications for renal handling of Ca2+ and Mg2+. Clin Sci (Lond). 2009;118:1-18 pubmed publisher
    ..These hereditary disorders have, in many cases, substantially increased our understanding of the complex transport processes in the kidney and their contribution to the regulation of overall Ca2+ and Mg2+ balance...
  20. Gafter U, Zuta A, Frydman M, Lewinski U, Levi J. Hypouricemia due to familial isolated renal tubular uricosuria. Evaluation with the combined pyrazinamide-probenecid test. Miner Electrolyte Metab. 1989;15:309-14 pubmed
    ..The combined pyrazinamide-probenecid test may cause a reduction in glomerular filtration rate and filtered load of urate and thereby affect urinary excretion rate of urate in patients with urate wasting...
  21. Wehling M, Kuhnle U, Daumer C, Armanini D. Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism. Clin Endocrinol (Oxf). 1989;31:597-605 pubmed
    ..These data suggest an autosomal dominant inheritance of pseudohypoaldosteronism with variable expression of the gene.(ABSTRACT TRUNCATED AT 250 WORDS)..
  22. Cessans C, Berthier M, Bonneau D, Millet C, Mettey R. [Congenital pseudohypoaldosteronism: apropos of 6 cases]. Pediatrie. 1989;44:649-54 pubmed
    ..Autosomal dominant and autosomal recessive modes of inheritance have been reported which probably correspond to different underlying mechanisms...
  23. de Filippi J, Diderich P, Wouters J. [Hypomagnesemia and chondrocalcinosis]. Ned Tijdschr Geneeskd. 1992;136:139-41 pubmed
    ..Magnesium supplementation prevented further symptoms. Therefore in young patients with chondrocalcinosis it can be of therapeutic importance to search for an underlying treatable metabolic disorder...
  24. Sha Q, Pearson W, Burcea L, Wigfall D, Schlesinger P, Nichols C, et al. Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel. Am J Physiol Renal Physiol. 2008;295:F91-9 pubmed publisher
  25. Peru H, Akin F, Elmas S, Elmaci A, Konrad M. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings. Pediatr Nephrol. 2008;23:1009-12 pubmed publisher
    ..Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe...
  26. Nijenhuis T, Vallon V, Van Der Kemp A, Loffing J, Hoenderop J, Bindels R. Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest. 2005;115:1651-8 pubmed
    ..Thus, Trpm6 downregulation may represent a general mechanism involved in the pathogenesis of hypomagnesemia accompanying NCC inhibition or inactivation...
  27. van der Wijst J, Glaudemans B, Venselaar H, Nair A, Forst A, Hoenderop J, et al. Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia. J Biol Chem. 2010;285:171-8 pubmed publisher
    ..Taken together, our data showed that an asparagine at position 255 in Kv1.1 is required for normal voltage dependence and kinetics of channel gating...
  28. Majander A, Suomalainen A, Vettenranta K, Sariola H, Perkkiö M, Holmberg C, et al. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res. 1991;30:327-30 pubmed
    ..Decreased respiratory chain enzyme activities were demonstrated in muscle, and an mtDNA deletion was demonstrated in muscle, kidney, leukocytes, and fibroblasts...
  29. Bermúdez de la Vega J, Camacho Gonzalez F, Gonzalez Hachero J, Estefanía Gallardo C, Bonilla Abascal G. [Oculocerebrorenal sydrome of Lowe. Apropos of three cases]. An Esp Pediatr. 1990;32:344-8 pubmed
    ..Cases 2 and 3 are in a stabilized period, with a longer life expectation, although they suffer from residual moderate renal failure...
  30. Aberer E, Gebhart W, Mainitz M, Pollak A, Reichel G, Scheibenreiter S. [Sweat glands in pseudohypoaldosteronism]. Hautarzt. 1987;38:484-7 pubmed
    ..Destructive inflammatory reactions could be demonstrated histologically within and around the dermal sweat glands, thus indicating the important role of the sweat system in the pathogenesis of skin lesions in pseudohypoaldosteronism...
  31. Chandar J, Abitbol C, Zilleruelo G, Gosalbez R, Montane B, Strauss J. Renal tubular abnormalities in infants with hydronephrosis. J Urol. 1996;155:660-3 pubmed
    ..The frequency of these abnormalities, particularly in our infant population, was the impetus for our study...
  32. Kamel K, Oh M, Halperin M. Bartter's, Gitelman's, and Gordon's syndromes. From physiology to molecular biology and back, yet still some unanswered questions. Nephron. 2002;92 Suppl 1:18-27 pubmed
    ..Our objective is to integrate these new insights into an understanding of the pathophysiology of renal potassium handling. We also propose different ways to think about some of the unresolved issues in this area...
  33. Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus G G, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002;112:183-90 pubmed
    ..The aim of this study was to characterize the clinical features associated with each mutation in a large cohort of genetically defined patients...
  34. Ouwerkerk J, Boers Doets C. Best practices in the management of toxicities related to anti-EGFR agents for metastatic colorectal cancer. Eur J Oncol Nurs. 2010;14:337-49 pubmed publisher
    ..To provide oncology nurses with an overview of the toxicity management associated with the anti-epidermal growth factor receptor (EGFR) monoclonal antibodies cetuximab and panitumumab in patients with metastatic colorectal cancer...
  35. Wehling M, Kuhnle U, Witzgall H, Weber P, Armanini D. Lack of effect of aldosterone on intracellular sodium and potassium in mononuclear leucocytes from patients with pseudohypoaldosteronism. Clin Endocrinol (Oxf). 1988;28:67-74 pubmed
    ..However, normal baseline intracellular electrolyte concentrations in these patients may indicate that mineralocorticoids are not involved in the maintenance of normal levels of intracellular sodium and potassium...
  36. Grunfeld J, Joly D. [Hereditary kidney diseases in adults]. Rev Prat. 1997;47:1566-9 pubmed
    ..Finally renal involvement is frequent in a great variety of inherited metabolic (Fabry's disease, glycogen storage disease type 1, hyperuricemic nephropathy) or non-metabolic (nail-patella or Bardet-Biedl syndrome) diseases...
  37. Galesic K, Bozic B, Scukanec Spoljar M, Morovic Vergles J, Cvitkovic Kuzmic A, Ljubanovic D. Hypokalemic metabolic alkalosis--three case reports. Acta Med Croatica. 2001;55:219-23 pubmed
    ..Three patients with hypokalemia, normal blood pressure, metabolic alkalosis, hyperreninemia and hyperaldosteronism are described. Two patients had Bartter's syndrome and one patients had Gitelman's syndrome...
  38. Utsch B, Bokenkamp A, Benz M, Besbas N, Dotsch J, Franke I, et al. Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis. 2006;48:942.e1-14 pubmed
    ..A recent study showed that defects in OCRL1, encoding a phosphatidylinositol 4,5-bisphosphate 5-phosphatase (Ocrl) and usually found mutated in patients with Lowe syndrome, also can provoke a Dent-like phenotype (Dent 2 disease)...
  39. Hasegawa H, Takayanagi K, Mitarai T. [Disorders of renal tubular transport of amino acids, hexose and phosphate]. Nihon Rinsho. 2006;64 Suppl 2:522-7 pubmed
  40. Enomoto A, Endou H. Roles of organic anion transporters (OATs) and a urate transporter (URAT1) in the pathophysiology of human disease. Clin Exp Nephrol. 2005;9:195-205 pubmed
    ..In this review, we introduce and discuss some novel aspects of OATs, with special emphasis on URAT1, in the context of their biological significance, functional regulation, and roles in human disease...
  41. Karet F. Monogenic tubular salt and acid transporter disorders. J Nephrol. 2002;15 Suppl 6:S57-68 pubmed
    ..The hope is that these findings may in the future prove relevant to the understanding and treatment of more common disorders...
  42. Solanki K, Qureshi F, Sebastian C. An uninvestigated case of hypokalaemia with profound weakness and tiredness in New Zealand: Gitelman's Syndrome. N Z Med J. 2003;116:U481 pubmed
  43. Bettinelli A, Tedeschi S. Hypokalemia and hypomagnesemia of hereditary renal tubular origin. Bartter and Gitelman syndromes. Acta Biomed. 2003;74:163-7 pubmed
  44. Lee Y, Wang I, Lin T, Huang C. Gitelman syndrome: report of three cases and literature review. Kaohsiung J Med Sci. 2006;22:357-62 pubmed
    ..They received regular pediatric clinic follow-up to check electrolytes and monitor development. These three cases reminded us that doctors should be alert to unexplained hypokalemia, which is usually the initial presentation of GS...
  45. Groenestege W, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, et al. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest. 2007;117:2260-7 pubmed
    ..Furthermore, we show that colorectal cancer patients treated with cetuximab, an antagonist of the EGFR, develop hypomagnesemia, emphasizing the significance of EGF in maintaining Mg(2+) balance...
  46. Cho H, Lee B, Choi H, Ha I, Choi Y, Cheong H. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol. 2008;23:243-9 pubmed
    ..In patients with Dent disease, the presence of the above-mentioned extrarenal manifestations indicates that it is more likely that the patient is affected by Dent disease 2 than by Dent disease 1...
  47. Naraba H, Kokubo Y, Tomoike H, Iwai N. Functional confirmation of Gitelman's syndrome mutations in Japanese. Hypertens Res. 2005;28:805-9 pubmed
    ..This observation may have very important clinical implications, since the allele frequency of this variation is 0.0126...
  48. Al Haggar M, Bakr A, Tajima T, Fujieda K, Hammad A, Soliman O, et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. Clin Exp Nephrol. 2009;13:288-294 pubmed publisher
    ..Mutations of the claudin16 gene (CLDN16), formerly called paracellin-1 gene (PCLN-1), have been linked to FHHNC...
  49. Cheng N, Kao M, Hsu Y, Lin S. Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis. Nephrol Dial Transplant. 2003;18:1005-8 pubmed
  50. Reilly D, Lewis R, Ledbetter D, Nussbaum R. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet. 1988;42:748-55 pubmed
    ..Results, when compared with carrier determination by ophthalmologic examination, indicated that the slit-lamp exam can be a sensitive and specific method of carrier determination in many cases...
  51. Ariceta G, Rodriguez Soriano J. Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure. Semin Nephrol. 2006;26:422-33 pubmed
  52. Dell K, Guay Woodford L. Inherited tubular transport disorders. Semin Nephrol. 1999;19:364-73 pubmed
  53. Laine J, Jalanko H, Alakulppi N, Holmberg C. A new tubular disorder with hypokalaemic metabolic alkalosis, severe hypermagnesuric hypomagnesaemia, hypercalciuria and cardiomyopathy. Nephrol Dial Transplant. 2005;20:1241-5 pubmed