autosomal dominant polycystic kidney

Summary

Summary: Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.

Top Publications

  1. Garcia Gonzalez M, Jones J, Allen S, Palatucci C, Batish S, Seltzer W, et al. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab. 2007;92:160-7 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is estimated to affect 1/600-1/1000 individuals worldwide. The disease is characterized by age dependent renal cyst formation that results in kidney failure during adulthood...
  2. Torres V, Harris P, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369:1287-1301 pubmed publisher
    b>Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder...
  3. Steinman T. Renal and cardiac effects of antihypertensive treatment with ramipril versus metoprolol in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2008;23:431-3 pubmed
  4. Gallagher A, Germino G, Somlo S. Molecular advances in autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17:118-30 pubmed publisher
  5. Braun W. Autosomal dominant polycystic kidney disease: emerging concepts of pathogenesis and new treatments. Cleve Clin J Med. 2009;76:97-104 pubmed publisher
    Some of the mystery of autosomal dominant polycystic kidney disease (ADPKD) is starting to clear. Basic research is shedding light on its pathogenesis, and new treatments are in clinical trials...
  6. Park J, Schutzer W, Lindsley J, Bagby S, Oyama T, Anderson S, et al. p21 is decreased in polycystic kidney disease and leads to increased epithelial cell cycle progression: roscovitine augments p21 levels. BMC Nephrol. 2007;8:12 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease with few treatment options other than renal replacement therapy...
  7. Li L, Li L, Zhong C, Gao B, Lu G. [Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007;24:666-9 pubmed
    To detect gene mutation in the patients with autosomal dominant polycystic kidney disease (PKD)...
  8. Pei Y. Diagnostic approach in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2006;1:1108-14 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is the most common Mendelian disorder of the kidney and affects all racial groups worldwide...
  9. Qin S, Taglienti M, Nauli S, Contrino L, Takakura A, Zhou J, et al. Failure to ubiquitinate c-Met leads to hyperactivation of mTOR signaling in a mouse model of autosomal dominant polycystic kidney disease. J Clin Invest. 2010;120:3617-28 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder that is caused by mutations at two loci, polycystin 1 (PKD1) and polycystin 2 (PKD2)...

More Information

Publications91

  1. Takei R, Ubara Y, Hoshino J, Higa Y, Suwabe T, Sogawa Y, et al. Percutaneous transcatheter hepatic artery embolization for liver cysts in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2007;49:744-52 pubmed
    We have achieved renal contraction therapy in patients with autosomal dominant polycystic kidney disease (ADPKD) by means of renal transcatheter arterial embolization (TAE) using intravascular coils, decreasing renal size and improving ..
  2. Smith L, Bukanov N, Husson H, Russo R, Barry T, Taylor A, et al. Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease. J Am Soc Nephrol. 2006;17:2821-31 pubmed
    ..Collectively, these data demonstrate that the jck mice should be useful for testing potential therapies and for studying the molecular mechanisms that link ciliary structure/function and cystogenesis. ..
  3. Rossetti S, Consugar M, Chapman A, Torres V, Guay Woodford L, Grantham J, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18:2143-60 pubmed
    Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, duplication of PKD1, and a high level of unclassified variants (UCV)...
  4. Grantham J, Cook L, Torres V, Bost J, Chapman A, Harris P, et al. Determinants of renal volume in autosomal-dominant polycystic kidney disease. Kidney Int. 2008;73:108-16 pubmed
    ..The good fit between the exponential models and the extrapolated CRISP data indicates that the TCV growth rate is a defining trait for individual patients and may be used as a prognostic marker. ..
  5. Le N, van der Wal A, van der Bent P, Lantinga van Leeuwen I, Breuning M, van Dam H, et al. Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2005;16:2724-31 pubmed
    b>Autosomal dominant polycystic kidney disease is a common inherited disorder that predominantly manifests with the formation of fluid-filled cysts in both kidneys...
  6. Brown J, Bihoreau M, Hoffmann S, Kränzlin B, Tychinskaya I, Obermüller N, et al. Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. J Am Soc Nephrol. 2005;16:3517-26 pubmed
    b>Autosomal dominant polycystic kidney disease (PKD) is the most common genetic disease that leads to kidney failure in humans...
  7. Tsiokas L, Kim S, Ong E. Cell biology of polycystin-2. Cell Signal. 2007;19:444-53 pubmed
    ..in two separate, but interacting loci, pkd1 and pkd2 are responsible for almost all cases of autosomal dominant polycystic kidney disease (ADPKD)...
  8. Nauli S, Rossetti S, Kolb R, Alenghat F, Consugar M, Harris P, et al. Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction. J Am Soc Nephrol. 2006;17:1015-25 pubmed
    ..to cystogenesis and has been proposed to explain the focal nature for renal cyst formation in autosomal dominant polycystic kidney disease (ADPKD)...
  9. Grantham J. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359:1477-85 pubmed publisher
  10. Thivierge C, Kurbegovic A, Couillard M, Guillaume R, Côté O, Trudel M. Overexpression of PKD1 causes polycystic kidney disease. Mol Cell Biol. 2006;26:1538-48 pubmed
    The pathogenetic mechanisms underlying autosomal dominant polycystic kidney disease (ADPKD) remain to be elucidated...
  11. Stroope A, Radtke B, Huang B, Masyuk T, Torres V, Ritman E, et al. Hepato-renal pathology in pkd2ws25/- mice, an animal model of autosomal dominant polycystic kidney disease. Am J Pathol. 2010;176:1282-91 pubmed publisher
    ..Here we demonstrate that Pkd2ws25/- mice, an animal model of autosomal dominant polycystic kidney disease, developed hepatic cysts...
  12. Romão E, Moyses Neto M, Teixeira S, Muglia V, Vieira Neto O, Dantas M. Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease. Braz J Med Biol Res. 2006;39:533-8 pubmed
    ..present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population...
  13. Ibraghimov Beskrovnaya O, Bukanov N. In vitro cystogenesis: the search for drugs antagonizing cyst development. Nephrol Ther. 2006;2 Suppl 2:S109-14 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) cystogenesis has been extensively studied and major characteristic abnormalities were identified including increased proliferation, apoptosis, changes in cellular polarity, abnormal ..
  14. Distefano G, Boca M, Rowe I, Wodarczyk C, Ma L, Piontek K, et al. Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1. Mol Cell Biol. 2009;29:2359-71 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease characterized by bilateral renal cyst formation. Both hyperproliferation and hypertrophy have been previously observed in ADPKD kidneys...
  15. deSouza R, Prachalias A, Srinivasan P, O Doherty M, Olsburgh J. Differentiation between infection in kidney and liver cysts in autosomal dominant polycystic kidney disease: use of PET-CT in diagnosis and to guide management. Transplant Proc. 2009;41:1942-5 pubmed publisher
    ..We report a case of autosomal dominant polycystic kidney disease in which PET-CT was used to differentiate between infection in the kidney and liver cysts...
  16. Driscoll J, Bhalla S, Liapis H, Ibricevic A, Brody S. Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. Chest. 2008;133:1181-8 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is a common disease with several known extrarenal manifestations, although no known pulmonary features...
  17. Nishi H, Shibagaki Y, Hatakeyama S, Ito T, Nagata T, Ohno M, et al. Metastatic intracranial subdural empyema from renal cyst infection in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2005;20:2820-3 pubmed
  18. Harris P, Bae K, Rossetti S, Torres V, Grantham J, Chapman A, et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2006;17:3013-9 pubmed
    ..renal magnetic resonance imaging of the Consortium of Radiologic Imaging Study of PKD (CRISP) autosomal dominant polycystic kidney disease (PKD) population showed that cystic expansion occurs at a consistent rate per individual, ..
  19. Chang M, Parker E, Ibrahim S, Shortland J, Nahas M, Haylor J, et al. Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models. Nephrol Dial Transplant. 2006;21:2078-84 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited human kidney disease and is caused by germline mutations in PKD1 (85%) or PKD2 (15%)...
  20. Pei Y, Obaji J, Dupuis A, Paterson A, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009;20:205-12 pubmed publisher
    Individuals who are at risk for autosomal dominant polycystic kidney disease are often screened by ultrasound using diagnostic criteria derived from individuals with mutations in PKD1...
  21. Garcia Gonzalez M, Menezes L, Piontek K, Kaimori J, Huso D, Watnick T, et al. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet. 2007;16:1940-50 pubmed
    ..These studies are the first to show genetic interaction between the major loci responsible for human renal cystic disease in a common PKD pathway...
  22. Yamaguchi T, Hempson S, Reif G, Hedge A, Wallace D. Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells. J Am Soc Nephrol. 2006;17:178-87 pubmed
    ..Thus, increases in [Ca2+]i are able to restore the normal anti-mitogenic response to cAMP in cells that are derived from two genetically distinct forms of PKD...
  23. Chapman A, Stepniakowski K, Rahbari Oskoui F. Hypertension in autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17:153-63 pubmed publisher
    Hypertension is common and occurs in a majority of autosomal dominant polycystic kidney disease (ADPKD) patients before the loss of kidney function...
  24. Han C, Chien C, Chen W, Chen Y, Wu C, Li H, et al. A multiplexed quantitative strategy for membrane proteomics: opportunities for mining therapeutic targets for autosomal dominant polycystic kidney disease. Mol Cell Proteomics. 2008;7:1983-97 pubmed publisher
    ..this approach to the first proteomics delineation of phenotypic expression in a mouse model of autosomal dominant polycystic kidney disease (ADPKD)...
  25. Wahl P, Serra A, Le Hir M, Molle K, Hall M, Wuthrich R. Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD). Nephrol Dial Transplant. 2006;21:598-604 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is characterized by dysregulated tubular epithelial cell growth, resulting in the formation of multiple renal cysts and progressive renal failure...
  26. Rizk D, Jurkovitz C, Veledar E, Bagby S, Baumgarten D, Rahbari Oskoui F, et al. Quality of life in autosomal dominant polycystic kidney disease patients not yet on dialysis. Clin J Am Soc Nephrol. 2009;4:560-6 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is an inherited progressive disorder associated with significant pain and discomfort affecting quality of life...
  27. Dai B, Mei C. Research on autosomal dominant polycystic kidney disease in China. Chin Med J (Engl). 2006;119:1915-24 pubmed
    To review the history and recent development of research on autosomal dominant polycystic kidney disease (ADPKD) in China.
  28. Bonnet C, Aldred M, Von Ruhland C, Harris R, Sandford R, Cheadle J. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Hum Mol Genet. 2009;18:2166-76 pubmed publisher
    ..Patients with TSC often develop renal cysts and those with inherited co-deletions of the autosomal dominant polycystic kidney disease (ADPKD) 1 gene (PKD1) develop severe, early onset, polycystic kidneys...
  29. Prasad S, McDaid J, Tam F, Haylor J, Ong A. Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury. Am J Pathol. 2009;175:1493-503 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) results from mutations in either PKD1 or PKD2 and accounts for 10% of all patients on renal replacement therapy...
  30. Lucas S, Mofunanya T, Goggins W, Sundaram C. Staged nephrectomy versus bilateral laparoscopic nephrectomy in patients with autosomal dominant polycystic kidney disease. J Urol. 2010;184:2054-9 pubmed publisher
    In patients with autosomal dominant polycystic kidney disease we compared the outcome of bilateral laparoscopic nephrectomy at a single operation vs staged nephrectomy, including 1 during transplantation and the other via laparoscopic ..
  31. Kistler A, Poster D, Krauer F, Weishaupt D, Raina S, Senn O, et al. Increases in kidney volume in autosomal dominant polycystic kidney disease can be detected within 6 months. Kidney Int. 2009;75:235-41 pubmed publisher
    ..volume growth is considered the best surrogate marker predicting the decline of renal function in autosomal dominant polycystic kidney disease...
  32. Perrone R, Miskulin D. Hypertension in individuals at risk for autosomal dominant polycystic kidney disease: to screen or not to screen?. Am J Kidney Dis. 2005;46:557-9 pubmed
  33. Chea S, Lee K. TGF-beta mediated epithelial-mesenchymal transition in autosomal dominant polycystic kidney disease. Yonsei Med J. 2009;50:105-11 pubmed publisher
    ..However, there are no data of EMT in humane autosomal dominant polycystic kidney disease (ADPKD).
  34. Lal M, Song X, Pluznick J, Di Giovanni V, Merrick D, Rosenblum N, et al. Polycystin-1 C-terminal tail associates with beta-catenin and inhibits canonical Wnt signaling. Hum Mol Genet. 2008;17:3105-17 pubmed publisher
    Polycystin-1 (PC1), the product of the PKD1 gene mutated in the majority of autosomal dominant polycystic kidney disease (ADPKD) cases, undergoes a cleavage resulting in the intracellular release of its C-terminal tail (CTT)...
  35. Erkoc R, Sayarlioglu H, Ceylan K, Dogan E, Kara P. Gas-forming infection in a renal cyst of a patient with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2006;21:555-6 pubmed
  36. Akinci D, Turkbey B, Yilmaz R, Akpinar E, Ozmen M, Akhan O. Percutaneous treatment of pyocystis in patients with autosomal dominant polycystic kidney disease. Cardiovasc Intervent Radiol. 2008;31:926-30 pubmed publisher
    The course of autosomal dominant polycystic kidney disease (ADPKD) is frequently complicated by infection of a cyst within a polycystic kidney, which is a diagnostic and therapeutic dilemma damaging the clinical course of patients...
  37. Mei C, Mao Z, Shen X, Wang W, Dai B, Tang B, et al. Role of keratinocyte growth factor in the pathogenesis of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2005;20:2368-75 pubmed
    ..However, there are no data on KGF expression in human autosomal dominant polycystic kidney disease (ADPKD) tissue, and it is unknown whether it affects ADPKD cyst-lining epithelial cell ..
  38. Namli S, Oflaz H, Turgut F, Alisir S, Tufan F, Ucar A, et al. Improvement of endothelial dysfunction with simvastatin in patients with autosomal dominant polycystic kidney disease. Ren Fail. 2007;29:55-9 pubmed
    Cardiovascular problems are a major cause of morbidity and mortality in patients with autosomal dominant polycystic kidney disease (ADPKD)...
  39. Magenheimer B, St John P, Isom K, Abrahamson D, De Lisle R, Wallace D, et al. Early embryonic renal tubules of wild-type and polycystic kidney disease kidneys respond to cAMP stimulation with cystic fibrosis transmembrane conductance regulator/Na(+),K(+),2Cl(-) Co-transporter-dependent cystic dilation. J Am Soc Nephrol. 2006;17:3424-37 pubmed
  40. Xu C, Rossetti S, Jiang L, Harris P, Brown Glaberman U, Wandinger Ness A, et al. Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling. Am J Physiol Renal Physiol. 2007;292:F930-45 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) gene products polycystin-1 (PC1) and polycystin-2 (PC2) colocalize in the apical monocilia of renal epithelial cells...
  41. Park J, Park S, Weiss R. Disparate effects of roscovitine on renal tubular epithelial cell apoptosis and senescence: implications for autosomal dominant polycystic kidney disease. Am J Nephrol. 2009;29:509-15 pubmed publisher
    Control of apoptosis in autosomal dominant polycystic kidney disease (ADPKD) and in at least some cancers is likely regulated by the endogenous cyclin kinase inhibitor p21, levels of this protein being decreased in ADPKD and increased in ..
  42. Torres V. Vasopressin antagonists in polycystic kidney disease. Kidney Int. 2005;68:2405-18 pubmed
  43. Kumar S, Fan S, Raftery M, Yaqoob M. Long term outcome of patients with autosomal dominant polycystic kidney diseases receiving peritoneal dialysis. Kidney Int. 2008;74:946-51 pubmed publisher
    ..Our study found no difference in long term outcome of peritoneal dialysis therapy in patients with polycystic kidney disease compared to a non-diabetic matched control group...
  44. Stekrova J, Reiterova J, Svobodova S, Kebrdlova V, Lnenicka P, Merta M, et al. New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease. BMC Med Genet. 2009;10:78 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease...
  45. Chapman A. Approaches to testing new treatments in autosomal dominant polycystic kidney disease: insights from the CRISP and HALT-PKD studies. Clin J Am Soc Nephrol. 2008;3:1197-204 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is an inherited systemic disease characterized by a prolonged subclinical course of gradual renal cyst expansion, resulting in massively enlarged kidneys and renal failure by the fifth ..
  46. O Neill W, Robbin M, Bae K, Grantham J, Chapman A, Guay Woodford L, et al. Sonographic assessment of the severity and progression of autosomal dominant polycystic kidney disease: the Consortium of Renal Imaging Studies in Polycystic Kidney Disease (CRISP). Am J Kidney Dis. 2005;46:1058-64 pubmed
    The accuracy and precision of ultrasonography (US) in assessing the severity of autosomal dominant polycystic kidney disease (ADPKD) is unknown.
  47. Elliott R, Harter D. Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. J Neurosurg Pediatr. 2008;2:435-7 pubmed publisher
    ..Although the occurrence of RES is presumed to be sporadic, no clear pattern of inheritance has been identified. The authors report on a 17-year-old girl with autosomal dominant polycystic kidney disease Type 1 as well as RES.
  48. Cadnapaphornchai M, McFann K, Strain J, Masoumi A, Schrier R. Increased left ventricular mass in children with autosomal dominant polycystic kidney disease and borderline hypertension. Kidney Int. 2008;74:1192-6 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary condition that may be diagnosed in utero...
  49. Wuthrich R, Serra A, Kistler A. Autosomal dominant polycystic kidney disease: new treatment options and how to test their efficacy. Kidney Blood Press Res. 2009;32:380-7 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) represents a slowly progressing cystic kidney disorder which evolves into end-stage renal disease in the majority of patients...
  50. Ubara Y. New therapeutic option for autosomal dominant polycystic kidney disease patients with enlarged kidney and liver. Ther Apher Dial. 2006;10:333-41 pubmed
    The kidneys of patients with autosomal dominant polycystic kidney disease (ADPKD) usually continue to increase in size even after patients begin dialysis, and mass effects can lead to severe complications...
  51. Li X, Magenheimer B, Xia S, Johnson T, Wallace D, Calvet J, et al. A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease. Nat Med. 2008;14:863-8 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is caused by heterozygous mutations in either PKD1 or PKD2, genes that encode polycystin-1 and polycystin-2, respectively...
  52. Ecder T, Schrier R. Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease. Nat Rev Nephrol. 2009;5:221-8 pubmed publisher
    ..Early diagnosis and treatment of hypertension, with drugs that block the renin-angiotensin-aldosterone system, has the potential to decrease the cardiovascular complications and slow the progression of renal disease in ADPKD...
  53. Russo R, Husson H, Joly D, Bukanov N, Patey N, Knebelmann B, et al. Impaired formation of desmosomal junctions in ADPKD epithelia. Histochem Cell Biol. 2005;124:487-97 pubmed
    Mutations in polycystin-1 (PC-1) are responsible for autosomal dominant polycystic kidney disease (ADPKD), characterized by formation of fluid-filled tubular cysts...
  54. Hartman T, Liu D, Zilfou J, Robb V, Morrison T, Watnick T, et al. The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum Mol Genet. 2009;18:151-63 pubmed publisher
    ..Many renal cystic diseases, including autosomal dominant polycystic kidney disease (ADPKD), are associated with absence or dysfunction of the primary cilium...
  55. Mohteshamzadeh M, Coutinho A, Erekosima I, Rustom R, Wong C. Successful pregnancy in a patient with Landesman's Group C autosomal dominant polycystic kidney disease. Nat Clin Pract Nephrol. 2008;4:227-31 pubmed publisher
    A female with autosomal dominant polycystic kidney disease was followed up over the course of four pregnancies. Her first three pregnancies were unsuccessful. Her fourth pregnancy resulted in a live birth, but at what expense?
  56. Sulikowski T, Tejchman K, Zietek Z, Rozanski J, Domanski L, Kaminski M, et al. Experience with autosomal dominant polycystic kidney disease in patients before and after renal transplantation: a 7-year observation. Transplant Proc. 2009;41:177-80 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the presence of multiple cysts in both kidneys. Symptoms of the disease may arise either from the presence of cysts or from increasing loss of kidney function...
  57. Chang M, Chen Y, Chen Y, Tian Y, Fang J, Yang C. Concurrent renal cell carcinoma and central nervous system lymphoma in a patient with autosomal dominant polycystic kidney disease. Med Princ Pract. 2009;18:486-9 pubmed publisher
    To report an unusual case of synchronous renal cell carcinoma and CNS lymphoma in a patient with autosomal dominant polycystic kidney disease (ADPKD).
  58. Belibi F, Edelstein C. Novel targets for the treatment of autosomal dominant polycystic kidney disease. Expert Opin Investig Drugs. 2010;19:315-28 pubmed publisher
    ..There is currently no therapy that slows or prevents cyst formation and kidney enlargement in humans. An increasing number of animal studies have advanced our understanding of molecular and cellular targets of PKD...
  59. Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17:173-80 pubmed publisher
  60. Yoder B, Mulroy S, Eustace H, Boucher C, Sandford R. Molecular pathogenesis of autosomal dominant polycystic kidney disease. Expert Rev Mol Med. 2006;8:1-22 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest inherited human disorders yet remains relatively unknown to the wider medical, scientific and public audience...
  61. Wei W, Hackmann K, Xu H, Germino G, Qian F. Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. J Biol Chem. 2007;282:21729-37 pubmed
    ..role in renal tubule diameter control and disruption of its function causes cyst formation in human autosomal dominant polycystic kidney disease...
  62. Huang E, Samaniego Picota M, McCune T, Melancon J, Montgomery R, Ugarte R, et al. DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease. Transplantation. 2009;87:133-7 pubmed publisher
    b>Autosomal dominant polycystic kidney disease (ADPKD) is characterized by age-dependent growth of kidney cysts with end-stage renal disease developing in approximately 50% of affected individuals...
  63. Stringer K, Komers R, Osman S, Oyama T, Lindsley J, Anderson S. Gender hormones and the progression of experimental polycystic kidney disease. Kidney Int. 2005;68:1729-39 pubmed
  64. Torra R, Sarquella J, Calabia J, Martí J, Ars E, Fernandez Llama P, et al. Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2008;3:790-3 pubmed publisher
    b>Autosomal dominant polycystic kidney disease is a systemic disorder with a wide range of extrarenal involvement...
  65. Chang Y, Chung H, Chen K. Bilateral renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease. J Chin Med Assoc. 2007;70:403-5 pubmed
    Renal cell carcinoma (RCC) in autosomal dominant polycystic kidney disease (ADPKD) is very rare. Only 11 cases of bilateral RCC in ADPKD have been reported since 1954...
  66. Gout A, Martin N, Brown A, Ravine D. PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease. Hum Mutat. 2007;28:654-9 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) arises from mutations in the PKD1 and PKD2 genes...
  67. Kistler A, Mischak H, Poster D, Dakna M, Wuthrich R, Serra A. Identification of a unique urinary biomarker profile in patients with autosomal dominant polycystic kidney disease. Kidney Int. 2009;76:89-96 pubmed publisher
    To gain some insight into early disease progression in human autosomal dominant polycystic kidney disease (ADPKD), we analyzed the urine proteome of 41 young patients with ADPKD whose renal function was relatively preserved...
  68. Qian Q, Du H, King B, Kumar S, Dean P, Cosio F, et al. Sirolimus reduces polycystic liver volume in ADPKD patients. J Am Soc Nephrol. 2008;19:631-8 pubmed publisher
    ..of the biliary epithelium is a prominent feature of the polycystic liver that accompanies autosomal dominant polycystic kidney disease (ADPKD), we hypothesized that sirolimus may benefit patients with this disorder...
  69. Reed B, McFann K, Bekheirnia M, Reza Bekheirnia M, Nobakhthaghighi N, Nobkhthaghighi N, et al. Variation in age at ESRD in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008;51:173-83 pubmed publisher
    ..disease in successive generations has been attributed to genetic anticipation in patients with autosomal dominant polycystic kidney disease (ADPKD)...
  70. Walz G. Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel?. Nephrol Dial Transplant. 2006;21:1752-7 pubmed
  71. Polgar K, Burrow C, Hyink D, Fernandez H, Thornton K, Li X, et al. Disruption of polycystin-1 function interferes with branching morphogenesis of the ureteric bud in developing mouse kidneys. Dev Biol. 2005;286:16-30 pubmed
  72. Cigarran S, Neches C, Lamas J, García Trio G, Alonso M, Saavedra J. A case report of a pyogenic liver abscess caused by Fusobacterium nucleatum in a patient with autosomal dominant polycystic kidney disease undergoing hemodialysis. Ther Apher Dial. 2008;12:91-5 pubmed publisher
    ..significant morbidity and mortality and is a rare complication in an aisled way in patients with autosomal dominant polycystic kidney disease (ADPKD)...
  73. Qian Q, Hartman R, King B, Torres V. Increased occurrence of pericardial effusion in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2007;2:1223-7 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary disease with prominent connective tissue manifestations. A frequent occurrence of asymptomatic pericardial effusion has been observed in patients with ADPKD.
  74. Stypmann J, Engelen M, Orwat S, Bilbilis K, Rothenburger M, Eckardt L, et al. Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). Int J Cardiol. 2007;120:158-66 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2. Patients with ADPKD have an increased incidence of cardiac valve abnormalities and left ventricular hypertrophy...
  75. Bichet D, Peters D, Patel A, Delmas P, Honore E. Cardiovascular polycystins: insights from autosomal dominant polycystic kidney disease and transgenic animal models. Trends Cardiovasc Med. 2006;16:292-8 pubmed
    Mutations in the PKD1 and PKD2 polycystin genes are responsible for autosomal dominant polycystic kidney disease (ADPKD), one of the most prevalent genetic kidney disorders...
  76. Hoevenaren I, Wester R, Schrier R, McFann K, Doctor R, Drenth J, et al. Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease. Liver Int. 2008;28:264-70 pubmed
    The goal of this study was to compare the clinical features of patients with isolated polycystic liver disease (PCLD) with those of patients with polycystic liver and autosomal dominant polycystic kidney disease (ADPKD).
  77. Torres V. Treatment of polycystic liver disease: one size does not fit all. Am J Kidney Dis. 2007;49:725-8 pubmed
  78. Serra A, Kistler A, Poster D, Krauer F, Senn O, Raina S, et al. Safety and tolerability of sirolimus treatment in patients with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2009;24:3334-42 pubmed publisher
    ..clinical trial to assess the effect of sirolimus on disease progression in patients affected by autosomal dominant polycystic kidney disease (ADPKD). Here we report the preliminary safety results of the first 6 months of treatment.
  79. Al Kandari A, Shoma A, Eraky I, El Kenawy M, Al Eezi H, El Kappany H. Percutaneous nephrolithotomy for management of upper urinary tract calculi in patients with autosomal dominant polycystic kidney disease. Urology. 2009;74:273-7 pubmed publisher
    To evaluate the role of percutaneous nephrolithotomy in management of the patients with autosomal dominant polycystic kidney disease and associated nephrolithiasis.
  80. Torres V, Harris P. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009;76:149-68 pubmed publisher
    b>Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal monogenic disorder. It has large inter- and intra-familial variability explained to a large extent by its genetic heterogeneity and modifier genes...
  81. Felekkis K, Koupepidou P, Kastanos E, Witzgall R, Bai C, Li L, et al. Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2. BMC Nephrol. 2008;9:10 pubmed publisher
    b>Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the formation of multiple fluid-filled cysts that destroy the kidney architecture resulting in end-stage renal failure...
  82. Meijer E, de Jong P, Peters D, Gansevoort R. Better understanding of ADPKD results in potential new treatment options: ready for the cure?. J Nephrol. 2008;21:133-8 pubmed
    b>Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. It accounts for 6% of the incidence of end-stage renal disease in Europe...