Improving the recognition of hereditary interstitial kidney disease

Journal of the American Society of Nephrology

Volumn 20, Issue 1, 2009, Pages 11-13

  Bleyer, Anthony J ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 1Q; DIAGNOSTIC APPROACH ROUTE; DISEASE COURSE; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC LINKAGE; GOUT; HUMAN; HYPERTENSION; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; LINKAGE ANALYSIS; MEDULLARY SPONGE KIDNEY; MOLECULAR GENETICS; NEPHROLOGIST; NOTE; PRIORITY JOURNAL; SALT WASTING; URINE SEDIMENT;

EID: 58249131395     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2007121330     Document Type: Note

References (14)

1. Bleyer AJ, Hart TC: Polycystic kidney disease. N Engl J Med 350: 2622, 2004
2. Kiser RL, Wolf MTF, Martin JL, Zalewski I, Attanasio M, Hildebrandt F, Klemmer P: Medullary cystic kidney disease type 1 in a large Native-American kindred. Am J Kidney Dis 44: 611-617, 2004
3. Hildebrandt F, Otto E: Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 6: 928-940, 2006
4. Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, Cosyns JP, Hildebrandt F, Verellen-Dumoulin C, Pirson Y: Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: Two facets of the same disease? J Am Soc Nephrol 12: 2348-2357, 2001
5. Parvari R, Shnaider A, Basok A, Katchko L, Borochovich Z, Kanis A, Landua D: Clinical and genetic characterization of an autosomal dominant nephropathy. Am J Med Genet 99: 204-209, 2001
6. Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas C: Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families. Kidney Int 62: 1385-1394, 2002
7. Wolf MTF, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto E, Deltas C, Fuchshuber A, Hildebrandt F:Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing. Hum Genet 119: 649-658, 2006
8. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39: 882-892, 2002
9. Hodanova K, Majewski J, Kublova M, Vyletal P, Kalbacova M, Stiburkova B, Hulkova H, Chagnon YC, Lanouette CM, Marinaki A, Fryns J-P, Venkata-Raman G, Kmoch S: Mapping of a new candidate locus for uromodulin associated kidney disease to chromosome 1q41. Kidney Int 68: 1472-1482, 2005
10. Stiburkova B, Majewski J, Hodanova K, Ondrova L, Jerabkova M, Zikanova M, Vylet al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns J-P, Torres R, Puig JG, Ott J, Kmoch S: Familial juvenile hyperuricaemic nephropathy (FJHN): Linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. Eur J Hum Genet 145-154, 2002
11. Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis P, Iounnou P, Pierides A, Constantinou Deltas C: Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD). Hum Mol Med Genet 7: 905-911, 1998
12. Cohn DH, Shohat T, Yahav M, Ilan T, Rechavi G, King L, Shohat M: A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21. Am J Hum Genet 67: 647-651, 2000
13. GeneReviews Sources for Diagnostic Testing: GeneReviews, Medullary Cystic Kidney Disease, 2007. Available at: http://www.genereviews.org/servlet/access? id=8888891&testtype+both&qry+medullary+cystic+kidney+disease& showglossarylinks=yes&db=genetests&fcn=b&res=&key= FmpLGGjemqUmM&testtype=both&type=e&ls=c&grp=b&submit=Search. Accessed February 24, 2008
14. Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM: Uromodulin storage diseases: Clinical aspects and mechanisms. Am J Kidney Dis 44: 987-999, 2004