Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

Kidney International

Volumn 86, Issue 3, 2014, Pages 589-599

  Ekici, Arif B ^a   Hackenbeck, Thomas ^a,b   Morinière, Vincent ^c   Pannes, Andrea ^d   Buettner, Maike ^a   Uebe, Steffen ^a   Janka, Rolf ^a   Wiesener, Antje ^a   Hermann, Ingo ^a,b   Grupp, Sina ^a,b   Hornberger, Martin ^e   Huber, Tobias B ^f,g   Isbel, Nikky ^h   Mangos, George ⁱ   McGinn, Stella ^j   Soreth Rieke, Daniela ^k   Beck, Bodo B ^d   Uder, Michael ^a   Amann, Kerstin ^a   Antignac, Corinne ^c,l   Reis, André ^a   Eckardt, Kai Uwe ^a   Wiesener, Michael S ^a,b   more..

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITY OF COLOGNE   (Germany)

^e Offenburg University   (Germany)

^f UNIVERSITY OF FREIBURG   (Germany)

^g UNIVERSITY OF FREIBURG   (Germany)

^h PRINCESS ALEXANDRA HOSPITAL   (Australia)

ⁱ UNIVERSITY OF NEW SOUTH WALES   (Australia)

^j ROYAL NORTH SHORE HOSPITAL   (Australia)

^k KfH Nierenzentrum Miesbach   (Germany)

^l UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

ADIKD; ADTKD; hereditary; MCKD1; MCKD2; nephronophthisis complex

Indexed keywords

CYTOSINE; HEPATOCYTE NUCLEAR FACTOR 1BETA; MUCIN 1; RENIN; TAMM HORSFALL GLYCOPROTEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE; CHRONIC KIDNEY DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DIRECT SANGER SEQUENCING; END STAGE RENAL DISEASE; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC LINKAGE; GLOMERULUS FILTRATION RATE; HNF1B GENE; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FIBROSIS; MAJOR CLINICAL STUDY; MALE; MEDULLARY SPONGE KIDNEY; MUC1 GENE; NOMENCLATURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REN GENE; UMOD GENE; VARIABLE NUMBER OF TANDEM REPEAT; ATROPHY; CHROMOSOME 1; CHROMOSOME 16; CHROMOSOME ABERRATION; FIBROSIS; GENETICS; HAPLOTYPE; INTERSTITIAL NEPHRITIS; KIDNEY TUBULE; PATHOLOGY; PEDIGREE;

ATROPHY; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; FIBROSIS; HAPLOTYPES; HUMANS; KIDNEY TUBULES; MAGNETIC RESONANCE IMAGING; MALE; MUCIN-1; NEPHRITIS, INTERSTITIAL; PEDIGREE; TERMINOLOGY AS TOPIC; UROMODULIN;

EID: 84907598097     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2014.72     Document Type: Article

References (34)

1. Hallan SI, Matsushita K, Sang Y et al. Age and association of kidney measures with mortality and end-stage renal disease. JAMA 2012; 308: 2349-2360.
2. Bohle A, Mackensen-Haen S, von Gise H. Significance of tubulointerstitial changes in the renal cortex for the excretory function and concentration ability of the kidney: a morphometric contribution. Am J Nephrol 1987; 7: 421-433.
3. Liu Y. Cellular and molecular mechanisms of renal fibrosis. Nat Rev Nephrol 2011; 7: 684-696.
4. Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol 2009; 20: 11-13.
5. Srivastava S, Sayer JA. Hereditary interstitial kidney disease: known genes and opportunities for diagnosis. OA Nephrology 2013; 1: 5.
6. Hildebrandt F, Waldherr R, Kutt R et al. The nephronophthisis complex: clinical and genetic aspects. Clin Investig 1992; 70: 802-808.
7. Kirby A, Gnirke A, Jaffe DB et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 2013; 45: 299-303.
8. Hart TC, Gorry MC, Hart PS et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002; 39: 882-892.
9. Lindner TH, Njolstad PR, Horikawa Y et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 1999; 8: 2001-2008.
10. Bingham C, Ellard S, Allen L et al. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int 2000; 57: 898-907.
11. Zivna M, Hulkova H, Matignon M et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 2009; 85: 204-213.
12. Bleyer AJ, Hart PS, Kmoch S. Hereditary interstitial kidney disease. Semin Nephrol. 2010; 30: 366-373.
13. Christodoulou K, Tsingis M, Stavrou C et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 1998; 7: 905-911.
14. Cohn DH, Shohat T, Yahav M et al. A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21. Am J Hum Genet 2000; 67: 647-651.
15. Auranen M, Ala-Mello S, Turunen JA et al. Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. Kidney Int 2001; 60: 1225-1232.
16. Fuchshuber A, Kroiss S, Karle S et al. Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. Genomics 2001; 72: 278-284.
17. Parvari R, Shnaider A, Basok A et al. Clinical and genetic characterization of an autosomal dominant nephropathy. Am J Med Genet 2001; 99: 204-209.
18. Wolf MT, Mucha BE, Hennies HC et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006; 119: 649-658.
19. Hattrup CL, Gendler SJ. Structure and function of the cell surface (tethered) mucins. Annu Rev Physiol 2008; 70: 431-457.
20. Vylet'al P, Kublova M, Kalbacova M et al. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 2006; 70: 1155-1169.
21. Faguer S, Decramer S, Chassaing N et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011; 80: 768-776.
22. Freedman BI, Volkova NV, Satko SG et al. Population-based screening for family history of end-stage renal disease among incident dialysis patients. Am J Nephrol 2005; 25: 529-535.
23. Connor TM, Oygar DD, Gale DP et al. Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study. PLoS One 2013; 8: e54394.
24. Smith CH, Graham JB. Congenital medullary cysts of the kidneys with severe refractory anemia. Am J Dis Child 1945; 69: 369-377.
25. Stavrou C, Koptides M, Tombazos C et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002; 62: 1385-1394.
26. Ishikawa I. Cancer in dialysis patients. In Eric P Cohen (ed). Cancer and the Kidney. Oxford Medical Publications, Oxford University Press: Oxford, UK, 2005; pp 227-247.
27. Bollee G, Dahan K, Flamant M et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 2011; 6: 2429-2438.
28. Stiburkova B, Majewski J, Hodanova K et al. 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 2003; 11: 145-154.
29. Hodanova K, Majewski J, Kublova M et al. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int 2005; 68: 1472-1482.
30. Wolf MT, Karle SM, Schwarz S et al. Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. Kidney Int 2003; 64: 788-792.
31. Schwarz JM, Rodelsperger C, Schuelke M et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
32. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
33. Kudo E, Kamatani N, Tezuka O et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 2004; 65: 1589-1597.
34. Dahan K, Devuyst O, Smaers M et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 2003; 14: 2883-2893.