ADTKD is an autosomal dominant disorder which is characterized by tubulointerstitial damage, atrophy, fibrosis and a declinig glomerular fitration rate. No specific therapy is known so far.
6 types of ADTKD can be distinguished by know. The nomecalture is composed by ADTKD and the gene symbol, such as ADTKD-HNF1B, -MUC1, -UMOD, -REN, -SEC61A1, and -NOS.
1. |
Zivná M et al. (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. ![]() |
2. |
Piret SE et al. (2011) Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. ![]() |
3. |
Bernascone I et al. (2010) A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. ![]() |
4. |
Zaucke F et al. (2010) Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. ![]() |
5. |
Dahan K et al. (2003) A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. ![]() |
6. |
DUNCAN H et al. (1960) Gout, familial hypericaemia, and renal disease. ![]() |
7. |
Stacey JM et al. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. ![]() |
8. |
Fairbanks LD et al. (2002) Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. ![]() |
9. |
Kamatani N et al. (2000) Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family. ![]() |
10. |
McBride MB et al. (1997) Familial renal disease or familial juvenile hyperuricaemic nephropathy? ![]() |
11. |
Saeki A et al. (1995) Newly discovered familial juvenile gouty nephropathy in a Japanese family. ![]() |
12. |
Simmonds HA et al. (1980) Familial gout and renal failure in young women. ![]() |
13. |
Massari PU et al. (1980) Familial hyperuricemia and renal disease. ![]() |
14. |
Leumann EP et al. (1983) Familial nephropathy with hyperuricemia and gout. ![]() |
15. |
Van Goor W et al. (1971) An unusual form of renal disease associated with gout and hypertension. ![]() |
16. |
Cameron JS et al. (1990) Precocious familial gout. ![]() |
17. |
Hodanová K et al. (2005) Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. ![]() |
18. |
Vylet'al P et al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. ![]() |
19. |
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. ![]() |
20. |
Turner JJ et al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. ![]() |
21. |
Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. ![]() |
22. |
Stibůrková B et al. (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. ![]() |
23. |
McBride MB et al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. ![]() |
25. |
OMIM.ORG article Omim 174000![]() |