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. |
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2. |
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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. |
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7. |
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9. |
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10. |
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11. |
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17. |
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18. |
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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. |
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23. |
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25. |
OMIM.ORG article Omim 174000 |