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2017 ; 24
(2
): 86-93
Nephropedia Template TP
Adv Chronic Kidney Dis
2017[Mar]; 24
(2
): 86-93
PMID28284384
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There are 3 major forms of autosomal dominant tubulointerstitial kidney disease
(ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN
gene encoding renin. Lack of knowledge about these conditions contributes to
frequent nondiagnosis, but with even limited knowledge, nephrologists can easily
obtain a diagnosis and improve patient care. There are 3 cardinal features of
these disorders: (1) the conditions are inherited in an autosomal dominant manner
and should be considered whenever both a parent and child suffer from kidney
disease; the presence of even more affected family members provides further
support. (2) These conditions are associated with a bland urinary sediment,
ruling out glomerular disorders. (3) There is a variable rate of decline in
kidney function. The mean age of ESRD is approximately 45, but the range is from
17 to >75. ADTKD-UMOD is often but not always associated with gout in the teenage
years. ADKTKD-REN is associated with signs of hyporeninemia: mild hypotension,
mild hyperkalemia, anemia in childhood, and hyperuricemia and gout in the teenage
years. The only clinical manifestation of ADTKD-MUC1 is slowly progressive CKD.
Diagnosis should be made by genetic testing, and kidney biopsy should be avoided.
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