Autosomal Dominant Tubulointerstitial Kidney Disease

Overview

Journal Adv Chronic Kidney Dis

Specialty Nephrology

Date 2017 Mar 13

PMID 28284384

Citations 28

Authors

Anthony J Bleyer

Kendrah Kidd

Martina Zivna

Stanislav Kmoch

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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Development of a Model of Tubulointerstitial Fibrosis Using Transient Unilateral Renal Ischemia and Delayed Contralateral Nephrectomy in Domesticated Cats.

Lourenco B, Dickerson V, Brown C, Rissi D, Heathcote J, Hare J Comp Med. 2024; 74(4):274-283.

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Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease.

Bleyer A, Kidd K, Williams A, Johnson E, Robins V, Martin L Obstet Med. 2023; 16(3):162-169.

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Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.

Schaeffer C, De Fusco M, Pasqualetto E, Scolari C, Izzi C, Scolari F Dis Model Mech. 2023; 16(6).

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