Genetic basis of ADTKD

What is the genetic basis of ADTKD?

Four forms of ADTKD have been identified, based on specific abnormalities in genes expressed in the tubular cells of the distal nephron.

ADTKD-UMOD, the most common disorder, is associated with a mutation in the UMOD gene, which expresses uromodulin (Tamm-Horsfall protein). A cardinal feature of ADTKD-UMOD is hyperuricemia and early-onset gout. ADTKD-MUC1 is related to a mutation in the mucin-1 gene (MUC1) , which codes for a transmembrane protein expressed in the distal nephron. ADTKD-REN, a rare disorder associated with a mutation in the gene for preprorenin (REN) , is characterized by reduced renin production and mild hypotension. ADTKD-HNF1B is a disorder that involves a mutation in hepatocyte nuclear factor 1B (HNF-1B) , a transcription factor that regulates multiple genes expressed in the kidney, pancreas, and liver. This disorder is associated with maturity-onset diabetes of the young (MODY-5), uterine malformations, gout, hypomagnesemia, liver abnormalities, and other systemic findings. There is a 30% to 50% de novo mutation rate in ADTKD-HNF1B.

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