02Aug 2023
The genetics and pathogenesis of CAKUT

The genetics and pathogenesis of CAKUT

Congenital anomalies of the kidney and urinary tract (CAKUT) encompass various kidney and urinary tract malformations that often result in kidney failure. CAKUT accounts for nearly half of chronic kidney disease cases appearing before age 30. Many cases are due to genetic mutations (~12-20%), and some result from pathogenic copy number variants (~4-11%). Environmental and epigenetic factors can also elevate the risk of CAKUT. Uncovering novel genes causing CAKUT is challenging due to varied expressivity and incomplete penetrance. However, identifying such genes could advance accurate molecular diagnosis, prognosis assessment, and personalized therapies for patients with CAKUT.

  • #nephrology

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