Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir, Sura Hussein, Sasirekha Palaniswamy, Dhullipala Anand, Donald R Love, Adrian Charles, Ammira A S Akil, Khalid A Fakhro
BACKGROUND: Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving variants in the ACE, REN, AGT, and AGTR1 genes, affects various enzymes or receptors within the Renin angiotensin system (RAS). This condition manifests prenatally with oligohydramninos and postnatally with persistent anuria, severe refractory hypotension, and defects in skull ossification...
April 22, 2024: BMC Nephrology