Article
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Pediatric nephrology (Berlin, Germany) - 1 Jun 2020
Fila Marc, Morinière Vincent, Eckart Philippe, Terzic Joelle, Gubler Marie-Claire, Antignac Corinne, Heidet Laurence
Abstract excerpt
BACKGROUND: Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system (AGT, ACE, REN, AGTR1) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized by the absence of differentiated proximal tubules leading to fetal anuria and neonatal end-stage renal disease. CASE-DIAGNOSIS/TREATMENT: We identified bi-allelic loss of function...
Topics
- Adolescent
- Child, Preschool
- Female
- Humans
- Infant, Newborn
- Kidney Tubules, Proximal
- Male
- Mutation
- Renal Insufficiency, Chronic
- Renin-Angiotensin System
- Urogenital Abnormalities