Pediatr Nephrol 2020 06 20;35(6):1125-1128. Epub 2020 Mar 20.
APHP, Néphrologie pédiatrique, Centre de Référence MARHEA, Hôpital Universitaire Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.
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 mutations in ACE, the gene encoding angiotensin-converting enzyme, in 3 unrelated cases displaying progressive chronic renal failure, whose DNAs had been sent for suspicion of juvenile hyperuricemic nephropathy, nephronophthisis, and cystic renal disease, respectively. In all cases, patients were affected with anemia whose severity was unexpected regarding the level of renal failure and with important polyuro-polydipsia. Read More