Survival over 2 years of autosomal-recessive renal tubular dysgenesis

Abstract

Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare disorder caused by a genetic defect in the renin–angiotensin system. Although AR-RTD has typically been known as a lethal disease due to refractory hypotension and renal failure immediately after birth, few cases have reported survival of the neonatal period. We report here an additional case of AR-RTD, who had novel ACE mutations and survived over 2 years and provide a review of the five previously reported surviving cases. In conclusion, AR-RTD is not a uniformly fatal disease, although factors affecting the survival remain unknown.