title: 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.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Su Yeong
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea ; Research Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Ee Kyung
authors.initials: EK
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Jung Hwan
authors.initials: JH
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea.
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea ; Research Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea ; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
keywords: ACE gene; angiotensin-converting enzyme; autosomal recessive renal tubular dysgenesis; renin–angiotensin system