Min-Hua Tseng, Shih-Ming Huang, Jing-Long Huang, Wen-Lang Fan, Martin Konrad, Steven W Shaw, Reyin Lien, Hui-Ping Chien, Jhao-Jhuang Ding, Tai-Wei Wu, Jeng-Daw Tsai, Ya-Chung Tian, Hwei-Jen Lee, Po-Jen Cheng, Jen-Fu Hsu, Shih-Hua Lin
Introduction: Autosomal recessive renal tubular dysgenesis (ARRTD) caused by inactivation mutations in AGT , REN , ACE , and AGTR is a very rare but fatal disorder with an unknown prevalence. Methods: We report 6 Taiwanese individuals with ARRTD from 6 unrelated families diagnosed by renal histology. Clinical features, outcome, and prevalence of carrier heterozygosity were examined. Results: All patients exhibited antenatal oligohydramnios, postnatal anuria, pulmonary hypoplasia, and profound hypotension refractory to interventions...
November 2020: KI Reports