Table of Contents

HK J Paediatr (New Series)
Vol 29. No. 1, 2024

HK J Paediatr (New Series) 2024;29:39-42

Case Report

A Case of Renal Tubular Dysgenesis with a Novel Mutation of AGT Gene

HW Yuen, PT Yu, SY Chu, YY Lam


Renal tubular dysgenesis is an autosomal recessive disorder caused by pathogenic variants in REN, ACE, AGT or AGTR1 genes which encode components of the renin-angiotensin system. Clinical features included neonatal renal failure, pulmonary hypoplasia and refractory systemic hypotension. We report a premature neonate with typical clinical features of renal tubular dysgenesis resulting in early neonatal death. Molecular testing showed he has novel biallelic pathogenic variants in AGT gene. We performed literature review on this rare disease entity and summarised its clinical features and current management.

Keyword : Arterial hypotension; Neonatal renal failure; Oligohydramnios sequence; Potter sequence; Renaltubular dysgenesis


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