Work

Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations

Year: 2024

Type: article

Abstract: OBJECTIVE: This study aimed to elucidate the fetal ultrasound characteristics, pathology, and molecular genetic etiology of autosomal recessive tubular dysplasia. METHODS: This retrospective study examined four fetuses with autosomal recessive tubular dysplasia (ARRTD) from two pregnancies, utilizing ultrasound evaluations and fetal renal pathology. Whole-exome sequencing-copy number variation analysis was employed to identify gene mutations. RESULTS: We present for the first time renal vascular resistance in fetuses with ARRTD, characterized by increased renal blood flow resistance and reversed diastolic blood flow, indicating fetal renal insufficiency. This is the first report of a nonsense mutation (C.571C>T) found in the angiotensinogen gene. CONCLUSION: ARRTD disease should be strongly suspected when ultrasound examinations reveal increased renal blood flow resistance, oligohydramnios, and inadequate bladder filling, regardless of the presence of renal abnormalities.

Source: Clinical Dysmorphology

DOI: 10.1097/mcd.0000000000000511

Authors: Yang Liu, Caiqun Luo, Xiaoxia Wu, Liyuan Chen, Xiushu Cao, Hui Wang

Institutions: Medical Genetics Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University

Language: English

Topic: Renal and related cancers

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funder: Sanming Project of Medicine in Shenzhen