Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report.

Autor: Aigbogun OP; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium., Vancoppenolle N; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles Brussels Belgium., Marangoni M; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles Brussels Belgium., Elsen E; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium., Cassart M; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium.; Department of Radiology and Fetal Medicine Iris Sud Hospitals Brussels Belgium., Gounongbe C; Department of Fetal Medicine CHU Saint Pierre Brussels Belgium.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2024 Jul 15; Vol. 12 (7), pp. e8730. Date of Electronic Publication: 2024 Jul 15 (Print Publication: 2024).
DOI: 10.1002/ccr3.8730
Abstrakt: Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9 -related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal sonographic sign.
Competing Interests: None declared.
(© 2024 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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