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

Aigbogun, Osaretin Pamela; Vancoppenolle, Noémie; Coppens, Sandra; Marangoni, Martina; Elsen, Elodie; Cassart, Marie; Gounongbe, Caroline

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

Aigbogun, Osaretin Pamela; Vancoppenolle, Noémie; Coppens, Sandra; Marangoni, Martina; Elsen, Elodie; Cassart, Marie; Gounongbe, Caroline.

Afiliación

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.
Gounongbe C; Department of Radiology and Fetal Medicine Iris Sud Hospitals Brussels Belgium.

Clin Case Rep ; 12(7): e8730, 2024 Jul.

Article en En | MEDLINE | ID: mdl-39015212

ABSTRACT

ABSTRACT

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.

Palabras clave

cystinuria; genetic counseling; nephropathies; prenatal diagnosis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2024 Tipo del documento: Article