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

Abstract

Key Clinical Message 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.

Keywords

• cystinuria
• genetic counseling
• nephropathies
• prenatal diagnosis