胎儿孤立性高回声肾相关基因杂合致病变异的胱氨酸尿症产前诊断：一例报告
Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in gene associated with isolated hyperechogenic fetal kidneys: A case report.
作者信息
Aigbogun Osaretin Pamela, Vancoppenolle Noémie, Coppens Sandra, Marangoni Martina, Elsen Elodie, Cassart Marie, Gounongbe Caroline
机构信息
Department of Fetal Medicine CHU Saint Pierre Brussels Belgium.
ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles Brussels Belgium.
出版信息
Clin Case Rep. 2024 Jul 15;12(7):e8730. doi: 10.1002/ccr3.8730. eCollection 2024 Jul.
Abstract
Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant -related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal sonographic sign.
摘要
产前通过胎儿结肠内容物高回声怀疑患有胱氨酸尿症。我们报告了首例与常染色体显性相关的胱氨酸尿症的产前病例，其产前超声检查唯一征象为孤立性高回声肾。
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