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Updated: Jun 18, 2025

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在三胞胎中鉴定CUBN变异,三胞胎有20年的蛋白尿病史

Natsumi Yamamura-Miyazaki1, Nana Sakakibara2, Kandai Nozu2

  • 1Department of Pediatric Nephrology and Metabolism, Osaka Women's and Children's Hospital, 840 Murodo-Cho, Izumi, Osaka, 594-1101, Japan. yamamur@wch.opho.jp.

CEN case reports
|August 5, 2024
PubMed
概括

库比林 (CUBN) 基因中的遗传变异导致慢性良性蛋白尿症,这是20年来三胞胎中以前未被诊断的疾病. 与CUBN相关的蛋白尿的分子诊断有助于避免不必要的治疗和脏预后问题.

关键词:
这就是CUBN.通常的功能正常.蛋白质尿症是一种蛋白质尿症.

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