对下尿道功能障碍的遗传贡献
Lilian R Hiltebeitel1, Steve Seltzsam1, Chunyan Wang1
1Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States.
American journal of medical genetics. Part A
|September 4, 2024
概括
基因检测可以揭示儿童下尿道严重功能障碍 (LUTD) 的原因. 这项研究在两名患有非神经性神经性膀 (NNNB) 的儿童中发现了基因突变,这表明了这种疾病的潜在遗传基础.
科学领域:
- 儿科泌尿外科 儿科泌尿外科
- 医学遗传学 医学遗传学
背景情况:
- 下尿路功能障碍 (LUTD) 在儿童中呈现出各种排泄症状.
- 严重的LUTD可以导致严重的并发症,如损伤和慢性病.
- 非神经性神经性膀 (NNNB) 是一种排除严重的LUTD的诊断,没有神经学或阻塞性原因.
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