来自南非的一名患有喉瘤的儿童的案例报告
Rajendra Bhimma1, Edgar Jembere2, Sudesh Hariparshad3
1Department of Paediatrics and Child Health, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa. bhimma@ukzn.ac.za.
BMC pediatrics
|July 4, 2024
概括
炎 (NPHP) 是一种遗传性病. 这项研究证实了南非首例在10岁女孩身上出现NPHP型3病例,强调了基因检测对诊断的重要性.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 遗传学 是一个
- 儿科脏病学 儿科脏病学
背景情况:
- 腎不全 (NPHP) 是一種自體後退性腎病,在年輕人中引起慢性腎衰竭 (CKF).
- 在10-20%的NPHP患者中,出现外表现,包括肝纤维化和骨异常.
- 超过25个基因与NPHP有关,NPHP是发达国家单一性CKF的主要原因.
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