原发性肾小球基底膜相关肾病遗传背景与诊治

doi:10.12372/jcp.2022.22e1257

临床儿科杂志 ›› 2022, Vol. 40 ›› Issue (12): 894-898.doi: 10.12372/jcp.2022.22e1257

原发性肾小球基底膜相关肾病遗传背景与诊治

匡新宇

上海市儿童医院上海交通大学医学院附属儿童医院（上海 200062）

收稿日期:2022-09-19 出版日期:2022-12-15 发布日期:2022-12-06
作者简介:匡新宇，博士，ORCID：0000-0002-0528-9136，复旦大学医学博士。上海交通大学医学院附属儿童医院，上海市儿童医院副主任医师。兼任上海市医学会肾脏病分会中西医结合学组青年委员，中国优生科学协会儿科临床与保健分会罕见病与精准医学学组委员，上海交通大学医学院附属儿童医院遗传性肾脏疾病精准诊治研究中心秘书。上海市首届优秀儿科专科医师、上海市静安区青年岗位能手获得者。主要研究方向：儿童先天/遗传性肾脏疾病早期基因诊断和精准干预。承担国家自然科学基金青年基金项目、上海市卫健委青年基金项目等课题5项，入选上海市卫健委优秀青年人才培养计划，国内外发表学术论文多篇。
基金资助:
上海市儿童医院临床研究培育专项基金(2021R011)

Genetic background, diagnosis and treatment of glomerular basement membrane-associated kidney disease

KUANG Xinyu

Shanghai Children’s Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200062, China

Received:2022-09-19 Online:2022-12-15 Published:2022-12-06

摘要/Abstract

摘要：

肾小球基底膜（GBM）是构成肾小球滤过屏障的重要组成成分，各种编码GBM相关蛋白基因变异可能导致GBM结构和功能异常从而引起多种原发性肾小球疾病，如Alport综合征、皮尔森综合征等，临床上对GBM相关疾病认识不足极易导致误诊和漏诊。文章阐述了原发性GBM的遗传背景及其相关疾病的诊疗进展，以提高临床医师对该类疾病的认识。

关键词: 肾小球基底膜, 遗传背景, 肾脏疾病, 儿童

Abstract:

Glomerular basement membrane (GBM) is an important component of the glomerular filtration barrier. Variations in various genes encoding GBM-related proteins may lead to structural and functional abnormalities in GBM, resulting in a variety of primary glomerular diseases, such as Alport syndrome and Pierson syndrome. Insufficient clinical understanding of GBM-related diseases can lead to misdiagnosis and underdiagnosis. In this article, we will elaborate on the genetic background of primary GBM and the progress of treatment of its related diseases to improve clinicians' understanding of these diseases.

Key words: glomerular basement membrane, genetic background, renal disease, child

匡新宇. 原发性肾小球基底膜相关肾病遗传背景与诊治[J]. 临床儿科杂志, 2022, 40(12): 894-898.

KUANG Xinyu. Genetic background, diagnosis and treatment of glomerular basement membrane-associated kidney disease[J]. Journal of Clinical Pediatrics, 2022, 40(12): 894-898.

图/表 1

参考文献 28

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GBM定位	致病基因	疾病	遗传方式	临床表型	进展至ESRD风险
Ⅳ型胶原蛋白	COL4A1^[16]	HANAC 综合征	常染色体显性	脑、眼、肌肉、肾脏（血尿、轻度蛋白尿、肾囊肿、肾衰竭）	成人后进入ESRD
Ⅳ型胶原蛋白	COL4A3/4/5/6^[10]	Alport综合征	常染色体/X连锁显性/双基因	肾脏（血尿、蛋白尿、进行性肾功能下降）、眼、耳	XLAS男性、ARAS、COL4A5/COL4A3或A4男性、COL4A3/4反式排列者100%进入ESRD
层粘连蛋白	LAMB2^[5]	PIERS/NS	常染色体隐性	脑、眼、肾脏（蛋白尿、镜下血尿、肾功能异常）/肾外表现少	婴儿期进展至ESRD/不足1/3患者婴幼儿期进展至ESRD
层粘连蛋白	LAMA5^[17]	原发性NS/激素耐药性肾病综合征	常染色体隐性	眼、骨骼、肌肉、呼吸道、肾脏（囊肿、蛋白尿、肾发育不良）	肾功能基本正常，个例报道进展至ESRD
巢蛋白	NID1^[13]	ADDWOC	常染色体显性	脑、头皮、癫痫，无肾脏表型报道	-
硫酸肝素蛋白多糖	AGRN ^[15]	先天性肌无力综合征	常染色体隐性	骨骼肌，无肾脏表型报道	-
硫酸肝素蛋白多糖	HSPG2^[14]	Schwartz-Jampel综合征1型	常染色体隐性	骨骼、肌肉、眼、耳、智力、睾丸，无肾脏表型报道	-

原发性肾小球基底膜相关肾病遗传背景与诊治

Genetic background, diagnosis and treatment of glomerular basement membrane-associated kidney disease

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