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

Abstract

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

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

Figures/Tables 1

References 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	-

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

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