Zurowska Aleksandra, Załuska-Leśniewska Iga, Zenker Martin
Klinika Nefrologii Dzieciecej, Akademia Medyczna w Gdańsku.
Przegl Lek. 2006;63 Suppl 3:37-9.
Mutations in the LAMB2 gene encoding laminin beta2, a component of the glomerular basement membrane and the neuro-muscular junction are responsible for the characteristic renal and eye abnormalities of Pierson syndrome. We report a girl with confirmed LAMB2 mutation who presented with early onset Congenital Nephrotic Syndrome (CNS) with renal failure and ocular findings of bilateral microcoria, persistent hyperplastic primary vitreous, right microphtalmia and left eye cataract. Automated peritoneal dialysis was started from the 3rd month of life. Severe muscle hypotonia with motor and mental delay were observed during the first year of life. She experienced numerous serious infections from birth and died at the age of 15 months due to a fulminant infection. Genetic studies revealed two novel mutations in LAMB2 gene (compound heterozygosity).
编码层粘连蛋白β2的LAMB2基因突变，层粘连蛋白β2是肾小球基底膜和神经肌肉接头的一个组成部分，该突变是皮尔逊综合征典型肾脏和眼部异常的病因。我们报告一名确诊为LAMB2突变的女孩，她患有早发性先天性肾病综合征（CNS）并伴有肾衰竭，眼部表现为双侧小瞳孔、持续性增生性原发性玻璃体、右眼小眼球和左眼白内障。出生3个月起开始进行自动腹膜透析。在出生后的第一年观察到严重的肌张力减退并伴有运动和智力发育迟缓。她自出生起经历了多次严重感染，15个月时因暴发性感染死亡。基因研究揭示了LAMB2基因中的两个新突变（复合杂合性）。
