[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. / Mutacja genu LAMB2 jako przyczyna wrodzonego zespolu nerczycowego zwiazanego z anomaliami galek ocznych i hipotonia miesni.

UNLABELLED: 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). CONCLUSIONS: 1. Mutations in LAMB2 gene should be included in the work-up of patients with CNS in the presence of eye anomalies. 2. Severe phenotypes of Pierson syndrome are associated with marked handicaps and a poor outcome.