/LAMB2-related infantile-onset nephrotic syndrome

LAMB2-related infantile-onset nephrotic syndrome

MONDO:0013621

Also Known As

mesangial sclerosis, diffuse renal, with ocular abnormalitiesNPHS5nephrotic syndrome, type 5, with or without ocular abnormalities

Definition

LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.