Families

This is a very rare disease with only about 100 affected individuals c urrently reported in the literature, but the true number is likely to be many more than this. Mutations in the LAMB2gene affect the structure of the basement membranes in the kidney, muscles and eye. These abnormalities result in the major clinical features seen in babies and young people with two mutations in the LAMB2gene. With severe disease, the baby is affected from birth with abnormal eye development and floppy muscles. Proteinuria and generalised swelling of the body occur in the first few months and kidney failure develops before the end of the first year of life. Severely affected babies will require a kidney transplant. However some people have milder disease with proteinuria only that can be treated with ACE inhibitors to delay the onset of kidney failure and the need for kidney transplantation.

Inheritance is autosomal recessive which means that affected individuals have two mutations. Mutations may be the same (homozygous) which occurs if the parents are related even if they are related many generations previously. Alternatively mutations may be different from each other (compound heterozygous). Genetic testing is the only way to make the diagnosis of LAMB2-associated nephropathy with certainty.