ALPORT-SYNDROME WITH NEUROFIBROMATOSIS TYPE-I - A CASE-REPORT

We report a 9-year-old boy with repeated fractures of the tibia from a ge 6 months and microscopic hematuria from age 2 years. His maternal f amily has a history of nephritis and his paternal family has neurofibr omatosis type-I (NF-I). The boy's renal biopsy revealed an irregular a ttenuation and splitting of the glomerular basement membrane. The skin biopsy was stained with monoclonal antibody against the alpha 5 chain of type IV collagen; the epidermal basement membrane was negative in the boy and segmentally positive in the boy's mother. We conclude that the patient inherited Alport syndrome from his mother and NF-I from h is father. We postulate this was a chance association and that this ca se does not suggest any relationship between the two diseases.