Alport syndrome with neurofibromatosis type-I: a case report.
We report a 9-year-old boy with repeated fractures of the tibia from age 6 months and microscopic hematuria from age 2 years. His maternal family has a history of nephritis and his paternal family has neurofibromatosis type-I (NF-I). The boy's renal biopsy revealed an irregular attenuation 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 his father. We postulate this was a chance association and that this case does not suggest any relationship between the two diseases.
Ding
J
J
Department of Pediatrics, First Hospital, Beijing Medical University, P.R. China.
Yang
J Y
JY
Yao
Y
Y
Liu
J C
JC
Li
Y B
YB
Yu
L X
LX
D002648:Child; D006417:Hematuria / Q000150:complications; D006801:Humans; D007150:Immunohistochemistry; D007668:Kidney / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012008:Recurrence; D013978:Tibial Fractures / Q000150:complications