title: Alport syndrome with neurofibromatosis type-I: a case report.
abstract: 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.
authors.affiliation: Department of Pediatrics, First Hospital, Beijing Medical University, P.R. China.
authors.forename: J
authors.initials: J
authors.lastname: Ding
authors.forename: J Y
authors.initials: JY
authors.lastname: Yang
authors.forename: Y
authors.initials: Y
authors.lastname: Yao
authors.forename: J C
authors.initials: JC
authors.lastname: Liu
authors.forename: Y B
authors.initials: YB
authors.lastname: Li
authors.forename: L X
authors.initials: LX
authors.lastname: Yu
mesh_terms: 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