title: Chronic nephritis, sensorineural deafness, growth and developmental retardation, hyperkinesis, and cleft soft palate in a 5-year-old boy. A new combination?
abstract: A 5-year-old Japanese boy showed nephritis similar to, but distinct from, that in Alport syndrome. Nephrotic syndrome without hematuria was noticed at age 2, although renal biopsy at age 4 revealed widespread irregular thickening of the glomerular basement membrane with splitting of the lamina densa on electron microscopy, characteristic of nephritis in Alport syndrome. Sensorineural deafness was noticed at age 4 weeks by no auditory brain stem response, unusually early for Alport syndrome. Goodpasture antigen and amyloid P component were found in the glomerular basement membrane. Thus, the antigenicity of the glomerular basement membrane was different from that in male patients with X-linked Alport syndrome. In addition, growth and developmental retardation, hyperkinesis, and cleft soft palate were seen. These features are a hitherto undescribed combination. The family history was negative for any of the features of the boy.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kawakami
authors.forename: T
authors.initials: T
authors.lastname: Murakami
authors.forename: I
authors.initials: I
authors.lastname: Murano
authors.forename: T
authors.initials: T
authors.lastname: Ushijima
authors.forename: T
authors.initials: T
authors.lastname: Taguchi
authors.forename: S
authors.initials: S
authors.lastname: Hattori
authors.forename: T
authors.initials: T
authors.lastname: Kajii
mesh_terms: D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications*; D003638:Deafness / Q000150:complications*; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D006948:Hyperkinesis / Q000150:complications*; D007678:Kidney Glomerulus / Q000276:immunology / Q000473:pathology; D008297:Male; D009393:Nephritis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009394:Nephritis, Hereditary / Q000175:diagnosis; D010375:Pedigree; D013577:Syndrome