Chronic nephritis, sensorineural deafness, growth and developmental retardation, hyperkinesis, and cleft soft palate in a 5-year-old boy. A new combination?
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.
Kawakami
H
H
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Murakami
T
T
Murano
I
I
Ushijima
T
T
Taguchi
T
T
Hattori
S
S
Kajii
T
T
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