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.

journal_name

Nephron

journal_title

Nephron

authors

Kawakami H,Murakami T,Murano I,Ushijima T,Taguchi T,Hattori S,Kajii T

doi

10.1159/000186136

subject

Has Abstract

pub_date

1990-01-01 00:00:00

pages

214-7

issue

2

eissn

1660-8151

issn

2235-3186

journal_volume

56

pub_type

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