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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. Chronic nephritis, sensorineural deafness, growth and developmental retardation, hyperkinesis, and cleft soft palate in a 5-year-old boy. A new combination? Kawakami, H., Murakami, T., Murano, I., Ushijima, T., Taguchi, T., Hattori, S., Kajii, T. Nephron (1990) [Pubmed]
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