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Pediatric Nephrology

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01-07-2012 | Brief Report

Alport-like glomerular basement membrane changes with renal-coloboma syndrome

Authors: Hiromi Ohtsubo, Naoya Morisada, Hiroshi Kaito, Koji Nagatani, Koichi Nakanishi, Kazumoto Iijima

Published in: Pediatric Nephrology | Issue 7/2012

Abstract

Background

Autosomal dominant mutations in paired box gene 2 (PAX2), on chromosome 10q24, are responsible for renal coloboma syndrome (RCS). The role of PAX2 in glomerular basement membrane (GBM) formation and maintenance remains unknown.

Case-diagnosis

We report a case of a 13-year-old Japanese girl who had both optic disk coloboma and renal insufficiency. Her father and sister also had both coloboma and renal dysfunction. Renal pathological findings revealed a basket-weave pattern of the GBM, which was compatible with Alport syndrome, but type IV collagen α5 staining was normal. The patient’s findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.

Conclusions

PAX2 mutations may result in abnormal GBM structure.

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Title: Alport-like glomerular basement membrane changes with renal-coloboma syndrome
Authors: Hiromi Ohtsubo
Naoya Morisada
Hiroshi Kaito
Koji Nagatani
Koichi Nakanishi
Kazumoto Iijima
Publication date: 01-07-2012
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 7/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-012-2125-9

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Alport-like glomerular basement membrane changes with renal-coloboma syndrome

Abstract

Background

Case-diagnosis

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case-diagnosis

Conclusions

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