Alport-like glomerular basement membrane changes with renal-coloboma syndrome
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 g...
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Published in | Pediatric nephrology (Berlin, West) Vol. 27; no. 7; pp. 1189 - 1192 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Berlin/Heidelberg
Springer-Verlag
01.07.2012
Springer Springer Nature B.V |
Subjects | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0931-041X 1432-198X |
DOI: | 10.1007/s00467-012-2125-9 |