Alport-like glomerular basement membrane changes with renal-coloboma syndrome.
Alport-like glomerular basement membrane changes with renal-coloboma syndrome.
复制标题
Alport 样肾小球基底膜随肾缺损综合征发生变化。
DOI：
10.1007/s00467-012-2125-9
复制
发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Iijima K.
中科院分区：
文献类型：
--
作者：
Ohtsubo H;Morisada N;Kaito H;Nagatani K;Nakanishi K;Iijima K.
研究背景位于染色体10q24上的PAX2基因突变是肾缺损综合征（RCS）的主要致病基因。PAX2在肾小球基底膜（GBM）的形成和维护中的作用仍然未知。病例诊断我们报告了一例13岁的日本女孩，她同时患有视盘缺损和肾功能不全。她的父亲和姐姐也有缺损和肾功能不全。肾脏病理结果显示GBM呈篮状编织模式，与Alport综合征相符，但IV型胶原α5染色正常。遗传学分析显示PAX2基因第2外显子（c.76dup，p.Val26Glyfsx27）存在杂合突变，而不存在与常染色体和X连锁Alport综合征相关的COL4A3、COL4A4和COL4A5突变。
BackgroundAutosomal dominant mutations in paired box gene 2 (PAX2), on chromosome 10q24, are responsible for renal coloboma syndrome (RCS). The role ofPAX2in glomerular basement membrane (GBM) formation and maintenance remains unknown.Case-diagnosisWe 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 aPAX2heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations ofCOL4A3,COL4A4, andCOL4A5,which are responsible for autosomal and X-linked Alport syndrome.ConclusionsPAX2mutations may result in abnormal GBM structure.