Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.
Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.
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DOI：
10.1159/000445679
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发表时间：
2016-01
影响因子：
0.7
通讯作者：
Narita I
中科院分区：
文献类型：
--
作者：
Iwafuchi Y;Morioka T;Morita T;Yanagihara T;Oyama Y;Morisada N;Iijima K;Narita I
配对盒蛋白2（PAX 2）突变的常见肾脏表型是肾缺损综合征。我们报告了一个与PAX 2突变相关的不同肾脏表型的单一家族。先证者表现为类固醇耐药局灶节段性肾小球硬化伴视神经缺损，而他的两个儿子表现为严重的肾发育不全伴终末期肾病，伴或不伴视神经缺损。在所有3例病例中，均鉴定出杂合PAX 2基因突变（外显子2; NM_003987.3：c.76dupG，p.Val26Glyfs*28）。基于先证者的组织病理学结果，我们假设自噬功能障碍与PAX 2突变的局灶节段性肾小球硬化的病理生理学相关。详细的眼底镜检查-包括视盘-可能有助于诊断与PAX 2突变相关的肾脏异常。
A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons showed severe renal hypoplasia with end-stage renal disease, with or without optic coloboma. In all three cases, a heterozygous PAX2 genetic mutation was identified (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28). Based on histopathological findings of the proband, we hypothesized that autophagic dysfunction was associated with the pathophysiology of the focal segmental glomerulosclerosis with PAX2 mutation. Detailed funduscopic examination – including the optic disc – might be useful for the diagnosis of renal anomalies associated with PAX2 mutation.