PAX2和MYO1E突变双胞胎的一致性肾病综合征。

Oulimata K Grossman, Claire F Schretlen, Linda S Nield
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引用次数: 1

摘要

医学文献很少报道双胞胎诊断为与基因突变相关的肾病综合征。编码配对盒基因2 (PAX2)和非肌肉I类肌球蛋白(MYO1E)的突变与类固醇抵抗性肾病综合征的发生有关。我们描述了第一个病例,据我们所知,肾病综合征的双胞胎同时出现PAX2和MYO1E突变。病例报告:在32个月和33个月大,单绒毛膜,双羊膜双胞胎女孩出现肾病综合征。每对双胞胎在皮质类固醇治疗期间或完成后经历了三次复发。使用他克莫司可获得持续缓解。对每对双胞胎进行基因检测,发现两个MYO1E杂合突变和一个PAX2纯合突变。一对双胞胎的肾活检结果显示病理结果与微小改变肾病一致。这对双胞胎的表型基本相同。结论:我们的病例增加了关于基因突变双胞胎肾病综合征的医学文献。对我们独特患者的密切监测将提供关于PAX2和MYO1E联合突变的临床意义的新信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations.

Introduction: The medical literature is scant with reports of twins diagnosed with nephrotic syndrome associated with genetic mutations. Mutations in the protein coding paired box gene 2 (PAX2) and in the non-muscle class I myosin, myosin 1E, (MYO1E) have been implicated in the development of steroid-resistant nephrotic syndrome. We describe the first case, to our knowledge, of the concordant presentation of nephrotic syndrome in twins with simultaneous mutations in PAX2 and MYO1E.

Case report: At 32 months and 33 months of age, monochorionic, diamniotic twin girls presented with nephrotic syndrome. Each twin experienced three relapses during or after completion of corticosteroid treatment. Sustained remission was achieved with tacrolimus. Genetic testing of each twin revealed two heterozygous mutations of MYO1E and one homozygous mutation of PAX2. Renal biopsy results of one twin revealed pathologic findings consistent with minimal change nephropathy. The twins' phenotypes have been essentially identical.

Conclusion: Our cases add to the scant medical literature addressing nephrotic syndrome in twins with genetic mutations. Close monitoring of our unique patients will provide novel information about the clinical significance of combined mutations in PAX2 and MYO1E.

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