Abstract：
Mesangial proliferative glomerulonephritis (MsPGN) is the most common clinicopathologic feature of the primary glomerulonephritis. The hereditary susceptibility to MsPGN is rather complex. In this report, a Chinese case of proliferative glomerulosclerosis was recruited. Renal biopsy revealed extensive glomerulosclerosis with mesangial hypertrophy, and tubular atrophy and dilatation. Whole exome sequencing (WES) revealed compound heterozygous variants in TTC21B gene, which were confirmed by Sanger sequencing. The variants in TTC21B gene were the molecular pathogenic basis of this disorder, and this case help to understand the correlation of genotype and phenotypes of TTC21B mutations.
摘要：
肾小球系膜增生性肾小球肾炎（MsPGN）是原发性肾小球肾炎最常见的临床病理特征。MsPGN的遗传易感性相当复杂。在这份报告中,招募了一例中国增殖性肾小球硬化病例.肾活检显示广泛的肾小球硬化伴肾小球系膜肥大，和肾小管萎缩和扩张。全外显子组测序（WES）揭示了TTC21B基因中的复合杂合变体，Sanger测序证实了这一点。TTC21B基因的变异是本病的分子致病基础,本病例有助于了解TTC21B突变基因型和表型的相关性。
