科研之友
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摘要
Rationale: C3 glomerulonephritis (C3GN) and complement-mediated hemolytic uremic syndrome (HUS) both result from the abnormal regulation of the complement system. A significant number of patients with C3GN or complement-mediated HUS have mutations of more than 1 complement protein. This discovery has had a major impact on identifying the underlying cause of familial C3GN or complement-mediated HUS. @@@ Patient concerns: We report the cases of 2 brothers (herein referred to as patient II-1 and patient II-9), both with complement disorders that differed in their clinical and genetic features. @@@ Diagnoses: Patient II-1 clinically presented with nephrotic syndrome and acute kidney injury and pathologically presented with C3GN combined with thrombotic microangiopathy (TMA) and subacute tubulointerstitial nephritis. Meanwhile, patient II-9 clinically presented with HUS and pathologically presented with TMA combined with acute severe tubular injury. @@@ Interventions: Screenings for genetic mutations contributed to complement system dysregulation were performed on patient II-1. @@@ Outcomes: The genome sequencing identified that patient II-1 had a heterozygous mutation in the C3 gene (c. C1774T/p. R592W). Nine other relatives of the brothers were checked for this C3 mutation and only the daughter of patient II-1 (herein referred to as patient III-2) carried it, but so far, she does not have any clinical manifestations of kidney disease. @@@ Lessions: Family members with a dysregulation of the complement alternative pathway may differ in its clinical and genetic features.
- 出版日期2017-6
- 单位北京大学; 中国人民解放军总医院
