Dense deposit disease and the factor HH402 allele
Dense deposit disease and the factor HH402 allele
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DOI：
10.1007/s10157-008-0031-z
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发表时间：
2008-06-01
影响因子：
2.3
通讯作者：
Butani, Lavjay
中科院分区：
文献类型：
--
作者：
Lau, Keith K.;Smith, Richard J.;Butani, Lavjay
在此，我们描述的情况下，一个8岁的男孩谁提出了肾炎性肾病综合征。他的实验室检查结果显示血清补体3水平持续偏低。进行了肾活检，根据活检结果，患者被诊断为致密存款病/II型膜增生性肾小球肾炎（DDD/MPGN II）。患者接受隔日口服皮质类固醇、血管紧张素转换酶（ACE）抑制剂和他克莫司治疗。因子H突变分析显示Y 402 H和I62 V等位基因多态性。我们的报告的目的是讨论关联的H402等位基因变异因子H与DDD/MPGN II表型及其可能的治疗意义。
Herein, we describe the case of an 8-year-old boy who presented with a nephritic nephrotic syndrome. His laboratory investigation was significant for a persistently low serum complement 3 level. A renal biopsy was performed, based on which, he was diagnosed with dense deposit disease/membranoproliferative glomerulonephritis type II (DDD/MPGN II). He was treated with alternate-day oral corticosteroids, angiotensin-converting enzyme ( ACE) inhibitors and tacrolimus. Factor H mutational analysis showed the Y402H and I62V allele polymorphisms. The purpose of our report is to discuss the association of the H402 allele variant of factor H with the DDD/MPGN II phenotype and its possible therapeutic implications.