X连锁无丙种球蛋白血症合并膜增生性肾小球肾炎  

X-linked agammaglobulinemia with membranoproliferative glomerulonephritis

作　　者：焦晨峰 赵丽丽 姜玲 徐峰 程震 JIAO Chenfeng;ZHAO Lili;JIANG Ling;XU Feng;CHENG Zhen(National Clinical Research Center of Kidney Diseases,Jinling Hospital,Nanjing University School of Medicine,Nanjing 210016,China)

机构地区：[1]东部战区总医院国家肾脏疾病临床研究中心全军肾脏病研究所,南京210016

出　　处：《肾脏病与透析肾移植杂志》2021年第4期394-398,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：国家重点研发计划课题(2016YFC0901202)。

摘　　要：本文在国内首次报道1例青少年男性,因尿检异常伴血压升高入院。入院查血白蛋白正常,球蛋白低(14g/L),血IgG、IgM、IgA偏低,外周血CD19+B细胞显著降低(8个/μl,<2%),基因检测提示X染色体BTK基因错义突变(c.82C>T,p.R28C),患者为半合子突变,母亲为该致病基因携带者;肾穿刺活检提示膜增生性肾小球肾炎(MPGN)。诊断为X连锁无丙种球蛋白血症合并MPGN。给予血管紧张素Ⅱ受体拮抗剂治疗后尿检改善。We report a case of adolescent male who was admitted to hospital due to proteinuria with microscopic hematuria and hypertension.On admission,serum albumin was normal,but globulin was as low as 14 g/L.Serum IgG,IgM and IgA levels were low and peripheral blood CD19+B cells were significantly decreased(8/μl,<2%).Whole exome sequencing indicated that the X-chromosome BTK gene had a missense mutation(C.82 c>T,p.R28 C).The patient was a hemi-zygote mutation and his mother who was a carrier of the BTK gene.Renal biopsy revealed membranoproliferative glomerulonephritis.The final diagnosis was X-linked agammaglobulinemia complicated with MPGN.This is the first case reported in China.Proteinuria and hematuria improved after angiotensinⅡreceptor antagonist treatment.

关 键 词：X连锁无丙种球蛋白血症 BTK基因 膜增生性肾小球肾炎 遗传性疾病 

分 类 号：R692.31[医药卫生—泌尿科学] R596.1[医药卫生—外科学]