19例家族性局灶节段性肾小球硬化的临床研究  

Clinical investigation of familial focal segmental glomerular sclerosis

作　　者：王朝晖[1] 马骏[1] 朱斌[1] 潘晓霞[1] 任红[1] 张文[1] 王伟铭[1] 孙尉倩[1] 朱杰[2] 杨俪[1] 陈楠[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏科,上海200025 [2]上海师范大学数理学院应用数学系

出　　处：《肾脏病与透析肾移植杂志》2009年第1期35-38,48,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：上海市卫生局重点学科基金(05III001);上海市重点学科基金(T0201);上海市领军人才基金;上海市科委重点项目(07JC14037)

摘　　要：目的:通过对家族性局灶节段性肾小球硬化(FSGS)患者家系调查和总结,探讨家族性FSGS特点。方法:前瞻性对2006-01至2007-12入住我科并经肾活检确诊的非继发性FSGS患者进行家系调查,对其中有家族史的FSGS患者进行家系成员筛查,同时行IV型胶原和α半乳糖酐酶活性检查排除Alport综合征和Fabry病,比较家族性FSGS和散发性FSGS患者临床特点。结果:我院2006年1月～2007年12月经肾活检确诊的非继发性FSGS共213例,其中家族性FSGS共19例,占非继发性FSGS总病例的8.9%。19例家族性FSGS中男性10例,女性9例,和散发性FSGS性别相比(男:女=100:94)无显著差异(P>0.05);家族性FSGS患者平均24h尿蛋白水平(1.6±1.6)g,与散发性FSGS患者(1.8±1.7)g相比无显著差异(P>0.05);家族性FSGS先证者中血肌酐(167.5±166.6)μmol/L,与散发性FSGS(198.4±190.6)μmol/L相比无显著差异(P>0.05)。19个家系中有5个家系各有2例患者经肾活检确诊为FSGS,7个家系为1例肾活检证实FSGS伴1例或1例以上ESRF,7个家系为1例肾活检证实FSGS伴有1例或1例以上亲属蛋白尿,或不明原因的肾功能不全。结论:家族性FSGS发生率较高,达非继发性FSGS总数的8.9%,临床表现方面家族性和散发性FSGS相比无明显差异,较易漏误诊,通过家系调查可以明显提高家族性FSGS诊断率。重视家族性FSGS的筛查,也将有助于遗传性肾脏疾病的进一步研究。Objective： To discuss the characteristics of familial patients with FSGS through pedigree investigation. Methodology：From January, 2006 to December, 2007, pedigree investigation was taken for all patients with non-secondary FSGS who admitted in our department of nephology. A total of ninteen patients were found with family history. The clinical screening examinations were taken for their family members, type Ⅳ collagen and α-galactosidae activity were also tested to exclude Alport syndrome and Fabry disease. The clinical characteristics of familial and sporadic FSGS patients were compared. Results：During the above period, totally 213 patients were non-secondary FSGS diagnosed by renal biopsy. Among them, 19 patients had family history, ten men and nine women, accounting for 8.9% in all FSGS. The gender construction has no significant difference compared with sporadic cases （ M ： F = 100 ： 94, P 〉 0. 05 ）. The average level of 24-hours urine protein was （ 1.6 ± 1.6） g in familial FSGS patients, compared with （ 1.8 ± 1.7 ） g in sporadic FSGS patients, with no significant difference （ P 〉 0. 05 ）. The average level of serum creatinine was （ 167.5 ± 166. 6 ） μmol/L in familial FSGS proband, while （198.4± 190. 6） μmol/L in sporadic FSGS patients, with no significant difference （P 〉 0. 05 ）. Among the 19 FSGS families, five had two members confirmed as FSGS by renal biopsy, seven families had one cases of renal biopsy confirmed FSGS and more than one cases with ESRF, others had one cases of renal biopsy confirmed FSGS and one or more relatives with proteinuria or unexplained renal insufficiency. Conclusion ： Familial FSGS has a high incidence in all FSGS. With respect to clinical manifestations there was no significant difference between sporadic patients and familial ones, so it was easy for missed diagnosis. Careful pedigree investigation can significantly improve the diagnostic rate, Paying attention to familial FSGS screening will also contribute to the furthe

关 键 词：局灶节段性肾小球硬化 家族性 临床特点 肾活检 

分 类 号：R692.6[医药卫生—泌尿科学] R692[医药卫生—外科学]