家族性IgA肾病的诊断及临床特征——并一4代40名成员家系分析  

Diagnosis of Familial IgA Nephropathy and Clinical Feature——one Family Constellation Analyses for a Four-Generation Chinese Family Consisted of 40 Members

作　　者：石书梅[1] 赵学智[2] 

机构地区：[1]济南军区总医院肾内科,济南250031 [2]第二军医大学附属长征医院肾内科全军肾脏病研究所,上海200003

出　　处：《中国中西医结合肾病杂志》2011年第10期867-871,I0001,共6页Chinese Journal of Integrated Traditional and Western Nephrology

基　　金：国家自然基金面上项目(No.30470804)

摘　　要：目的:复习国内外文献,明确遗传性IgA肾病的诊断标准,并对一较完整的4代40例家族性IgA肾病家系的临床及遗传特征进行对照分析。方法:对所获家系详细调查成员组成,并对现存的家系成员进行血常规、尿常规、肝肾功能、肾脏超声检查以及皮肤活检,排除其他遗传性疾病以及继发性肾脏病;对6例患者行肾脏活检了解病理类型,对照国内外家族性IgA肾病的诊断标准,明确该家系的诊断、了解其遗传特征。结果:目前国际上对于家族性IgA肾病的诊断分为4种情况:(1)可以明确诊断FIgAN;(2)疑似可能的FIgAN;(3)明确排除FIgAN;(4)无法确定的FIgAN。根据已知该家系的遗传关系绘制家系图,对现存的家系成员临床资料进行分析:27个非婚配家系成员中,12例患病,其中3例发生ESRD,9位成员存在不同程度的镜下血尿、蛋白尿和(或)血肌酐升高,8例因年龄尚小暂不能确定患病状态,需要长期的随访观察其尿检的变化情况。患者中6例行肾活检,3例为IgA肾病,另3例为系膜增殖性肾小球肾炎,电镜结果均未发现基底膜厚度的异常,6例皮肤活检未发现Ⅳ型胶原的缺失,排除了Alport综合征。结论:根据国内外诊断标准,该家系成员可以明确诊断为家族性IgA肾病。FIgAN是IgA肾病的特殊类型,预后较差,应引起临床医生对此疾病的重视,以期尽早的明确诊断及治疗。Objective：To review the literature and identify the diagnostic criteria of FIgAN,and to analyses clinical and hereditary feature about one family with four-generation Chinese family consisted of 40 members.Methods：To investigate the manning of the family and check all the members with routine analysis of blood,urine,and hepatic function,renal function,skin biopsy and others which can remove the secondary renal diseases or the others genetic disease.At the same time,we also give the renal biopsy to six volunteers in order to idengtify the type of the family and reviewed the pertinent literature to identify the diagnostic criteria of FIgAN.According to the relevant standard,the type of the family can be identified.Results：At present,the diagnostic criteria of FIgAN included four types：（1） Affected,to make a definite diagnosis of FIgAN;（2） Probably affected,to seem diagnosis of FIgAN;（3） Probably unaffected,to remove diagnosis of FIgAN ;（4） Status unknown,impossible diagnosis of FIgAN.According to the genetic relationship,we constructed the pedigree of the family.The clinical data of exist families were analyzed at the same time.In the 27 families,12 were involved.3 of them have occurred ESRD and the other 9 families have the renal injury with varying degrees of microscopic hematuria,proteinuria and /or serum creatinine increase.In addition,8 families should be received medical examination because of the adolescent that we cannot sure if they are the normal.Six patients have been received renal biopsy and 3 of them identified IgAN,the other three were mesangial proliferative glomerulonephritis.All of them can be removed other genetic renal disease,such as the Alport syndrome and thin basement membrane nephropathy,checked by the electron microscopy and the skin biopsy.Conclusion：According to the review of available literature,we can assess that the family belongs to the first status.Familial IgA nephropathy is a special type of IgAN and with a poor prognosis usually than SIgAN.We should pay

关 键 词：IGA肾病 家族性IGA肾病 常染色体显性遗传 遗传早现 

分 类 号：R692[医药卫生—泌尿科学]