遗传性肾脏疾病单中心3年临床调查

A single-center survey of hereditary kidney diseases

目的通过对遗传性肾脏疾病家系调查和总结,探讨遗传性肾脏疾病的临床特点。方法对2010年1月至2012年12月间在上海交通大学医学院附属瑞金医院肾脏科就诊的肾脏病患者进行家族史调查,同时对家系成员进行筛查和随访,必要时行肾活检、皮肤和肾组织不同类型Ⅳ胶原、α半乳糖苷酶A活性及肾小管功能特殊检查,明确遗传性肾脏疾病类型,总结遗传性肾脏疾病特点。结果 3年间符合家族性肾脏疾病的新发家系共536个,平均每年178.7个;其中明确诊断最多的疾病为家族性IgA肾病、Alport综合征、家族性局灶节段性肾小球硬化、Gitelman综合征和Fabry病,另外未分型家系269个,占50.2%。受累成员1416例,平均每家2.6例;发生终末期肾脏疾病(ESRD)家系154个,占28.7%。结论遗传性肾脏疾病并不少见,科室团队协作、重视家族史的调查、对正常家庭成员筛查并长期随访是遗传性肾脏疾病调查的主要手段。

Objective To discuss the characteristics of hereditary kidney diseases through pedigree investigation. Methods From Janual7 2010 to December 2012 ,family history investigation was carried out for all the patients in our department and clinical screening and follow-up were taken for their family members. Renal biopsy, different types of type IV collagen, oLgalaetosidae activity and renal tubular function were also tested to determine of the types of hereditary kidney disease and the clinical characteristics of hereditary kidney diseases were discussed. Results During the above period, totally 536 new pedigrees of familial kidney disease were diagnosed with an average of 178.7 per year. The most common diseases were fa- mifial IgA nephropathy, Alport syndrome, familial focal segmental glomeruloselerosis, Gitelman syndrome and Fabry disease. In the mean while there were 269 unclassified pedigrees, accounting for 50. 2 percent. There were 1416 involved members with an average of 2. 6 eases per family and 154 end-stage renal disease （ESRD） pedigrees accounting for 28.7 percent. Conclusion Hereditary kidney disease is not uncommon. Teamwork, family history investigation, screening and long-term follow-up of family members are the primary means of hereditary kidney disease investigation. It is important to establish specific diagnostic methods for making a definite diagnosis.