中国Alport综合征临床特征

Clinical characteristic patterns of patients with Alport syndrome in China

为分析和总结我国Alport综合征(AS)患者临床特征 ,选取我院确诊为AS的患者77例(男55例 ,女22例),以其尿液、肾功能、纯音测听、眼裂隙灯和眼底检查以及肾穿刺组织的常规检查作为临床表型资料进行分析和总结 ;并对74/77例患者进行了皮肤基底膜Ⅳ型胶原α5链免疫荧光学检查 ;对34/77例进行肾穿刺活组织检查。结果显示AS在16岁以前发病占92% ,其中10岁以前占68% ;首发症状以血尿并蛋白尿多见 ,占93.5 %的患者均有血尿 ,部分伴发作性肉眼血尿 ;85.7 %的患者伴有蛋白尿 ,且达肾病水平蛋白尿者为31.8 % ;感音神经性耳聋的男性患者发病率较国外报道高(分别为68 %和55 %) ,而在女性患者却相对较低(7 %和45 %) ;眼部病变发生率与国外报道类似。肾活检组织光镜下的病理变化以轻度系膜增生性肾小球肾炎多见(18/29例 ,62.1%) ;常规免疫荧光学染色多为IgM沉积(9/24例);52例男性患者皮肤基底膜中α5(IV)链染色49例阴性 ,3例阳性 ,女性患者中21例呈间断阳性 ,1例呈阳性 ;绝大多数患者(70/77例)有血尿或终末期肾脏病家族史 ;60%患者属于青少年型AS ,且男性患者在儿童期便可出现肾功能下降。提示我国AS有以下临床特征 :起病多在16岁以前 ,尤以10岁以前居多 ;血尿伴蛋白尿为常见首发症状 ;蛋白尿的发生率高且较重 ;男性患?

s To analyze and sum up the clinical characteristic patterns of the patients with Alport synˉdrome(AS)in China.Urinalysis,renal function tests,puretone audiometric examinations,and ophthalmologiˉcal examination(including cornea slit_lamp and funduscopy examination)were done in77patients with AS.In addition,immmunofluorescent assay for alpha5chain of typeⅣcollagen in the dermal basement membrane was performed in74of them,with34of them performed renal biopsy study.The results showed92%of the patients presented this syndrome before the age of sixteen,68%of them had this syndrome before the age of10.Hematuria and proteinuria were the most common initial presentation accounting for49%,and some paˉtients occurring gross hematuria in episode85.7%of the patients accompanied proteinuria and31.8%of them approaching the level of patient with nephrosis.The incidence of sensorineural hearing loss in male patients was higher than that reported abroad(68%versus55%)with female patients vice versa(7%versus45%).The incidence of the eye lesions was similar to that reported abroad.Mild mesangial proliferative glumerulonephritis could be found in pathological examination of the renal biopsy materials accounting for62%(18of29patients).IgM deposit could be discovered with the routine immunofluorescence staining in9of24cases.The staining for alpha5chain of typeⅣcollagen in the dermal basement membrane was negative in49male patients with intermittent positive in21female patients.Majority of the patients(70/77cases)had the family history of hematuria or end-stage renal disease.60%of the patients could be classified as the juvenile lescent type of AS,with renal function falling in the childhood period in the male patients indicating that the clinical characteristic patterns of the AS patients in our country could be shown as following:(1)Hematuria and proteinuria were the most common initial presentation with onset before age of16,most of them happened before age of10.(2)The incidence of proteinuria was higher and much severe.(3)The proˉportion of sensorineural hearing loss was much high in male patients.And(4)early onset of end_stage renal disease and poor prognosis.