Clinical Aspects of the Alport's Syndrome in Taiwanese

Alport's Syndrome之臨床觀察

李敏駿(Min-Chun Lee) ； 林清淵(Ching-Yuang Lin)

《Acta Nephrologica》 19卷1期 (2005/03) Pp. 14-19

摘要

Alport's syndrome是一個少見的、遺傳性、漸進性的腎絲球腎炎，臨床特徵包括血尿、感覺神經性聽力障礙、眼症和特別的腎絲球基底膜變化。在台灣，Alport's syndrome是一個不敘見的疾病，為了評估台灣Alport's syndrome在小孩發病的臨床特性、預後及影響死夭的危險因子，我們整理研究了近十九年來所照顧過的八組罹患Alport's syndrome的家族資料，共十六個病例，十名男性和六名女性，診斷年齡從四歲到十七歲大。全部的病人都有血尿症狀，十個男性與四個女性患者有聽力障礙，有十名病人發現有視力受損。有六名病患不幸的發展至末期腎病，另外有九名病人目前為慢性腎功能不全，還在追蹤治療中。

關鍵字

Alport's syndrome ； 末期腎病 ； 慢性腎功能不全 ； 聽力障礙

並列摘要

Alport's syndrome (AS) is a usually genetic heterogeneous progressive inherited glomerulonephritis that is characterized by hematuria, sensorineural hearing loss, ocular lesions, and specific alterations of the glomerular basement membrane. AS is not very commonly diagnosed during the pediatric period in Taiwan. To evaluate the clinical characteristics and outcome, as well as to identify the risk factors for mortality of AS, 16 cases in 8 groups of unrelated families with AS in the past 19 years were studied retrospectively. There were 10 boys and 6 girls. Their age at diagnosis ranged from 4 to 17 years. Hematuria was noted in all cases initially. Hearing impairment was noted in ten boys and four girls. Four boys and two girls progressed to near deafness. Ocular lesions developed in ten of 16 cases (62.5%) with sequelae. Four boys and two girls progressed into end-stage renal disease (ESRD). Nine cases progressed to chronic renal insufficiency (CRI) during the follow-up period.

並列關鍵字

Alport's syndrome ； end-stage renal disease ； chronic renal insufficiency ； hearing impairment