Wei Gong, Zhihong Liu, Huiping Chen, Caihong Zeng, Zhaohong Chen, Leishi Li
Research Institute of Nephrology, Jinling Hospital, Nanjing University School of Medicine, China.
Nephrol Dial Transplant. 2006 Nov;21(11):3146-54. doi: 10.1093/ndt/gfl394. Epub 2006 Aug 29.
Alport syndrome (AS) is a clinically and genetically heterogeneous nephropathy. The goal of the present study is to delineate clinical characteristics and the distribution of type IV collagen chains in Chinese AS patients and to identify any alpha(IV)-chain expression and clinical phenotype correlation.
A total of 126 biopsy-proven patients meeting immunofluorescence criteria for the diagnosis of AS were investigated retrospectively.
Microscope haematuria associated with proteinuria was observed as the initial symptom in 77.8% of the patients; 59.8% showed hearing impairment and 22.9% had ocular abnormalities. Renal biopsies from 118 patients revealed mesangial proliferative glomerulonephritis (61.9%) and focal and segmental sclerosis glomerulonephritis (37.3%). Ten different distribution patterns for the type IV collagen alpha-chains were found in the kidney; six of these are presented here for the first time. Based on renal immunofluorescence findings, 113 patients (89.7%) were classified as X-linked dominant inherited AS (XLAS) and 13 (10.3%) as autosomal recessive AS (ARAS). The XLAS group was divided into typical and non-typical subgroups according to the expression patterns for the alpha3(IV)-chain. Clinical phenotypes were more severe in XLAS patients than in ARAS patients and the prognosis was poorer in typical XLAS patients than non-typical XLAS patients.
In China, the incidence of XLAS is 89.7% and 10.3% for ARAS. Chinese patients with AS have various distribution patterns of type IV collagen alpha-chains. The distribution pattern of type IV collagen alpha-chains in the kidney may correspond to the severity of the clinical phenotype.
Alport综合征（AS）是一种临床和遗传异质性肾病。本研究的目的是描述中国AS患者的临床特征和IV型胶原链的分布，并确定α（IV）链表达与临床表型之间的相关性。
对126例经活检证实符合AS免疫荧光诊断标准的患者进行回顾性研究。
77.8%的患者以镜下血尿伴蛋白尿为首发症状；59.8%有听力障碍，22.9%有眼部异常。118例患者的肾活检显示系膜增生性肾小球肾炎（61.9%）和局灶节段性硬化性肾小球肾炎（37.3%）。在肾脏中发现了10种不同的IV型胶原α链分布模式；其中6种是首次在此呈现。根据肾脏免疫荧光结果，113例患者（89.7%）被分类为X连锁显性遗传性AS（XLAS），13例（10.3%）为常染色体隐性AS（ARAS）。XLAS组根据α3（IV）链的表达模式分为典型和非典型亚组。XLAS患者的临床表型比ARAS患者更严重，典型XLAS患者的预后比非典型XLAS患者更差。
在中国，XLAS的发病率为89.7%，ARAS为10.3%。中国AS患者具有多种IV型胶原α链分布模式。肾脏中IV型胶原α链的分布模式可能与临床表型的严重程度相对应。
