论文部分内容阅读
目的 :分析总结我国Alport综合征 (AS)患者的临床表现特点 ,探讨Ⅳ型胶原α链分布特点与遗传方式及临床表型之间的联系。 方法 :收集 87例临床病理诊断为AS患者的临床资料。采用特异性Ⅳ型胶原α3和α5链NC1区域的单克隆抗体 ,对这些患者肾组织及皮肤进行Ⅳ型胶原α链间接免疫荧光染色。 结果 :①该组患者以镜下血尿合并蛋白尿为最常见首发症状。 57 7%的患者存在听力异常 ,2 4 3 %的患者存在眼部异常。②根据Ⅳ型胶原α链免疫荧光结果进行分析 ,有 55例遗传方式为X 性连锁显性遗传 (XLAS) ,发生率 63 2 % ;8例为常染色体隐性遗传 (ARAS) ,发生率 9 2 %。其余 2 4例患者 (2 7 6 % )尚不能根据Ⅳ型胶原α3、α5链的缺失来判断其遗传方式。③XLAS组患者临床表型较ARAS组患者为重 ,且XLAS组患者男性病情重于女性。④典型XLAS组患者其疾病严重程度及临床预后均重于非典型XLAS组患者。 结论 :①我国AS遗传方式表现为XLAS者为 63 2 % ,ARAS者为 9 2 %。有 2 7 6 %临床病理诊断为AS患者其Ⅳ型胶原α链分布正常。XLAS不同性别患者以及XLAS和ARAS患者间在临床表现和预后上存在明显差异。②AS肾组织Ⅳ型胶原α链的分布方式及表达程度不仅能帮助确定遗传方式 ,而且能为临床判断患者病情程度、预后和进一步研
OBJECTIVE: To analyze and summarize the clinical features of patients with Alport syndrome (AS) in China, and to explore the relationship between the distribution characteristics of type Ⅳ collagen α chain and the genetic patterns and clinical phenotypes. Methods: Clinical data of 87 patients with AS diagnosed clinically and pathologically were collected. The specific type Ⅳ collagen α3 and α5 chain NC1 region of monoclonal antibodies to these patients kidney tissue and skin type Ⅳ collagen α indirect immunofluorescence staining. Results: ① The group of patients with microscopic hematuria with albuminuria is the most common initial symptom. 57% of patients had hearing loss and 24.3% of patients had ocular abnormalities. ② According to the results of immunofluorescence analysis of α-chain of type Ⅳ collagen, 55 cases were X-linked dominant inheritance (XLAS), the incidence was 63.2%; 8 cases were autosomal recessive (ARAS) with a rate of 9 2 %. The remaining 24 patients (276%) still can not be based on the type Ⅳ collagen α3, α5 chain loss to determine the genetic mode. ③ The clinical phenotype of patients in XLAS group was more serious than those in ARAS group, and the male patients in XLAS group were more serious than those in female. ④ The typical severity of the disease and the clinical prognosis of patients in the XLAS group were significantly higher than those in the atypical XLAS group. Conclusions: ① The AS genetic patterns in China are 63 2% for those with XLAS and 92% for those with ARAS. There are 276% of clinicopathological diagnosis of AS patients with type Ⅳ collagen α chain distribution. There are significant differences in clinical presentation and prognosis between XLAS and ARAS patients of different genders and XLAS. ②AS renal tissue type Ⅳ collagen α chain distribution and expression level can not only help determine the genetic mode, but also for clinical judgment of the patient’s condition, prognosis and further research