儿童Alport综合征30例肾脏和皮肤Ⅳ胶原分布特点  

Renal and skin distribution of the type Ⅳ collagen in Alport syndrome

作　　者：何旭[1] 刘光陵[1] 夏正坤[1] 任献国[1] 高远赋[1] 樊忠民[1] 付元凤[1] 伏洁[1] 高春林[1] 茅松[1] 陈蓉[1] 

机构地区：[1]南京军区南京总医院,江苏南京210003

出　　处：《临床儿科杂志》2009年第4期330-333,共4页Journal of Clinical Pediatrics

摘　　要：目的通过分析30例Alport综合征(AS)患儿肾脏和皮肤Ⅳ胶原分布特点,探讨Ⅳ胶原分布与临床表型的关系。方法对30例Alport综合征患儿资料进行总结,并分析肾组织穿刺和皮肤活检中肾脏和皮肤Ⅳ胶原分布特点,总结不同的Ⅳ型胶原α链分布方式与临床表型的相关关系。结果30例患儿中29例表现为肾脏和(或)皮肤Ⅳ胶原α链分布异常,1例正常。其中24例(占80.0%)为X连锁显性遗传性AS(XDAS),男20例,女4例;5例(占16.7%)为常染色体隐性遗传性AS(ARAS)。XDAS组患儿1例临床表现为孤立性血尿型(4.2%),6例为血尿合并蛋白尿型(25.0%),16例为肾病综合征型(66.7%),1例为肾功能不全型(4.1%);平均尿蛋白定量男1.74 g/24h,女0.83 g/24 h;3例发现高频听力减退均为男性,男性患儿病情明显重于女性。ARAS组患儿5例均表现为血尿合并蛋白尿型;平均尿蛋白定量0.62 g/24 h;未发现眼耳损害。结论XDAS患儿病情重,病程进展快,不同性别在病情严重程度上存在明显的差异;ARAS患儿病情相对较轻。Alport综合征的Ⅳ型胶原α链分布与临床表型密切相关。肾脏和皮肤Ⅳ胶原免疫荧光检测是目前诊断Alport综合征的有效手段,对判断疾病严重程度和远期预后都有重要意义。Objective To explore the relationship between phenotype and distribution of type Ⅳ collagen by detecting the renal and skin distribution of type Ⅳ collagen in Alport syndrome （AS）. Methods Thirty patients with Alport syndrome （AS） hospitalized were retrospectively reviewed. The age of patients were from 15 months to 13 years. Renal and skin biopsies were performed in all patients. Results Distribution of type IV collagen were abnormal in 29 of 30 patients and was normal only in one patient. Among them, 24 （80.0%） patients were diagnosed with X-linked AS （XDAS） （20 male, 4 female）. Five （10.0%） patients were diagnosed to be autosomal recessive AS （ARAS）. In XDAS patients, one （4.2%） patient showed the symptom of isolated hematuria, 6 （25.0%） hematuria and proteinuria, 16 （62.5%） nephrotic syndrome, 1 （4.1%） renal function failure. The mean urine protein was 1.74 g/24 h in male patients and 0.83 g/24 h in female. Three cases suffered hearing lose/deafness and all of them were male patients. The condition was worse in male patients than in female. In ARAS patients, five patients were all showed hematuria and protcinuria. The mean urine protein was 0.62 g/24 h. None showed the hearing and vision impairment. Conclusions The condition of XDAS patients is more serious than ARAS, and progressed more rapidly. The conditions are significantly different between male and female patients. The condition of ARAS patients is relatively better. There are strong relationships between type Ⅳ collagen distribution and phenotype. Determining renal and skin distribution of type Ⅳ collagen not only have value in making diagnosis, but also aid in determining the degree and prognosis of AS.

关 键 词：ALPORT综合征 肾组织活检 皮肤活检 Ⅳ胶原 

分 类 号：R726.9[医药卫生—儿科]