CAJ | 학술논문

目的：了解儿童Alport综合征临床和病理特点。方法回顾性分析1989年3月到2012年6月住院并明确诊断为Alport综合征62例患儿的临床及病理资料。结果 X连锁Alport综合征（XL-AS）58例，常染色体隐性遗传Alport综合征（AR-AS）4例。在XL-AS患儿中，男47例，女11例。多数患儿以上呼吸道感染为诱因，以血尿和（或）蛋白尿起病。不同性别XL-AS患儿的阳性家族史、肾小管功能异常、高血压、肾功能受损、眼或耳病变比例及肾组织光镜下病理改变的差异均无统计学意义。电镜下广泛性肾小球基底膜致密层撕裂分层男83.0%（39/47），女18.2%（2/11）），性别差异有统计学意义（P=0.000），其余患儿表现为部分基底膜致密层撕裂、分层。男性XL-AS蛋白尿进展与年龄显著相关（r=0.501，P=0.000）。5例XL-AS男性患儿在11~16岁发生肾衰竭。结论 Alport综合征以X连锁显性遗传为主，男性电镜下基底膜广泛致密层撕裂比例高，且蛋白尿随年龄进展显著；肾脏或皮肤Ⅳ型胶原检测有助于诊断和判断遗传类型。
목적：료해인동Alport종합정림상화병리특점。방법회고성분석1989년3월도2012년6월주원병명학진단위Alport종합정62례환인적림상급병리자료。결과 X련쇄Alport종합정（XL-AS）58례，상염색체은성유전Alport종합정（AR-AS）4례。재XL-AS환인중，남47례，녀11례。다수환인이상호흡도감염위유인，이혈뇨화（혹）단백뇨기병。불동성별XL-AS환인적양성가족사、신소관공능이상、고혈압、신공능수손、안혹이병변비례급신조직광경하병리개변적차이균무통계학의의。전경하엄범성신소구기저막치밀층시렬분층남83.0%（39/47），녀18.2%（2/11）），성별차이유통계학의의（P=0.000），기여환인표현위부분기저막치밀층시렬、분층。남성XL-AS단백뇨진전여년령현저상관（r=0.501，P=0.000）。5례XL-AS남성환인재11~16세발생신쇠갈。결론 Alport종합정이X련쇄현성유전위주，남성전경하기저막엄범치밀층시렬비례고，차단백뇨수년령진전현저；신장혹피부Ⅳ형효원검측유조우진단화판단유전류형。
Objective To analyze the clinical and pathological characteristics of Alport syndrome in children. Methods Clinical and pathological information gathered from 62 patients during March 1989 to August 2012 was retrospectively analyzed. Results Four autosomal recessive Alport syndromes (AR-AS) and 58 X-linked Alport syndromes (XL-AS) were analyzed. Of the XL-AS, 47 were boys and 11 were girls. Most of patients induced by upper respiratory tract infections, and onset with hematuria and proteinuria. There was no signiifcant gender difference in family history, impaired renal tubular proteins, hypertension, im-paired renal function, hearing loss, ocular abnormalities or renal pathological changes under light microscopy. However, extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 83.0%male and 18.2%female patients (P=0.000) and the rest patients were presented with limited distribution of typical GBM changes. Proteinuria progressed signiif-cantly with age in XL-AS males (r=0.501, P=0.000). Five XL-AS patients developed to end stage renal disease (ESRD) between 11 to 16 years old. Conclusions XL-AS is the main inherited type and severe changes of GBM are common in XL-AS males. Proteinuria increases remarkably with age. The detection of type IV collagen in renal tissue or skin is helpful to diagnose Alport syndrome and conifrm inheritance modes.