摘要
目的报道一例新生儿弥漫性系膜硬化型先天性肾病综合征,以提高对该病的认识。方法收集一例于2010年10月在中山大学附属第一医院儿科住院确诊为先天性肾病综合征弥漫性系膜硬化型的患儿临床资料,并复习文献,总结弥漫性系膜硬化型先天性肾病综合征的病因、临床表现、病理特点及预后。结果患儿生后即有水肿、大量蛋白尿等肾病综合征表现,并很快出现肾功能不全,进展至肾功能衰竭,肾活检病理符合弥漫性系膜硬化型,2个多月后死亡。结论先天性肾病综合征弥漫性系膜硬化型的临床表现为出生时或幼儿期内出现肾病综合征的特征,起病时可已有肾功能不全,进行性肾功能减退,确诊须肾穿病理,本病预后差,目前无特殊治疗。
Objective： To report a case of congenital nephrotic syndrome whose renal pathology was diffuse mesangial sclerosis （DMS） , in order to improve the recognition of the disease. Methods： To collect the clinical manifestations characteristic imaging of a case with congenital nephrotic syndrome of DMS, and to review and summarize the etiology, clinical manifestations, pathological features and prognosis of DMS. Results ： She had early onset of clinical features of nephrotie syndrome, soon become renal insufficiency, progress to end - stage renal disease, and her renal biopsy pathology was diffuse mesangial sclerosis. She died two months later. Conclusions ： DMS manifested congenital nephrotic syndrome and often comprised renal insufficiency earlier, then progressing to renal failure. Renal biopsy is way to diagnose DMS. The disease has a poor prognosis, with no special treatment at present.
出处
《中国优生与遗传杂志》
2012年第8期90-91,71,F0003,共4页
Chinese Journal of Birth Health & Heredity
