芬兰型先天性肾病综合征。75例患者的研究。
Congenital nephrotic syndrome of Finnish type. Study of 75 patients.
作者信息
Huttunen N P
出版信息
Arch Dis Child. 1976 May;51(5):344-8. doi: 10.1136/adc.51.5.344.
Abstract
Seventy-five patients with congenital nephrotic syndrome of Finnish type were identified in Finland in the period 1965-1973, giving an incidence of 12-2/10(5). A large placenta and proteinuria from birth are the hallmarks of the disease. About one-quarter of the patients had oedema and/or abdominal distension at birth and in all cases the full nephrotic syndrome was documented before 2 months. More than half of the patients died before 6 months and none lived longer than 2 years 3 months. A slight rise in blood urea nitrogen or serum creatinine levels occurred in 14 cases, but in none of these did a frank uraemia develop before death. Infection appeared to be the immediate cause of death in 31% of the cases; in 43% no cause of death other than congenital nephrotic syndrome could be shown. Thrombi in large vessels were found in 11 out of 58 necropsies.
摘要
1965年至1973年期间，芬兰确诊了75例芬兰型先天性肾病综合征患者，发病率为12 - 2/10(5)。巨大胎盘和出生时即出现蛋白尿是该病的特征。约四分之一的患者出生时伴有水肿和/或腹胀，所有病例在2个月前均确诊为完全性肾病综合征。超过一半的患者在6个月前死亡，无一例存活超过2年3个月。14例患者血尿素氮或血清肌酐水平略有升高，但这些患者在死亡前均未出现明显尿毒症。31%的病例中感染似乎是直接死因；43%的病例中除先天性肾病综合征外未发现其他死因。58例尸检中有11例发现大血管血栓形成。
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