Sheu J N, Chen J H
Division of Pediatric Nephrology, Department of Pediatrics, Chung Shan Medical and Dental College Hospital, No.23, Section 1, Taichung Kang Road, Taichung, Taiwan 40334, Republic of China.
Pediatr Nephrol. 1999 Nov;13(9):927-9. doi: 10.1007/s004670050730.
The occurrence of nephrosis in the first 3 months of life is rare and is termed 'congenital nephrotic syndrome.' The congenital nephrotic syndrome is a group of heterogeneous diseases with a clinical course that differs markedly from the childhood nephrotic syndrome. The coexistence of a congenital nephrotic syndrome and gonadal dysgenesis in a 46,XY karyotype with normal female external genitalia is extremely rare. Frequent severe infections are often seen in the Finnish type, but sepsis leading to death is rare in the neonatal onset of gonadal dysgenesis. This report describes an unusual case of complete XY gonadal dysgenesis in a 46,XY female neonate with the congenital nephrotic syndrome and overwhelming sepsis.
肾病在出生后前3个月发生较为罕见，被称为“先天性肾病综合征”。先天性肾病综合征是一组异质性疾病，其临床病程与儿童肾病综合征明显不同。46,XY核型且女性外生殖器正常的个体中，先天性肾病综合征与性腺发育不全并存极为罕见。芬兰型常可见频繁的严重感染，但性腺发育不全新生儿期败血症导致死亡的情况罕见。本报告描述了1例患有先天性肾病综合征和严重败血症的46,XY女性新生儿完全性XY性腺发育不全的罕见病例。
