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[儿童显性多囊肾病。与年龄相关的临床特征及早期诊断问题]

[Dominant polycystic kidney disease in children. Clinical aspects related to age and problems of early diagnosis].

作者信息

Patriarca P L, Branchi M, Provera F, Siani A

机构信息

Divisione di Pediatria, Ospedale Civile di Sondrio, Italia.

出版信息

Pediatr Med Chir. 1990 Mar-Apr;12(2):175-81.

PMID:2235664
Abstract

Two cases of Dominant Polycystic Kidney Disease (DPKD) are reported in newborns of two different affected families. One of two infants was prenatally diagnosed by ultrasound, few cases of in utero diagnosis being previously reported. The two infants had different course: one had no symptoms (14 months now), on the contrary the other one had abdominal mass at birth and oliguria in the first 48 hours, then acute pyelonephritis at 15 months. The increasing incidence of DPKD diagnosed in infants and children by US screening in risk subjects is stressed and importance of precocious diagnosis for genetic counselling emphasized.

摘要

本文报告了两个不同患病家庭新生儿中的两例显性多囊肾病(DPKD)。两名婴儿中的一名通过超声进行了产前诊断,此前很少有子宫内诊断的病例报道。这两名婴儿病程不同:一名无症状(现14个月),相反,另一名出生时腹部有肿块,头48小时少尿,15个月时发生急性肾盂肾炎。强调了通过超声筛查高危人群中婴儿和儿童DPKD诊断率的上升,并强调了早熟诊断对遗传咨询的重要性。

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