儿童Caroli's综合征

Caroli's syndrome

摘要:

目的：Caroli's综合征是一种罕见的常染色体隐性遗传病。该文报道1例儿童Caroli's综合征合并髓质海绵肾病例。此病例为幼年男性患儿，以发现肝脾大入院，无发热、腹痛、黄疸等症状，影像学检查显示典型肝内胆管囊性扩张及脾大，伴有髓质海绵肾及双肾弥漫钙质沉积。结合此病例，介绍了Caroli's综合征的临床特点、诊断和治疗方面的最新进展。［中国当代儿科杂志，2009，11（1）：10-14］

Abstract:

OBJECTIVE: Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.［Chin J Contemp Pediatr, 2009, 11 (1):10-14］