Sgro M, Rossetti S, Barozzino T, Toi A, Langer J, Harris P C, Harvey E, Chitayat D
Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Ultrasound Obstet Gynecol. 2004 Jan;23(1):73-6. doi: 10.1002/uog.943.
Caroli's disease is a rare autosomal recessive condition characterized by cystic dilatation of the intrahepatic bile ducts and infantile polycystic kidney disease. We report a case with Caroli's disease detected prenatally at 33 weeks' gestation with fetal ultrasound findings of a cystic liver mass and echogenic kidneys. Postnatal investigation confirmed enlarged and echogenic kidneys with dilatation of the intrahepatic bile ducts consistent with the diagnosis of Caroli's disease. Genetic analysis of the gene, PKHD1, associated with autosomal recessive polycystic kidney disease (ARPKD) showed that the patient had compound heterozygous mutations, confirming that this early onset Caroli's disease was part of the spectrum of ARPKD. To our knowledge this is the third case of Caroli's disease detected prenatally and the first in which the infant survived.
卡罗里病是一种罕见的常染色体隐性疾病，其特征为肝内胆管的囊性扩张和婴儿型多囊肾病。我们报告一例在妊娠33周时通过胎儿超声检查产前诊断为卡罗里病的病例，超声检查发现胎儿有肝脏囊性肿块和肾回声增强。产后检查证实肾脏增大且回声增强，肝内胆管扩张，符合卡罗里病的诊断。对与常染色体隐性多囊肾病（ARPKD）相关的PKHD1基因进行基因分析显示，该患者存在复合杂合突变，证实这种早发型卡罗里病是ARPKD谱系的一部分。据我们所知，这是第三例产前诊断为卡罗里病的病例，也是首例婴儿存活的病例。
