Jung Jo Eun, Hur Jin Ho, Jung Mo Kyung, Kwon Ahreum, Chae Hyun Wook, Kim Duk Hee, Kim Ho-Seong
Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Department of Pediatrics, Sowha Children's Hospital, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):125-128. doi: 10.6065/apem.2017.22.2.125. Epub 2017 Jun 28.
Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.
内脏异位综合征(HS)是一种先天性疾病,由胚胎期内脏器官在正常左右轴上的异常排列所致。HS通常与多种异常相关,包括主要心血管系统和心血管外系统的缺陷,如肠旋转不良、肺叶异常、支气管异常和胰腺发育异常。虽然胰腺发育异常偶尔与HS伴发,但HS中因胰腺发育异常导致糖尿病(DM)的情况鲜有报道。我们在此报告一例13岁女孩,其因背侧胰腺发育不全导致DM,并根据存在双出口右心室伴双侧肺动脉狭窄以及肠旋转不良伴十二指肠囊肿而诊断为HS。及时使用胰岛素进行诊断和治疗改善了血糖控制。