Zhang Jing-Ru, Zhang Zhi-Bo
Department of Neonatal Surgery, Shengjing Hospital of China Medical University, Shenyang 110003, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2018 May;20(5):428-432. doi: 10.7499/j.issn.1008-8830.2018.05.017.
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome. Most syndromes have abnormal genetic material. An adequate knowledge of syndromic HSCR is of vital importance for accurate diagnosis and prognostic evaluation. This article reviews the clinical manifestations, genetic basis, and genetic modes of different types of syndromic HSCR.
先天性巨结肠症（HSCR）是儿童慢性不完全性肠梗阻的主要病因之一。HSCR被认为是一种神经嵴病，由于胚胎发育期间迷走神经细胞迁移异常终止，导致肠壁某些部位无神经节细胞定植。根据受累肠道的长度，这种疾病可分为不同类型。大多数HSCR患者表现为单一畸形，但有些HSCR患者会受到其他畸形影响，这构成了综合征性HSCR，如先天性中枢性低通气综合征、弗林斯综合征和软骨毛发发育不全综合征。大多数综合征都有异常的遗传物质。充分了解综合征性HSCR对于准确诊断和预后评估至关重要。本文综述了不同类型综合征性HSCR的临床表现、遗传基础和遗传模式。
