Hahn Jong Woo, Moon Soo Young, Kim Min Soo, Woo Min Hyung, Sohn Min Ji, Kim Hyun-Young, Seong Moon-Woo, Park Sung Sup, Park Sung-Hye, Moon Jin Soo, Ko Jae Sung
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Department of Surgery, Seoul National University College of Medicine, Seoul, Korea.
J Neurogastroenterol Motil. 2022 Jan 30;28(1):104-110. doi: 10.5056/jnm20243.
BACKGROUND/AIMS: Chronic intestinal pseudo-obstruction (CIPO) is a clinically heterogeneous syndrome characterized by compromised peristalsis and intestinal obstruction. Variants of actin gamma 2 (), a protein crucial for correct enteric muscle contraction, have been found in CIPO patients. The aim of this study is to examine the clinical features and variants in Korean patients with CIPO.
From January 1995 to August 2020, 12 patients diagnosed with CIPO were included and genetic analysis testing of was performed.
Heterozygous missense variants were found in 6 patients (50.0%). The p.Arg257Cys variant was found in 3 patients, and p.Arg63Gln and p.Arg178His variants were found in 1 patient each. A novel variant, p.Ile193Phe, was found in 1 patient. Three patients were diagnosed at birth, 2 at the age of 1 year, and 1 at 3 years of age. Abnormal prenatal genitourinary ultrasonographic findings were found in all 6 patients; microcolon was found in 4 patients (66.7%), and megacystis in all 6 patients. The pathology showed abnormal ganglion cells as well as myopathic findings. All patients are dependent on total parenteral nutrition and are to date alive.
variants are commonly found in Korean patients with CIPO. In CIPO patients with megacystis and abnormal prenatal ultrasonography, genetic testing of should be considered. Molecular diagnosis of CIPO is more important than pathologic diagnosis.
背景/目的：慢性假性肠梗阻（CIPO）是一种临床异质性综合征，其特征为蠕动功能受损和肠梗阻。在CIPO患者中发现了肌动蛋白γ2（）的变体，该蛋白对正确的肠道肌肉收缩至关重要。本研究的目的是检查韩国CIPO患者的临床特征和变体。
纳入1995年1月至2020年8月期间诊断为CIPO的12例患者，并进行了的基因分析检测。
6例患者（50.0%）发现杂合错义变体。3例患者发现p.Arg257Cys变体，1例患者分别发现p.Arg63Gln和p.Arg178His变体。1例患者发现一种新变体p.Ile193Phe。3例患者在出生时被诊断，2例在1岁时被诊断，1例在3岁时被诊断。所有6例患者产前泌尿生殖系统超声检查均有异常发现；4例患者（66.7%）发现小结肠，所有6例患者均发现巨膀胱。病理显示神经节细胞异常以及肌病表现。所有患者均依赖全胃肠外营养，至今仍存活。
在韩国CIPO患者中常见变体。对于有巨膀胱和产前超声异常的CIPO患者，应考虑进行的基因检测。CIPO分子诊断比病理诊断更重要。
