Abstract：
OBJECTIVE: Chronic intestinal pseudo-obstruction (CIPO) is a clinically heterogeneous syndrome characterized by compromised peristalsis and intestinal obstruction. Variants of actin gamma 2 (ACTG2), 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 ACTG2 variants in Korean patients with CIPO.
METHODS: From January 1995 to August 2020, 12 patients diagnosed with CIPO were included and genetic analysis testing of ACTG2 was performed.
RESULTS: Heterozygous ACTG2 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.
CONCLUSIONS: ACTG2 variants are commonly found in Korean patients with CIPO. In CIPO patients with megacystis and abnormal prenatal ultrasonography, genetic testing of ACTG2 should be considered. Molecular diagnosis of CIPO is more important than pathologic diagnosis.
METHODS: From January 1995 to August 2020, 12 patients diagnosed with CIPO were included and genetic analysis testing of ACTG2 was performed.
RESULTS: Heterozygous ACTG2 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.
CONCLUSIONS: ACTG2 variants are commonly found in Korean patients with CIPO. In CIPO patients with megacystis and abnormal prenatal ultrasonography, genetic testing of ACTG2 should be considered. Molecular diagnosis of CIPO is more important than pathologic diagnosis.
摘要：
目的：慢性假性肠梗阻（CIPO）是一种临床异质性综合征，其特征是蠕动受损和肠梗阻。肌动蛋白γ2（ACTG2）的变体，一种对正确的肠肌肉收缩至关重要的蛋白质，已在CIPO患者中发现。这项研究的目的是检查韩国CIPO患者的临床特征和ACTG2变异。
方法：从1995年1月至2020年8月，纳入12例诊断为CIPO的患者，并进行ACTG2基因分析检测。
结果：在6例患者中发现了杂合的ACTG2错义变体（50.0％）。在3例患者中发现p.Arg257Cys变异，p.Arg63Gln和p.Arg178His变异体在1例患者中发现。一种新颖的变体，p.Ile193Phe,在1名患者中发现。三名患者在出生时被诊断出，1岁时2岁，3岁时1。产前泌尿生殖道超声检查结果异常6例,微结肠4例(66.7%),和所有6名患者的巨膀胱。病理显示神经节细胞异常以及肌病发现。所有患者都依赖于全胃肠外营养，并且迄今为止还活着。
结论：ACTG2变异常见于韩国CIPO患者。InCIPO患者巨大囊肿和产前超声检查异常，应考虑对ACTG2进行基因检测.CIPO的分子诊断比病理诊断更重要。
方法：从1995年1月至2020年8月，纳入12例诊断为CIPO的患者，并进行ACTG2基因分析检测。
结果：在6例患者中发现了杂合的ACTG2错义变体（50.0％）。在3例患者中发现p.Arg257Cys变异，p.Arg63Gln和p.Arg178His变异体在1例患者中发现。一种新颖的变体，p.Ile193Phe,在1名患者中发现。三名患者在出生时被诊断出，1岁时2岁，3岁时1。产前泌尿生殖道超声检查结果异常6例,微结肠4例(66.7%),和所有6名患者的巨膀胱。病理显示神经节细胞异常以及肌病发现。所有患者都依赖于全胃肠外营养，并且迄今为止还活着。
结论：ACTG2变异常见于韩国CIPO患者。InCIPO患者巨大囊肿和产前超声检查异常，应考虑对ACTG2进行基因检测.CIPO的分子诊断比病理诊断更重要。
