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Abstract：
OBJECTIVE: The purpose of this review is to discuss current knowledge on pediatric intestinal pseudo-obstruction. We will also review new mutations that have been identified through advancement in genetic testing, allowing for a better understanding of the underlying mechanisms of intestinal dysmotility and potential etiologies.
RESULTS: With the advancements in genetic testing, new mutations have been identified in the diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a disorder leading to pediatric pseudo-obstruction. MYLK, LMOD1, MYL9, and MYH11 encode for various proteins within smooth muscle cells; abnormalities within these proteins lead to abnormal intestinal smooth muscle contractions. Chronic intestinal pseudo-obstruction (CIPO) is defined by symptoms of bowel obstruction in the absence of a lumen-occluding lesion. CIPO is a heterogeneous group of disorders caused by abnormalities in the enteric neurons, intestinal smooth muscle, and/or the interstitial cells of Cajal (ICC). Symptoms can be non-specific and etiologies include both primary and secondary causes of CIPO that contribute to the delay in recognizing this condition and making the correct diagnosis. Chronic intestinal pseudo-obstruction has been recognized in both adults and children with fundamental differences in the etiology, symptom onset, clinical features and natural history of this disorder. For this reason, it has been considered a separate entity referred to as pediatric intestinal pseudo-obstruction (PIPO).
RESULTS: With the advancements in genetic testing, new mutations have been identified in the diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a disorder leading to pediatric pseudo-obstruction. MYLK, LMOD1, MYL9, and MYH11 encode for various proteins within smooth muscle cells; abnormalities within these proteins lead to abnormal intestinal smooth muscle contractions. Chronic intestinal pseudo-obstruction (CIPO) is defined by symptoms of bowel obstruction in the absence of a lumen-occluding lesion. CIPO is a heterogeneous group of disorders caused by abnormalities in the enteric neurons, intestinal smooth muscle, and/or the interstitial cells of Cajal (ICC). Symptoms can be non-specific and etiologies include both primary and secondary causes of CIPO that contribute to the delay in recognizing this condition and making the correct diagnosis. Chronic intestinal pseudo-obstruction has been recognized in both adults and children with fundamental differences in the etiology, symptom onset, clinical features and natural history of this disorder. For this reason, it has been considered a separate entity referred to as pediatric intestinal pseudo-obstruction (PIPO).
摘要：
目的：这篇综述的目的是讨论目前对小儿假性肠梗阻的认识。我们还将回顾通过基因检测的进步而发现的新突变，允许更好地了解肠道动力障碍和潜在病因的潜在机制。
结果：随着基因检测的进步，在巨细胞-微结肠-肠蠕动综合征（MMIHS）的诊断中发现了新的突变，导致小儿假性梗阻的疾病。MYLK,LMOD1、MYL9和MYH11编码平滑肌细胞内的各种蛋白质;这些蛋白质内的异常导致异常的肠平滑肌收缩。慢性假性肠梗阻（CIPO）是由没有管腔阻塞病变的肠梗阻症状定义的。CIPO是一组由肠道神经元异常引起的异质性疾病，肠平滑肌，和/或Cajal间质细胞(ICC)。症状可以是非特异性的，病因包括CIPO的主要和次要原因，这有助于延迟识别这种情况并做出正确的诊断。慢性假性肠梗阻已在成人和儿童中得到认可，在病因上存在根本差异。症状发作,这种疾病的临床特征和自然史。出于这个原因,它被认为是一个单独的实体，称为小儿假性肠梗阻（PIPO）。
结果：随着基因检测的进步，在巨细胞-微结肠-肠蠕动综合征（MMIHS）的诊断中发现了新的突变，导致小儿假性梗阻的疾病。MYLK,LMOD1、MYL9和MYH11编码平滑肌细胞内的各种蛋白质;这些蛋白质内的异常导致异常的肠平滑肌收缩。慢性假性肠梗阻（CIPO）是由没有管腔阻塞病变的肠梗阻症状定义的。CIPO是一组由肠道神经元异常引起的异质性疾病，肠平滑肌，和/或Cajal间质细胞(ICC)。症状可以是非特异性的，病因包括CIPO的主要和次要原因，这有助于延迟识别这种情况并做出正确的诊断。慢性假性肠梗阻已在成人和儿童中得到认可，在病因上存在根本差异。症状发作,这种疾病的临床特征和自然史。出于这个原因,它被认为是一个单独的实体，称为小儿假性肠梗阻（PIPO）。
