Department of Paediatric Gastrointestinal Motility and Nutrition, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
Best Pract Res Clin Gastroenterol. 2011 Feb;25(1):73-88. doi: 10.1016/j.bpg.2010.12.005.
Constipation is a common problem in children but little is known about its exact pathophysiology. Environmental, behavioural but also genetic factors are thought to play a role in the aetiology of childhood constipation. We provide an overview of genetic studies performed in constipation. Until now, linkage studies, association studies and direct gene sequencing have failed to identify mutations in specific genes associated with constipation. We show that along with functional constipation, there are numerous clinical syndromes associated with childhood constipation. These syndromic forms of constipation appear to be the result of mutations in genes affecting all aspects of the normal physiology of human defecation. We stress that syndromic causes of childhood constipation should be considered in the evaluation of a constipated child.
便秘是儿童的常见问题，但对其确切的病理生理学知之甚少。环境、行为因素以及遗传因素被认为在儿童便秘的发病机制中起作用。我们提供了对便秘相关遗传研究的概述。到目前为止，连锁研究、关联研究和直接基因测序都未能确定与便秘相关的特定基因突变。我们表明，除了功能性便秘外，还有许多与儿童便秘相关的临床综合征。这些综合征形式的便秘似乎是影响人类正常排便生理各个方面的基因突变的结果。我们强调，在评估便秘儿童时应考虑儿童便秘的综合征原因。
