Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.
Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.
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DOI：
10.1038/nrgastro.2015.44
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发表时间：
2015-05
期刊：
影响因子：
--
通讯作者：
Goulet O
中科院分区：
文献类型：
--
作者：
Canani RB;Castaldo G;Bacchetta R;Martín MG;Goulet O
先天性肠道疾病（CDDs）是一种罕见的慢性肠病，典型的发病年龄在生命早期。在其中许多情况下，严重慢性腹泻是主要临床表现，而在其他情况下，腹泻只是更复杂的多器官或全身性疾病的一个组成部分。通常，在生命的最初几天内，腹泻会导致严重脱水和血清电解质异常，从而危及生命。因此，在绝大多数情况下，必须立即开始适当的治疗，以防止脱水和长期，有时严重的并发症。在过去几年中，归因于CDDs的特征性疾病的数量逐渐增加，并且已经鉴定了许多新的基因，这些基因在功能上与CDDs相关，从而开辟了新的诊断和治疗前景。分子分析改变了CDDs的诊断方案，并减少了侵入性和昂贵的程序。在发病机制方面取得了重大进展，不仅使人们能够更好地了解这些罕见的疾病，而且还能更好地了解更常见的疾病机制。
Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. In many of these conditions, severe chronic diarrhoea represents the primary clinical manifestation, whereas in others diarrhoea is only a component of a more complex multi-organ or systemic disorder. Typically, within the first days of life, diarrhoea leads to a life-threatening condition highlighted by severe dehydration and serum electrolyte abnormalities. Thus, in the vast majority of cases appropriate therapy must be started immediately to prevent dehydration and long-term, sometimes severe, complications. The number of well-characterized disorders attributed to CDDs has gradually increased over the past several years, and many new genes have been identified and functionally related to CDDs, opening new diagnostic and therapeutic perspectives. Molecular analysis has changed the diagnostic scenario in CDDs, and led to a reduction in invasive and expensive procedures. Major advances have been made in terms of pathogenesis, enabling a better understanding not only of these rare conditions but also of more common diseases mechanisms.
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