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• W2083116854 abstract "Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. The number of well-characterized disorders attributed to CDDs has gradually increased over the past few years and this Review highlights new CDD entities and advances understanding of functionally related genes that are opening new diagnostic and therapeutic perspectives. 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." @default.
• W2083116854 created "2016-06-24" @default.
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• W2083116854 date "2015-03-17" @default.
• W2083116854 modified "2023-10-10" @default.
• W2083116854 title "Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies" @default.
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• W2083116854 doi "https://doi.org/10.1038/nrgastro.2015.44" @default.
• W2083116854 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7599016" @default.
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