Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies
Roberto Berni Canani1, Giuseppe Castaldo2, Rosa Bacchetta3
1Department of Translational Medical Science, University of Naples Federico II, Via S. Pansini 5 80131, Naples, Italy.
Insights
Congenital diarrhoeal disorders (CDDs) are rare infant enteropathies causing severe diarrhea and dehydration. Advances in molecular diagnostics are improving understanding and treatment of these critical conditions.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Rare Diseases
Background:
- Congenital diarrhoeal disorders (CDDs) are rare chronic enteropathies typically presenting in early infancy.
- Severe chronic diarrhea is the hallmark, often leading to life-threatening dehydration and electrolyte imbalances within days of birth.
- These conditions necessitate immediate therapeutic intervention to prevent severe complications.
Purpose of the Study:
- To review the evolving landscape of congenital diarrhoeal disorders.
- To highlight the impact of recent genetic discoveries on diagnosis and understanding of CDDs.
- To discuss the implications for diagnostic and therapeutic strategies.
Main Methods:
- Literature review of congenital diarrhoeal disorders.
- Analysis of recent advancements in genetic identification and functional characterization.
- Synthesis of current knowledge on pathogenesis and clinical management.
Main Results:
- The number of well-characterized CDDs and associated genes has significantly increased.
- Molecular analysis has transformed diagnostics, reducing the need for invasive procedures.
- Progress in understanding pathogenesis offers insights into both rare and common gastrointestinal diseases.
Conclusions:
- Recent molecular advances have improved the diagnosis and understanding of CDDs.
- Genetic insights are paving the way for novel therapeutic approaches.
- Understanding CDDs contributes to broader knowledge of enteropathy mechanisms.
Abstract:
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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