Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells (Q100075): Difference between revisions
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Este novo tipo de diarreia congênita malabsortiva é caracterizado por má absorção generalizada e escassez de células enteroendócrinas. Os pacientes se apresentam durante as primeiras semanas de vida com vômitos, diarreia, desidratação e acidose metabólica hiperclorêmica grave após a ingestão de fórmula padrão à base de leite de vaca. Também foi associado a diabetes tipo 1 durante a infância. Este fenótipo é causado por mutações de perda de função no gene NEUROG3, que codifica a neurogenina 3, uma proteína implicada no desenvolvimento de células endócrinas entéricas e pancreáticas. | |||||||||||||||
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This new type of congenital malabsorptive diarrhoea is characterised by a generalised malabsorption and a paucity of enteroendocrine cells. Patients presented during the first weeks of life with vomiting, diarrhoea, dehydration, and a severe hyperchloremic metabolic acidosis after the ingestion of standard cow's milk-based formula. It was also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/302560695 / rank | |||||||||||||||
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CID11:ID_302560695 | |||||||||||||||
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dki-india-ID_302560695 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 16:45, 16 August 2026
This new type of congenital malabsorptive diarrhoea is characterised by a generalised malabsorption and a paucity of enteroendocrine cells. Patients presented during the first weeks of life with vomiting, diarrhoea, dehydration, and a severe hyperchloremic metabolic acidosis after the ingestion of standard cow's milk-based formula. It was also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development.
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| default for all languages | ID_302560695 |
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| English | Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells |
This new type of congenital malabsorptive diarrhoea is characterised by a generalised malabsorption and a paucity of enteroendocrine cells. Patients presented during the first weeks of life with vomiting, diarrhoea, dehydration, and a severe hyperchloremic metabolic acidosis after the ingestion of standard cow's milk-based formula. It was also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. |
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CID11:ID_302560695
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dki-india-ID_302560695
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Concluído
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15 August 2026
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