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CHRONIC INTESTINAL CONSTIPATION OF ATYPICAL ETIOLOGY IN PRESCHOOL CHILD
  • +3
  • Camila Fachin,
  • Carlos Riedi,
  • Tarick Salim Ali,
  • Milena Conceição,
  • Miguel Angelo Agulham,
  • Andre Dias
Camila Fachin
Federal University of Parana
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Carlos Riedi
Federal University Parana
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Tarick Salim Ali
Federal University of Parana
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Milena Conceição
Federal University of Parana
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Miguel Angelo Agulham
Federal University of Parana
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Andre Dias
Federal University of Parana
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Abstract

There is a large spectrum of abnormalities in the CFTR gene that leads to a partial function of the chloride channel and, thereby, an uncommon presentation of the disease, the “CFTR-related diseases”. This report aims to present a case of a patient with a single gene mutation related to cystic fibrosis, with an unusual clinical presentation among CFTR related diseases - chronic intestinal constipation. This patient is not a cystic fibrosis patient because he does not fulfil the disease’s classic criteria. Furthermore, since the mutation found is not yet described in the literature, it could be related to CFTR-related disease.