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- Title
Enteroendocrine Dysfunction in Two Saudi Sisters.
- Authors
Ahmed, Amna Basheer M.; Alsaleem, Badr M. Rasheed
- Abstract
Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in the literature; we have add two female sisters with some difference in clinical progress. Herein, we describe two sisters with congenital osmotic diarrhea diagnosed with PC1/3 deficiency, causing malabsorptive diarrhea and enteroendocrine dysfunction, who presented with chronic enteropathy with hypernatremia but with different expressivity. PC1/3 deficiency presents with symptoms and signs that mimic glucose-galactose malabsorption. Because of the clinical paucity and heterogeneity of congenital enteropathies, whole-exome sequencing may be of great help towards early diagnosis and effective treatment.
- Subjects
SYMPTOMS; SISTERS; SUBTILISINS; SAUDI Arabians; DIARRHEA; INTESTINAL diseases
- Publication
Case Reports in Gastroenterology, 2021, Vol 15, Issue 1, p290
- ISSN
1662-0631
- Publication type
Article
- DOI
10.1159/000511761