
Enteroendocrine Dysfunction in Two Saudi Sisters
Author(s) -
Ahmed Amna Basheer M.,
Alsaleem Badr M. Rasheed
Publication year - 2021
Publication title -
case reports in gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
ISSN - 1662-0631
DOI - 10.1159/000511761
Subject(s) - case series
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.