Cargando…
Enteroendocrine Dysfunction in Two Saudi Sisters
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 th...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989775/ https://www.ncbi.nlm.nih.gov/pubmed/33790717 http://dx.doi.org/10.1159/000511761 |
_version_ | 1783668983770120192 |
---|---|
author | Ahmed, Amna Basheer M. Alsaleem, Badr M. Rasheed |
author_facet | Ahmed, Amna Basheer M. Alsaleem, Badr M. Rasheed |
author_sort | Ahmed, Amna Basheer M. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7989775 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-79897752021-03-30 Enteroendocrine Dysfunction in Two Saudi Sisters Ahmed, Amna Basheer M. Alsaleem, Badr M. Rasheed Case Rep Gastroenterol 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. S. Karger AG 2021-03-04 /pmc/articles/PMC7989775/ /pubmed/33790717 http://dx.doi.org/10.1159/000511761 Text en Copyright © 2021 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case Series Ahmed, Amna Basheer M. Alsaleem, Badr M. Rasheed Enteroendocrine Dysfunction in Two Saudi Sisters |
title | Enteroendocrine Dysfunction in Two Saudi Sisters |
title_full | Enteroendocrine Dysfunction in Two Saudi Sisters |
title_fullStr | Enteroendocrine Dysfunction in Two Saudi Sisters |
title_full_unstemmed | Enteroendocrine Dysfunction in Two Saudi Sisters |
title_short | Enteroendocrine Dysfunction in Two Saudi Sisters |
title_sort | enteroendocrine dysfunction in two saudi sisters |
topic | Case Series |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989775/ https://www.ncbi.nlm.nih.gov/pubmed/33790717 http://dx.doi.org/10.1159/000511761 |
work_keys_str_mv | AT ahmedamnabasheerm enteroendocrinedysfunctionintwosaudisisters AT alsaleembadrmrasheed enteroendocrinedysfunctionintwosaudisisters |