| Autor: |
Amna Basheer M. Ahmed, Badr M. Rasheed Alsaleem |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Case Reports in Gastroenterology, Vol 15, Iss 1, Pp 290-295 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1662-0631 |
| DOI: |
10.1159/000511761 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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