| Autor: |
Badr M. Rasheed Alsaleem, Amna Basheer M. Ahmed, Musa Ahmad Fageeh |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
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| Zdroj: |
Case Reports in Gastroenterology, Vol 11, Iss 3, Pp 647-651 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
1662-0631 |
| DOI: |
10.1159/000479624 |
| Popis: |
Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Saudi infant who presented shortly after birth with severe vomiting, metabolic acidosis, and mild diarrhea. Electron microscopy study for small intestinal biopsy was consistent with MVID. MYO5B gene mutation was excluded; subsequently, whole exome sequencing (WES) was performed, which revealed homozygous gene mutation in STX3. Using WES in clinical environment can be a useful tool for diagnosing difficult and rare inherited congenital enteropathies. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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