دورية أكاديمية
Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation
| العنوان: | Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation |
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| المؤلفون: | Janaki Patel, Arina Madan, Amanda Gammon, Michael Sossenheimer, Niloy Jewel Samadder |
| المصدر: | The Pan African Medical Journal, Vol 28, Iss 110 (2017) |
| بيانات النشر: | The Pan African Medical Journal, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | hereditary pancreatitis, spink1 mutation, atypical presentation, pancreatic malignancy, Medicine |
| الوصف: | Hereditary chronic pancreatitis associated with a mutation in the serine protease inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation results in trypsinogen activation which predisposes to chronic pancreatitis predominately when combined with CFTR gene mutations. It presents as either chronic or recurrent acute pancreatitis. Symptom control and management of complications is important. Active surveillance with cross-sectional imaging for pancreatic malignancy in individuals with hereditary pancreatitis is advocated due to individuals being high risk. We present an unusual case of a young male who initially presented with renal colic and was incidentally diagnosed with severe chronic pancreatitis on abdominal imaging, with genetic testing confirming a homozygous SPINK1 mutation. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English French |
| تدمد: | 1937-8688 |
| Relation: | https://www.panafrican-med-journal.com/content/article/28/110/pdf/110.pdf; https://doaj.org/toc/1937-8688 |
| DOI: | 10.11604/pamj.2017.28.110.13854 |
| URL الوصول: | https://doaj.org/article/a2ae91b88f8d4042a41f4e3d0fb505b1 |
| رقم الأكسشن: | edsdoj.2ae91b88f8d4042a41f4e3d0fb505b1 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 19378688 |
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| DOI: | 10.11604/pamj.2017.28.110.13854 |