Back to Search
Start Over
Hereditary pancreatitis in a young adult: Acute to chronic.
- Source :
-
Clinical biochemistry [Clin Biochem] 2021 Dec; Vol. 98, pp. 78-80. Date of Electronic Publication: 2021 Sep 13. - Publication Year :
- 2021
-
Abstract
- This report investigates an unusual case of recurrent pancreatitis. A 22-year-old female was admitted to the emergency room for severe abdominal pain, nausea, and weight loss. She reported having these symptoms since she was a toddler. The clinician ordered fecal pancreatic elastase-1, fat-soluble vitamins, molecular studies, and imaging of the pancreas by computed tomography. The screening test result for fecal pancreatic elastase-1 revealed severe pancreatic exocrine insufficiency, and the concentrations of fat-soluble vitamins were also low. Imaging showed scattered calcifications in the pancreas. These findings supported a diagnosis of chronic pancreatitis. Due to the rarity of chronic pancreatitis in young adults, molecular studies were performed. The patient was found to be homozygous for a mutation in the SPINK1 gene, which is associated with hereditary pancreatitis. This case report discusses hereditary pancreatitis and highlights data on the utilization of fecal pancreatic elastase-1 to assess pancreatic exocrine insufficiency.<br /> (Copyright © 2021 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Female
Genetic Diseases, Inborn diagnosis
Genetic Diseases, Inborn metabolism
Humans
Pancreatic Elastase genetics
Pancreatic Elastase metabolism
Pancreatitis, Chronic diagnosis
Pancreatitis, Chronic metabolism
Trypsin Inhibitor, Kazal Pancreatic metabolism
Young Adult
Genetic Diseases, Inborn genetics
Homozygote
Mutation
Pancreatitis, Chronic genetics
Trypsin Inhibitor, Kazal Pancreatic genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2933
- Volume :
- 98
- Database :
- MEDLINE
- Journal :
- Clinical biochemistry
- Publication Type :
- Academic Journal
- Accession number :
- 34529996
- Full Text :
- https://doi.org/10.1016/j.clinbiochem.2021.09.006