Title |
Early acute pancreatitis in a child with compound heterozygosis ∆F508/R1438W/Y1032C cystic fibrosis: a case report
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Published in |
Journal of Medical Case Reports, July 2013
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DOI | 10.1186/1752-1947-7-188 |
Pubmed ID | |
Authors |
Salvatore Leonardi, Andrea Domenico Praticò, Novella Rotolo, Giovanna Di Dio, Elena Lionetti, Mario La Rosa |
Abstract |
Recent studies suggest an important role of the cystic fibrosis transmembrane conductance regulator gene in the development of pancreatitis. It occurs approximately in 20% of patients with cystic fibrosis and almost exclusively in pancreatic sufficient people. Newborn screening and improved panels of deoxyribonucleic acid mutation analysis techniques are revealing more rare and nonclassical pictures of the disease, generally associated with pancreatic sufficiency and with an increased risk of developing pancreatitis. Mutations R1438 and Y1032 are considered rare mutations, and, when singularly associated with ∆F508, lead to a mild phenotype with pancreatic sufficiency and no detectable respiratory involvement. |
X Demographics
Geographical breakdown
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 19 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 4 | 21% |
Librarian | 2 | 11% |
Student > Bachelor | 2 | 11% |
Student > Ph. D. Student | 2 | 11% |
Researcher | 2 | 11% |
Other | 1 | 5% |
Unknown | 6 | 32% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 6 | 32% |
Biochemistry, Genetics and Molecular Biology | 3 | 16% |
Agricultural and Biological Sciences | 3 | 16% |
Immunology and Microbiology | 1 | 5% |
Nursing and Health Professions | 1 | 5% |
Other | 0 | 0% |
Unknown | 5 | 26% |