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http://repo.knmu.edu.ua/handle/123456789/7375| Title: | The diagnostics case of Familial Mediterranean fever occured under the chronic pancreatitis mask |
| Authors: | Vasylieva, Oksana Katsapov, Dmytro |
| Keywords: | fever mediterranean molecular genetic testing |
| Issue Date: | 2014 |
| Citation: | Vasylieva O. V. The diagnostics case of Familial Mediterranean fever occured under the chronic pancreatitis mask / O. V. Vasylieva, D. V. Katsapov // Journal of Inherited Metabolic Disease. – 2014. – Vol. 37, suppl. 1 : Annual Sympozium for the Stady of Inbirn Errors of Metabolist, Innsbruck, Austria, 2–5 September, 2014. – P. 184–185. |
| Abstract: | Familial Mediterranean fever (FMF) is the most common hereditary periodic fever syndrome, which affecting populations of Mediterranean origin (Arabs, Turks, Jews, Lebanese, Greeks, etc.). The frequency of heterozygous carriers of MEFV, responsible for the development of FMF, is more than 1/5 of the total population. |
| Description: | The patient is heterozygote compaund for the mutations M694I and M694V in exon 10 MEFV. FMF was diagnosed in this case, which was occuring with symptoms of chronic pancreatitis. It is known that the severity of clinical signs can be decreased in heterozygous carriers of mutant alleles. However, given the possibility of FMF-associated amyloidosis, rheumatologist clinical supervision and control of serum amyloid were recommended. |
| URI: | https://repo.knmu.edu.ua/handle/123456789/7375 |
| Appears in Collections: | Наукові праці. Кафедра фізіології |
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