The diagnostics case of Familial Mediterranean fever occured under the chronic pancreatitis mask

dc.contributor.authorVasylieva, Oksana
dc.contributor.authorKatsapov, Dmytro
dc.date.accessioned2014-11-05T13:52:48Z
dc.date.available2014-11-05T13:52:48Z
dc.date.issued2014
dc.descriptionThe 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.uk_UA
dc.description.abstractFamilial 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.uk_UA
dc.identifier.citationVasylieva 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.uk_UA
dc.identifier.urihttps://repo.knmu.edu.ua/handle/123456789/7375
dc.language.isoenuk_UA
dc.subjectfeveruk_UA
dc.subjectmediterraneanuk_UA
dc.subjectmolecular genetic testinguk_UA
dc.titleThe diagnostics case of Familial Mediterranean fever occured under the chronic pancreatitis maskuk_UA
dc.typeThesesuk_UA

Files

Original bundle

Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
JIMD.pdf
Size:
2.92 MB
Format:
Adobe Portable Document Format

License bundle

Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
license.txt
Size:
6.52 KB
Format:
Item-specific license agreed upon to submission
Description: