학술논문
A familial Mediterranean fever girl due to MEFV N679H mutation with Gilbert's syndrome.
Document Type
Case Study
Source
Subject
*GENETIC disorder diagnosis
*GENETIC mutation
*INFLAMMATION
*CYTOSKELETAL proteins
*GILBERT disease
*TREATMENT effectiveness
*GENES
*COLCHICINE
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Language
ISSN
1328-8067
Abstract
The article presents a case study of a 17-year-old girl, the first pediatric case of Familial Mediterranean fever (FMF) due to MEFV novel missense mutation (N679H mutation in exon 10 with Gilbert's syndrome. Topics include the hospital because of complaints of chest and abdominal pain along with fever, and the experienced a short duration of menstrual attacks at 11 years of age and visited our hospital because of frequent attacks with additional symptoms of headache and vomiting.