Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey

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dc.contributor.authorKalem, Hülya
dc.contributor.authorkayhan tetik, Burcu
dc.contributor.authorElmas, Ahmet Taner
dc.contributor.authorSelçuk, Engin Burak
dc.contributor.authorTabel, Yılmaz
dc.date.accessioned2021-10-27T09:36:32Z
dc.date.available2021-10-27T09:36:32Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractAbstract: Objective: Familial Mediterranean fever (FMF) is a hereditary disease. It usually affects countries in the Mediterranean region and is common in Turks. This retrospective study was conducted to evaluate phenotype-genotype characteristics of children with FMF in Malatya district and surrounding areas in eastern Turkey. Materials and methods: A total of 427 patients who had been diagnosed with clinical FMF between 2006 and 2015 were included in the study. Results: Of the patients, 207 (48.5%) were female, and 220 (51.5%) were male. The mean age of diagnosis was 7.7±3.7 years, and the age of onset of complaints was 5.7±3.5 years. The delay of diagnosis was 1.9±1.8 years. The most common complaint was abdominal pain (95.1%). The most commonly detected mutant allele was M694V (26.9%) mutation. We detected heterozygous mutations in 203 (52%) patients, homozygous mutations in 71 (18%) patients, compound heterozygous mutations in 81 (22%) patients, and no mutation in 8% of the patients. The most common homozygous mutation was M694V (57.7%), the most common heterozygous mutation was E148Q (38.4%), and the most common compound heterozygous mutation was M694V/M680I (17.1%). Conclusion: In our study, we found that the frequency of mutations was similar to that of the whole population of Turkey, and the severity of the disease was lower.en_US
dc.identifier.citationKALEM H,TETİK B. K,TABEL Y,SELÇUK E. B,ELMAS A. T (2019). Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey. Turkish journal of nephrology (Online), 28(1), 68 - 74. Doi: 10.5152/turkjnephrol.2019.3157en_US
dc.identifier.doi10.5152/turkjnephrol.2019.3157en_US
dc.identifier.endpage74en_US
dc.identifier.issn2667-4440
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85088152558en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage68en_US
dc.identifier.trdizinid351379en_US
dc.identifier.urihttps://doi.org/10.5152/turkjnephrol.2019.3157
dc.identifier.urihttps://hdl.handle.net/11616/42534
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/351379
dc.identifier.volume28en_US
dc.identifier.wosWOS:000461206800014en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofTurkish journal of nephrology (Online)en_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleEvaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkeyen_US
dc.typeArticleen_US

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