Association of Clinical and Genetic Features in Familial Mediterranean Fever Among Children from Central Anatolia, Turkey

Autor: Ahmet Sami Güven, Fatih Bolat, Ömer Cevit, Mehmet Burhan Oflaz, Fusun Dilara Icagasioglu, Ziynet Cinar, Fatma Duksal, Mehtap Kincir
Přispěvatelé: Kincir, M., Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey -- Duksal, F., Division of Pediatric Immunology and Allergy, Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey -- Cevit, O., Division of Pediatric Immunology and Allergy, Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey -- Bolat, F., Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey -- Guven, A.S., Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey -- Oflaz, M.B., Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey -- Icagasioglu, F.D., Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey -- Cınar, Z., Department of Biostatistics, Cumhuriyet School of Medicine, Cumhuriyet University, Sivas, Turkey, İÇAĞASIOĞLU, DİLARA FÜSUN
Jazyk: angličtina
Rok vydání: 2015
Předmět:
medicine.medical_specialty
Abdominal pain
Pathology
Henoch-Schonlein purpura
GeneralLiterature_INTRODUCTORYANDSURVEY
Arthritis
Familial Mediterranean fever
Gene mutation
Compound heterozygosity
Gastroenterology
GeneralLiterature_MISCELLANEOUS
Genetic
Internal medicine
ComputerApplications_MISCELLANEOUS
Genotype
medicine
Kincir M.
Duksal F.
Cevit O.
BOLAT F.
GÜVEN A. S.
OFLAZ M. B.
İÇAĞASIOĞLU F. D.
ÇINAR Z.
-Association of Clinical and Genetic Features in Familial Mediterranean Fever Among Children from Central Anatolia
Turkey-
Proceedings of the National Academy of Sciences India Section B - Biological Sciences
cilt.85
ss.793-800
2015
General Environmental Science
M694V mutation
business.industry
Amyloidosis
Gender
medicine.disease
ComputingMethodologies_DOCUMENTANDTEXTPROCESSING
medicine.symptom
InformationSystems_MISCELLANEOUS
General Agricultural and Biological Sciences
business
Popis: Springer India
The aim of the present study was to perform a genotype/phenotype and gender correlation in children in addition to investigate distribution and frequency of the Mediterranean fever gene mutations. Records of 700 children with familial Mediterranean fever living in Sivas-Central Anatolia were retrospectively reviewed. Most common clinical features were fever (100 %), abdominal pain (92.7 %), and arthritis (23.3 %). Mutations were detected in 66.7 % of patients. Simple heterozygous, compound heterozygous, and homozygous mutations were detected respectively 66.4, 8.6 and 25 % of patients. The most frequent mutations were M694V, E148Q, M680I (G/C), V726A, and A744S. The mean severity score was higher in homozygous M694V, in heterozygous M694V and in heterozygous E148Q mutations than in others. It was higher in girls than in boys. Arthritis and abdominal pain had a meaningful relation with M694V and E148Q mutations. Appendectomy and rare complications (oral aphthae, scrotal edema, Henoch Schönlein purpura, and amyloidosis) were significantly seen more in M694V and in E148Q than in other mutations. High acute phase reactant response was highest in M694V and in E148Q. Ten patients had amyloidosis and 4 of them had recurrent Henoch Schönlein purpura. This study showed that, in addition to patients with M694V mutations, patients with E148Q mutations also had a more severe clinical course. Apart from that, disease severity score was higher in girls than in boys and the co-existence of Henoch Schönlein purpura and familial Mediterranean fever is significant. © 2014, The National Academy of Sciences, India.
Duksal, F.; Division of Pediatric Immunology and Allergy, Department of Pediatrics, Cumhuriyet School of Medicine, Cumhuriyet UniversityTurkey
Databáze: OpenAIRE
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