Aksaray University Journal of Sport and Health Researches
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The Known About Familial Mediterranean Fever: Literature Review

Year 2022, Volume: 3 Issue: 2, 145 - 155, 29.12.2022

Huseyin ERDAL Recep ERÖZ

Abstract

The most common hereditary autoinflammatory disease is Familial Mediterranean Fever (FMF). Generally, FMF consists of acquiring function mutations of the MEFV gene, which is an auxiliary protein in immune regulation. In recent years, important advances have been seen in the diagnosis of FMF, genetic tests and treatment practices, together with the developing technological developments. In particular, new generation sequencing applications have led to the emergence of clinically important gene variants. Although FMF is clinically seen as a disease characterized by short attacks, studies have shown its relationship with a chronic inflammatory state. In the treatment of FMF, early diagnosis and positive response to treatment are very important in the recovery process of patients. In recent years, research on FMF has been increasing. In this review, it is aimed to evaluate the recent studies on FMF and the findings obtained.

Keywords

MEFV, Familial Mediterranean Fever, , FMF

References

  • Barut, K., Sahin, S., Adrovic, A., Sinoplu, A. B., Yucel, G., Pamuk, G., . . . Kasapcopur, O. (2018). Familial Mediterranean fever in childhood: a single-center experience. Rheumatol Int, 38(1), 67-74. doi: 10.1007/s00296-017-3796-0
  • Baykal, Y., Saglam, K., Yilmaz, M. I., Taslipinar, A., Akinci, S. B., & Inal, A. (2003). Serum sIL-2r, IL-6, IL-10 and TNF-alpha level in familial Mediterranean fever patients. Clin Rheumatol, 22(2), 99-101. doi: 10.1007/s10067-002-0682-1
  • Ben-Chetrit, E., & Touitou, I. (2009). Familial mediterranean Fever in the world. Arthritis Rheum, 61(10), 1447-1453. doi: 10.1002/art.24458
  • Bestas, A., Bolu, S., Unal, E., Aktar Karakaya, A., Eroz, R., Tekin, M., & Haspolat, Y. K. (2022). A rare cause of delayed puberty and primary amenorrhea: 17alpha-hydroxylase enzyme deficiency. Endocrine, 75(3), 927-933. doi: 10.1007/s12020-021-02914-8
  • Bolu, S., Eroz, R., Dogan, M., Arslanoglu, I., & Dundar, I. (2020). Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young. Indian Pediatr, 57(11), 1037-1039.
  • Bolu, S., Eroz, R., Dogan, M., Arslanoglu, I., Uzun, H., & Timur, F. (2020). A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus. Turk Pediatri Ars, 55(4), 434-437. doi: 10.14744/TurkPediatriArs.2019.05882
  • Buermans, H. P., & den Dunnen, J. T. (2014). Next generation sequencing technology: Advances and applications. Biochim Biophys Acta, 1842(10), 1932-1941. doi: 10.1016/j.bbadis.2014.06.015
  • Cakirca G, C. M., Erdal H, Neselioglu S, Erel O, Basarali MK, Cakirca TD. . (2018). Investigation of thiol/disulfide homeostasis in familial mediterranean fever patients. Clin Anal Med, 9(3), 231-234. doi: 10.4328/JCAM.5789
  • Cerquaglia, C., Diaco, M., Nucera, G., La Regina, M., Montalto, M., & Manna, R. (2005). Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: an update. Curr Drug Targets Inflamm Allergy, 4(1), 117-124. doi: 10.2174/1568010053622984
  • Damar, I. H., & Eroz, R. (2019). Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk. Medeni Med J, 34(4), 374-379. doi: 10.5222/MMJ.2019.93357
  • Damar, I. H., & Eroz, R. (2021). Do all Familial Mediterranean Fever (FMF) patients with recurrent chest pain have cardiac problems? KUWAIT MEDICAL JOURNAL, 53(2), 131-135.
  • Dogan, M., Eroz, R., Bolu, S., Yuce, H., Gezdirici, A., Arslanoglu, I., & Terali, K. (2022). Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel. Mol Biol Rep, 49(8), 7483-7495. doi: 10.1007/s11033-022-07552-5
  • Dogan, M., Eroz, R., & Ozturk, E. (2021). Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene. Ophthalmic Genet, 42(3), 276-282. doi: 10.1080/13816810.2021.1894461
  • Dogan, M., Eroz, R., Tecellioglu, M., Gezdirici, A., Cevik, B., & Baris, I. (2022). Clinical and Molecular Findings in a Turkish Family Who Had a (c.869- 1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis. Curr Alzheimer Res, 19(3), 223-235. doi: 10.2174/1567205019666220414101251
  • Dogan, M., Eroz, R., Terali, K., Gezdirici, A., & Bolu, S. (2021). Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. Mol Biol Rep, 48(2), 1465-1474. doi: 10.1007/s11033-021-06158-7
  • DOĞAN, M., KOCABAY, K., Emrah, G., ÖZMERDİVENLİ, R., & Recep, E. (2016). MEFV GENİNDE S288Y (P. SER863TYR, C. 863 C> A) MUTASYONU VE KLİNİĞİNİN ARAŞTIRILMASI. Duzce Medical Journal, 18(2), 66-68.
  • DOĞAN, M., KOCABAY, K., Emrah, G. Ü. N., ÖZMERDİVENLİ, R., & Recep, E. R. Ö. Z.. (2016). MEFV GENİNDE S288Y (P. SER863TYR, C. 863 C> A) MUTASYONU VE KLİNİĞİNİN ARAŞTIRILMASI. Duzce Medical Journal, 18(2), 66-68.
  • DOĞAN, M., Recep, E. R. Ö. Z., Hüseyin, Y. Ü. C. E., & ÖZMERDİVENLİ, R. . (2017). Yeni Nesil Dizileme (YND) Hakkında Bilinenler (Literatür Taraması). Duzce Medical Journal, 19(1), 27-30.
  • Dundar, M., Fahrioglu, U., Yildiz, S. H., Bakir-Gungor, B., Temel, S. G., Akin, H., . . . National Genetics Consortium, S. (2022). Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. Funct Integr Genomics, 22(3), 291-315. doi: 10.1007/s10142-021-00819-3
  • El-Shanti, H., Majeed, H. A., & El-Khateeb, M. (2006). Familial mediterranean fever in Arabs. Lancet, 367(9515), 1016-1024. doi: 10.1016/S0140-6736(06)68430-4
  • El Hasbani, G., Jawad, A., & Uthman, I. (2019). Update on the management of colchicine resistant Familial Mediterranean Fever (FMF). Orphanet J Rare Dis, 14(1), 224. doi: 10.1186/s13023-019-1201-7
  • Erdal, H., Ciftciler, R., Tuncer, S. C., & Ozcan, O. (2022). Evaluation of dynamic thiol-disulfide homeostasis and ischemia-modified albumin levels in patients with chronic lymphocytic leukemia. J Investig Med. doi: 10.1136/jim-2022-002568
  • Eroz, R., Damar, I. H., & Kilicaslan, O. (2020). Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant. Blood Coagul Fibrinolysis, 31(4), 264-269. doi: 10.1097/MBC.0000000000000911
  • Eroz, R., Dogan, M., & Kocabay, K. (2016). A Novel Mutation K447m (P.Lys447met, C.1340 a>T) Identified in Exon 4 of the Mefv Gene. Genet Couns, 27(4), 525-528.
  • Eroz, R., Doğan, M., & Yuce, H. A Novel Deletion Mutation 334-335 DelG (P. Glu112fs, C. 334-335delg) Identified In Exon 2 Of The MEFV Gene Associated With Familial Mediterranean Fever. Paper presented at the Congress abstract.
  • Eroz, R., Yuce, H., & Koksal, M. (2019). A family with rare E167D mutation from Turkey with a total of four members clinically diagnosed as FMF. Erciyes Medical Journal, 41(S1), 49-51.
  • ERÖZ, R., DOĞAN, M., YÜCE, H., KOCABAY, K., & YÜKSEL, E. (2016). A Turkish Family with A89T (p. Ala89Thr, c. 265G> A) Mutation on The MEFV Gene, Their Clinical Findings and Review of The Literature. Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi, 30(2), 67-70.
  • Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. (2005). Medicine (Baltimore), 84(1), 1-11. doi: 10.1097/01.md.0000152370.84628.0c
  • Gezdirici, A., Terali, K., Gulec, E. Y., Bornaun, H., Dogan, M., & Eroz, R. (2021). An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants. J Hum Genet, 66(7), 647-657. doi: 10.1038/s10038-021-00899-w
  • ibrahim Halil Damar, R. E. (2019). Yeni ve Nadir Mutasyonlu FMF Hastalarında Kardiyak Tutulum. Konuralp Tıp Dergisi, 11(2), 274-277. Karagun, E., Eroz, R., Gamsizkan, M., Baysak, S., Eyup, Y., & Ozcan, Y. (2020). Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E. Int J Dermatol, 59(8), 989-996. doi: 10.1111/ijd.14957
  • KAYA, M., KABAKLIOĞLU, M., & ERÖZ, R. (2021). Clinical Approach to Patients with Klippel-Feil Syndrome. Konuralp Tıp Dergisi, 13(1), 135-140.
  • Lidar, M., Kedem, R., Mor, A., Levartovsky, D., Langevitz, P., & Livneh, A. (2005). Arthritis as the sole episodic manifestation of familial Mediterranean fever. J Rheumatol, 32(5), 859-862.
  • Maggio, M. C., & Corsello, G. (2020). FMF is not always "fever": from clinical presentation to "treat to target". Ital J Pediatr, 46(1), 7. doi: 10.1186/s13052-019-0766-z
  • Majeed, H. A., El-Shanti, H., Al-Khateeb, M. S., & Rabaiha, Z. A. (2002). Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum, 31(6), 371-376. doi: 10.1053/sarh.2002.32551
  • Manna, R., & Rigante, D. (2019). Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans. Mediterr J Hematol Infect Dis, 11(1), e2019027. doi: 10.4084/MJHID.2019.027
  • Masters, S. L., Simon, A., Aksentijevich, I., & Kastner, D. L. (2009). Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol, 27, 621-668. doi: 10.1146/annurev.immunol.25.022106.141627
  • Migita, K., & Agematsu, K. (2011). [Clinical aspects of Familial Mediterranean fever]. Nihon Rinsho Meneki Gakkai Kaishi, 34(5), 355-360. doi: 10.2177/jsci.34.355
  • Migita, K., Asano, T., Sato, S., Koga, T., Fujita, Y., & Kawakami, A. (2018). Familial Mediterranean fever: overview of pathogenesis, clinical features and management. Immunol Med, 41(2), 55-61. doi: 10.1080/13497413.2018.1481579
  • Okur, M., Eroz, R., Mundlos, S., Senses, D. A., Ulgen, E., Ismailler, Z. B., & Ozcelik, D. (2012). EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. Genet Couns, 23(4), 483-485.
  • Ozcan, O., Erdal, H., Ilhan, G., Demir, D., Gurpinar, A. B., Neselioglu, S., & Erel, O. (2018). Plasma Ischemia-Modified Albumin Levels and Dynamic Thiol/Disulfide Balance in Sickle Cell Disease: A Case-Control Study. Turk J Haematol, 35(4), 265-270. doi: 10.4274/tjh.2018.0119
  • Ozcan, O., Erdal, H., & Yonden, Z. (2015). İskemi-reperfüzyon hasari ve oksidatif stres ilişkisine biyokimyasal bakiş. Mustafa Kemal Üniversitesi Tıp Dergisi, 6(23), 27-33.
  • Ozen, S. (2021). Update in familial Mediterranean fever. Curr Opin Rheumatol, 33(5), 398-402. doi: 10.1097/BOR.0000000000000821 Özcan O, E. H., Çakırca G, Yönden Z (2015). Oxidative stress and its impacts on intracellular lipids, proteins and DNA. J Clin Exp Invest, 6(3), 331-336.
  • Recep, E., DOGAN, M., Hüseyin, Y., & OZMERDIVENLI, R. A Family From Turkey With 761_764dupCCGC (p. Asn256Argfs70, c. 761_764dupCCGC) MEFV Gene Mutation, Their Clinical Features and Review of The Literature. Konuralp Medical Journal, 8(3), 214-217.
  • Recep, E., DOĞAN, M., Semih, B., & Hüseyin, Y. (2017). A seven years old girl with Klippel-Feil Syndrome, bilateral sprengel deformity, congenital unilateral renal agenesis and a heterozygous mutation M680I (G> C) in the MEFV gene. Konuralp Medical Journal, 9(2), 167-170.
  • Recep Eroz, M., Huseyin Yüce, Recep Özmerdivenli. (2016). MEFV Geni 761_764dupCCGC p.Asn256Argfs70, c.761_764dupCCGC Mutasyonlu Türkiyeden Bir Aile, Onların Klinik Özellikleri ve Literatür Taraması. Konuralp Tıp Dergisi, 8(3), 214-221.
  • Shinar, Y., Ceccherini, I., Rowczenio, D., Aksentijevich, I., Arostegui, J., Ben-Chetrit, E., . . . Touitou, I. (2020). ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. Clin Chem, 66(4), 525-536. doi: 10.1093/clinchem/hvaa024
  • Shohat, M., & Halpern, G. J. (2011). Familial Mediterranean fever--a review. Genet Med, 13(6), 487-498. doi: 10.1097/GIM.0b013e3182060456
  • Soysal, Z., Okur, M., Eroz, R., Gun, E., Kocabay, K., & Besir, F. H. (2015). Megalencephalic Leukoencephalopathy with Subcortical Cysts with Homozygous Mutation (C.448delc, P.Leu150 Ser Fsx11) on Exon 6 of Mlc1 Gene. Genet Couns, 26(2), 233-236.
  • Tripathy, N. K., Sinha, N., & Nityanand, S. (2004). Interleukin-8 in Takayasu's arteritis: plasma levels and relationship with disease activity. Clin Exp Rheumatol, 22(6 Suppl 36), S27-30.
  • Tufan, A., & Lachmann, H. J. (2020). Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci, 50(SI-2), 1591-1610. doi: 10.3906/sag-2008-11
  • Turay, S., & Eroz, R. (2021). White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations. Acta Neurol Belg, 121(3), 749-755. doi: 10.1007/s13760-021-01671-9
  • Turay, S., Eroz, R., & Basak, A. N. (2021). A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? Neurogenetics, 22(2), 127-132. doi: 10.1007/s10048-021-00643-8

Ailevi Akdeniz Ateşi Hakkında Bilinenler: Literatür Taraması

Year 2022, Volume: 3 Issue: 2, 145 - 155, 29.12.2022

Huseyin ERDAL Recep ERÖZ

Abstract

Kalıtsal otoinflamatuar hastalıkların en sık görüleni Ailevi Akdeniz Ateşidir (AAA). Genellikle, AAA bağışıklık düzenlenmesinde yardımcı bir protein olan ve MEFV geninin fonksiyon mutasyonlarının kazanılmasından meydana gelmektedir. Son yıllarda, gelişen teknolojik gelişmeler ile birlkte AAA tanısında, genetik testlerde ve tedavi uygulamalarında önemli ilerlemeler görülmektedir. Özellikle, yeni nesil dizeleme uygulamarı klinik açıdan önemli olan gen varyantlarının ortaya çıkmasına neden olmuştur. AAA, klinik olarak kısa ataklarla karakterize bir hastalık olarak görülse de, yapılan çalışmalarda kronik inflamatuar durum ile ilişkisi gösterilmiştir. AAA tedavisinde erken teşhis ve tedaviye olumlu yanıt hastaların iyileşme sürecinde oldukça önemlidir. Son yıllarda AAA hastalığı üzerine yapılan araştırmalar gittikçe artmaktadır. Bu derlemede, AAA üzerine son dönemde yapılmış olan çalışmaların ve elde edilen bulguların değerlendirlmesi amaçlanmıştır.

Keywords

FMF, MEFV, Ailevi Akdeniz Ateşi

References

  • Barut, K., Sahin, S., Adrovic, A., Sinoplu, A. B., Yucel, G., Pamuk, G., . . . Kasapcopur, O. (2018). Familial Mediterranean fever in childhood: a single-center experience. Rheumatol Int, 38(1), 67-74. doi: 10.1007/s00296-017-3796-0
  • Baykal, Y., Saglam, K., Yilmaz, M. I., Taslipinar, A., Akinci, S. B., & Inal, A. (2003). Serum sIL-2r, IL-6, IL-10 and TNF-alpha level in familial Mediterranean fever patients. Clin Rheumatol, 22(2), 99-101. doi: 10.1007/s10067-002-0682-1
  • Ben-Chetrit, E., & Touitou, I. (2009). Familial mediterranean Fever in the world. Arthritis Rheum, 61(10), 1447-1453. doi: 10.1002/art.24458
  • Bestas, A., Bolu, S., Unal, E., Aktar Karakaya, A., Eroz, R., Tekin, M., & Haspolat, Y. K. (2022). A rare cause of delayed puberty and primary amenorrhea: 17alpha-hydroxylase enzyme deficiency. Endocrine, 75(3), 927-933. doi: 10.1007/s12020-021-02914-8
  • Bolu, S., Eroz, R., Dogan, M., Arslanoglu, I., & Dundar, I. (2020). Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young. Indian Pediatr, 57(11), 1037-1039.
  • Bolu, S., Eroz, R., Dogan, M., Arslanoglu, I., Uzun, H., & Timur, F. (2020). A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus. Turk Pediatri Ars, 55(4), 434-437. doi: 10.14744/TurkPediatriArs.2019.05882
  • Buermans, H. P., & den Dunnen, J. T. (2014). Next generation sequencing technology: Advances and applications. Biochim Biophys Acta, 1842(10), 1932-1941. doi: 10.1016/j.bbadis.2014.06.015
  • Cakirca G, C. M., Erdal H, Neselioglu S, Erel O, Basarali MK, Cakirca TD. . (2018). Investigation of thiol/disulfide homeostasis in familial mediterranean fever patients. Clin Anal Med, 9(3), 231-234. doi: 10.4328/JCAM.5789
  • Cerquaglia, C., Diaco, M., Nucera, G., La Regina, M., Montalto, M., & Manna, R. (2005). Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: an update. Curr Drug Targets Inflamm Allergy, 4(1), 117-124. doi: 10.2174/1568010053622984
  • Damar, I. H., & Eroz, R. (2019). Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk. Medeni Med J, 34(4), 374-379. doi: 10.5222/MMJ.2019.93357
  • Damar, I. H., & Eroz, R. (2021). Do all Familial Mediterranean Fever (FMF) patients with recurrent chest pain have cardiac problems? KUWAIT MEDICAL JOURNAL, 53(2), 131-135.
  • Dogan, M., Eroz, R., Bolu, S., Yuce, H., Gezdirici, A., Arslanoglu, I., & Terali, K. (2022). Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel. Mol Biol Rep, 49(8), 7483-7495. doi: 10.1007/s11033-022-07552-5
  • Dogan, M., Eroz, R., & Ozturk, E. (2021). Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene. Ophthalmic Genet, 42(3), 276-282. doi: 10.1080/13816810.2021.1894461
  • Dogan, M., Eroz, R., Tecellioglu, M., Gezdirici, A., Cevik, B., & Baris, I. (2022). Clinical and Molecular Findings in a Turkish Family Who Had a (c.869- 1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis. Curr Alzheimer Res, 19(3), 223-235. doi: 10.2174/1567205019666220414101251
  • Dogan, M., Eroz, R., Terali, K., Gezdirici, A., & Bolu, S. (2021). Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. Mol Biol Rep, 48(2), 1465-1474. doi: 10.1007/s11033-021-06158-7
  • DOĞAN, M., KOCABAY, K., Emrah, G., ÖZMERDİVENLİ, R., & Recep, E. (2016). MEFV GENİNDE S288Y (P. SER863TYR, C. 863 C> A) MUTASYONU VE KLİNİĞİNİN ARAŞTIRILMASI. Duzce Medical Journal, 18(2), 66-68.
  • DOĞAN, M., KOCABAY, K., Emrah, G. Ü. N., ÖZMERDİVENLİ, R., & Recep, E. R. Ö. Z.. (2016). MEFV GENİNDE S288Y (P. SER863TYR, C. 863 C> A) MUTASYONU VE KLİNİĞİNİN ARAŞTIRILMASI. Duzce Medical Journal, 18(2), 66-68.
  • DOĞAN, M., Recep, E. R. Ö. Z., Hüseyin, Y. Ü. C. E., & ÖZMERDİVENLİ, R. . (2017). Yeni Nesil Dizileme (YND) Hakkında Bilinenler (Literatür Taraması). Duzce Medical Journal, 19(1), 27-30.
  • Dundar, M., Fahrioglu, U., Yildiz, S. H., Bakir-Gungor, B., Temel, S. G., Akin, H., . . . National Genetics Consortium, S. (2022). Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. Funct Integr Genomics, 22(3), 291-315. doi: 10.1007/s10142-021-00819-3
  • El-Shanti, H., Majeed, H. A., & El-Khateeb, M. (2006). Familial mediterranean fever in Arabs. Lancet, 367(9515), 1016-1024. doi: 10.1016/S0140-6736(06)68430-4
  • El Hasbani, G., Jawad, A., & Uthman, I. (2019). Update on the management of colchicine resistant Familial Mediterranean Fever (FMF). Orphanet J Rare Dis, 14(1), 224. doi: 10.1186/s13023-019-1201-7
  • Erdal, H., Ciftciler, R., Tuncer, S. C., & Ozcan, O. (2022). Evaluation of dynamic thiol-disulfide homeostasis and ischemia-modified albumin levels in patients with chronic lymphocytic leukemia. J Investig Med. doi: 10.1136/jim-2022-002568
  • Eroz, R., Damar, I. H., & Kilicaslan, O. (2020). Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant. Blood Coagul Fibrinolysis, 31(4), 264-269. doi: 10.1097/MBC.0000000000000911
  • Eroz, R., Dogan, M., & Kocabay, K. (2016). A Novel Mutation K447m (P.Lys447met, C.1340 a>T) Identified in Exon 4 of the Mefv Gene. Genet Couns, 27(4), 525-528.
  • Eroz, R., Doğan, M., & Yuce, H. A Novel Deletion Mutation 334-335 DelG (P. Glu112fs, C. 334-335delg) Identified In Exon 2 Of The MEFV Gene Associated With Familial Mediterranean Fever. Paper presented at the Congress abstract.
  • Eroz, R., Yuce, H., & Koksal, M. (2019). A family with rare E167D mutation from Turkey with a total of four members clinically diagnosed as FMF. Erciyes Medical Journal, 41(S1), 49-51.
  • ERÖZ, R., DOĞAN, M., YÜCE, H., KOCABAY, K., & YÜKSEL, E. (2016). A Turkish Family with A89T (p. Ala89Thr, c. 265G> A) Mutation on The MEFV Gene, Their Clinical Findings and Review of The Literature. Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi, 30(2), 67-70.
  • Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. (2005). Medicine (Baltimore), 84(1), 1-11. doi: 10.1097/01.md.0000152370.84628.0c
  • Gezdirici, A., Terali, K., Gulec, E. Y., Bornaun, H., Dogan, M., & Eroz, R. (2021). An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants. J Hum Genet, 66(7), 647-657. doi: 10.1038/s10038-021-00899-w
  • ibrahim Halil Damar, R. E. (2019). Yeni ve Nadir Mutasyonlu FMF Hastalarında Kardiyak Tutulum. Konuralp Tıp Dergisi, 11(2), 274-277. Karagun, E., Eroz, R., Gamsizkan, M., Baysak, S., Eyup, Y., & Ozcan, Y. (2020). Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E. Int J Dermatol, 59(8), 989-996. doi: 10.1111/ijd.14957
  • KAYA, M., KABAKLIOĞLU, M., & ERÖZ, R. (2021). Clinical Approach to Patients with Klippel-Feil Syndrome. Konuralp Tıp Dergisi, 13(1), 135-140.
  • Lidar, M., Kedem, R., Mor, A., Levartovsky, D., Langevitz, P., & Livneh, A. (2005). Arthritis as the sole episodic manifestation of familial Mediterranean fever. J Rheumatol, 32(5), 859-862.
  • Maggio, M. C., & Corsello, G. (2020). FMF is not always "fever": from clinical presentation to "treat to target". Ital J Pediatr, 46(1), 7. doi: 10.1186/s13052-019-0766-z
  • Majeed, H. A., El-Shanti, H., Al-Khateeb, M. S., & Rabaiha, Z. A. (2002). Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum, 31(6), 371-376. doi: 10.1053/sarh.2002.32551
  • Manna, R., & Rigante, D. (2019). Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans. Mediterr J Hematol Infect Dis, 11(1), e2019027. doi: 10.4084/MJHID.2019.027
  • Masters, S. L., Simon, A., Aksentijevich, I., & Kastner, D. L. (2009). Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol, 27, 621-668. doi: 10.1146/annurev.immunol.25.022106.141627
  • Migita, K., & Agematsu, K. (2011). [Clinical aspects of Familial Mediterranean fever]. Nihon Rinsho Meneki Gakkai Kaishi, 34(5), 355-360. doi: 10.2177/jsci.34.355
  • Migita, K., Asano, T., Sato, S., Koga, T., Fujita, Y., & Kawakami, A. (2018). Familial Mediterranean fever: overview of pathogenesis, clinical features and management. Immunol Med, 41(2), 55-61. doi: 10.1080/13497413.2018.1481579
  • Okur, M., Eroz, R., Mundlos, S., Senses, D. A., Ulgen, E., Ismailler, Z. B., & Ozcelik, D. (2012). EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. Genet Couns, 23(4), 483-485.
  • Ozcan, O., Erdal, H., Ilhan, G., Demir, D., Gurpinar, A. B., Neselioglu, S., & Erel, O. (2018). Plasma Ischemia-Modified Albumin Levels and Dynamic Thiol/Disulfide Balance in Sickle Cell Disease: A Case-Control Study. Turk J Haematol, 35(4), 265-270. doi: 10.4274/tjh.2018.0119
  • Ozcan, O., Erdal, H., & Yonden, Z. (2015). İskemi-reperfüzyon hasari ve oksidatif stres ilişkisine biyokimyasal bakiş. Mustafa Kemal Üniversitesi Tıp Dergisi, 6(23), 27-33.
  • Ozen, S. (2021). Update in familial Mediterranean fever. Curr Opin Rheumatol, 33(5), 398-402. doi: 10.1097/BOR.0000000000000821 Özcan O, E. H., Çakırca G, Yönden Z (2015). Oxidative stress and its impacts on intracellular lipids, proteins and DNA. J Clin Exp Invest, 6(3), 331-336.
  • Recep, E., DOGAN, M., Hüseyin, Y., & OZMERDIVENLI, R. A Family From Turkey With 761_764dupCCGC (p. Asn256Argfs70, c. 761_764dupCCGC) MEFV Gene Mutation, Their Clinical Features and Review of The Literature. Konuralp Medical Journal, 8(3), 214-217.
  • Recep, E., DOĞAN, M., Semih, B., & Hüseyin, Y. (2017). A seven years old girl with Klippel-Feil Syndrome, bilateral sprengel deformity, congenital unilateral renal agenesis and a heterozygous mutation M680I (G> C) in the MEFV gene. Konuralp Medical Journal, 9(2), 167-170.
  • Recep Eroz, M., Huseyin Yüce, Recep Özmerdivenli. (2016). MEFV Geni 761_764dupCCGC p.Asn256Argfs70, c.761_764dupCCGC Mutasyonlu Türkiyeden Bir Aile, Onların Klinik Özellikleri ve Literatür Taraması. Konuralp Tıp Dergisi, 8(3), 214-221.
  • Shinar, Y., Ceccherini, I., Rowczenio, D., Aksentijevich, I., Arostegui, J., Ben-Chetrit, E., . . . Touitou, I. (2020). ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. Clin Chem, 66(4), 525-536. doi: 10.1093/clinchem/hvaa024
  • Shohat, M., & Halpern, G. J. (2011). Familial Mediterranean fever--a review. Genet Med, 13(6), 487-498. doi: 10.1097/GIM.0b013e3182060456
  • Soysal, Z., Okur, M., Eroz, R., Gun, E., Kocabay, K., & Besir, F. H. (2015). Megalencephalic Leukoencephalopathy with Subcortical Cysts with Homozygous Mutation (C.448delc, P.Leu150 Ser Fsx11) on Exon 6 of Mlc1 Gene. Genet Couns, 26(2), 233-236.
  • Tripathy, N. K., Sinha, N., & Nityanand, S. (2004). Interleukin-8 in Takayasu's arteritis: plasma levels and relationship with disease activity. Clin Exp Rheumatol, 22(6 Suppl 36), S27-30.
  • Tufan, A., & Lachmann, H. J. (2020). Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci, 50(SI-2), 1591-1610. doi: 10.3906/sag-2008-11
  • Turay, S., & Eroz, R. (2021). White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations. Acta Neurol Belg, 121(3), 749-755. doi: 10.1007/s13760-021-01671-9
  • Turay, S., Eroz, R., & Basak, A. N. (2021). A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? Neurogenetics, 22(2), 127-132. doi: 10.1007/s10048-021-00643-8

Details

Primary Language English
Subjects Health Care Sciences and Services
Journal Section Review
Authors

Huseyin ERDAL
Aksaray Üniversitesi,Tıp Fakültesi
0000-0003-0786-5077
Türkiye

Recep ERÖZ
AKSARAY ÜNİVERSİTESİ
0000-0003-0840-2613
Türkiye

Publication Date December 29, 2022
Submission Date October 3, 2022
Acceptance Date November 11, 2022
Published in Issue Year 2022Volume: 3 Issue: 2

Cite

Bibtex @review { asujshr1183793, journal = {Aksaray University Journal of Sport and Health Researches}, eissn = {2757-6310}, address = {Aksaray Üniversitesi Rektörlük İdari Birimler Spor ve Sağlık Alanında İhtisaslaşma Koordinatörlüğü Aksaray/Merkez, 68100}, publisher = {Aksaray University}, year = {2022}, volume = {3}, number = {2}, pages = {145 - 155}, doi = {10.54152/asujshr.1183793}, title = {The Known About Familial Mediterranean Fever: Literature Review}, key = {cite}, author = {Erdal, Huseyin and Eröz, Recep} }
APA Erdal, H. & Eröz, R. (2022). The Known About Familial Mediterranean Fever: Literature Review . Aksaray University Journal of Sport and Health Researches , 3 (2) , 145-155 . Retrieved from http://asujshr.aksaray.edu.tr/en/pub/issue/73325/1183793
MLA Erdal, H. , Eröz, R. "The Known About Familial Mediterranean Fever: Literature Review" . Aksaray University Journal of Sport and Health Researches 3 (2022 ): 145-155 <http://asujshr.aksaray.edu.tr/en/pub/issue/73325/1183793>
Chicago Erdal, H. , Eröz, R. "The Known About Familial Mediterranean Fever: Literature Review". Aksaray University Journal of Sport and Health Researches 3 (2022 ): 145-155
RIS TY - JOUR T1 - The Known About Familial Mediterranean Fever: Literature Review AU - HuseyinErdal, RecepEröz Y1 - 2022 PY - 2022 N1 - DO - T2 - Aksaray University Journal of Sport and Health Researches JF - Journal JO - JOR SP - 145 EP - 155 VL - 3 IS - 2 SN - -2757-6310 M3 - UR - Y2 - 2022 ER -
EndNote %0 Aksaray University Journal of Sport and Health Researches The Known About Familial Mediterranean Fever: Literature Review %A Huseyin Erdal , Recep Eröz %T The Known About Familial Mediterranean Fever: Literature Review %D 2022 %J Aksaray University Journal of Sport and Health Researches %P -2757-6310 %V 3 %N 2 %R %U
ISNAD Erdal, Huseyin , Eröz, Recep . "The Known About Familial Mediterranean Fever: Literature Review". Aksaray University Journal of Sport and Health Researches 3 / 2 (December 2022): 145-155 .
AMA Erdal H. , Eröz R. The Known About Familial Mediterranean Fever: Literature Review. ASUJSHR. 2022; 3(2): 145-155.
Vancouver Erdal H. , Eröz R. The Known About Familial Mediterranean Fever: Literature Review. Aksaray University Journal of Sport and Health Researches. 2022; 3(2): 145-155.
IEEE H. Erdal and R. Eröz , "The Known About Familial Mediterranean Fever: Literature Review", Aksaray University Journal of Sport and Health Researches, vol. 3, no. 2, pp. 145-155, Dec. 2022, doi:10.54152/asujshr.1183793
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