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Трудности диагностики периодической болезни: акцент на нетипичных клинических проявлениях
Барсук М.В., Новиков А.В., Михалина Т.А., Рамеев В.В., Лысенко (Козловская) Л.В. Трудности диагностики периодической болезни: акцент на нетипичных клинических проявлениях. Терапевтический архив. 2024;96(6):622–627. DOI: 10.26442/00403660.2024.06.202730
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
________________________________________________
Barsuk MV, Novikov AV, Mikhalina TA, Rameev VV, Lysenko (Kozlovskaya) LV. Challenges in diagnosing familial Mediterranean fever: exploring atypical clinical features. Clinical case. Terapevticheskii Arkhiv (Ter. Arkh.). 2024;96(6):622–627. DOI: 10.26442/00403660.2024.06.202730
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Аннотация
В серии клинических наблюдений представлены описания 3 пациентов с периодической болезнью, имеющих нетипичные проявления и аномальные, с точки зрения законов Грегора Менделя, механизмы наследования. Молекулярно-генетическое исследование является важным, но нередко не окончательным инструментом в диагностике заболевания. Генетическое тестирование в атипичных случаях необходимо в первую очередь для объяснения механизма воспаления и выбора оптимальной тактики терапии. Приведенные клинические случаи демонстрируют изменения представлений о спектре фенотипических проявлений периодической болезни в условиях широкого внедрения в практику молекулярно-генетических методов исследования.
Ключевые слова: периодическая болезнь, аутовоспаление, гетерозиготные мутации, нетипичное течение, эпилепсия, нейтрофильный дерматоз, синдром Бехчета
Ключевые слова: периодическая болезнь, аутовоспаление, гетерозиготные мутации, нетипичное течение, эпилепсия, нейтрофильный дерматоз, синдром Бехчета
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This clinical case series presents descriptions of 3 patients with familial Mediterranean fever (FMF) who have atypical manifestations and abnormal inheritance mechanisms in terms of Gregor Mendel's laws. Although molecular genetic testing can help with disease diagnosis, it is not always conclusive. The primary need for genetic testing in atypical cases is to explain the mechanism of inflammation and to select the optimal therapy. These clinical observations demonstrate the changes in the spectrum of phenotypic manifestations of FMF in the context of the widespread introduction of molecular genetic methods.
Keywords: familial Mediterranean fever, autoinflammation, heterozygous mutations, atypical course, epilepsy, neutrophilic dermatosis, Behchet's disease
Полный текст
Список литературы
1. Виноградова О.М. Периодическая Болезнь. Медицина, 1973 [Vinogradova OM. Periodicheskaia bolezn’. Moscow: Meditsina, 1973 (in Russian)].
2. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879-85. DOI:10.1002/art.1780401023
3. Aksentijevich I, Centola M, Deng Z, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell.
1997;90(4):797-807. DOI:10.1016/S0092-8674(00)80539-5
4. Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16. New Eng J Med. 1992;326(23):1509-13. DOI:10.1056/NEJM199206043262301
5. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133-44. DOI:10.1016/S0092-8674(00)80721-7
6. Havnaer A, Han G. Autoinflammatory Disorders: A Review and Upd ate on Pathogenesis and Treatment. Am J Clin Dermatol. 2019;20(4):539-64. DOI:10.1007/S40257-019-00440-Y
7. Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDS): A Delphi study. Ann Rheum Dis.
2018;77(11):1558-65. DOI:10.1136/annrheumdis-2017-212515
8. Рамеев В.В., Симонян А.Х., Богданова М.В., и др. Периодическая болезнь: основные проблемы диагностики и лечения. Клиническая фармакология и терапия. 2021;30(2):36-43 [Rameev V, Simonyan A, Bogdanova M, et al. Familial Mediterranean fever: diagnostic issues and treatment options. Klinicheskaia farmakologiia i terapiia. 2021;30(2):36-43 (in Russian)]. DOI:10.32756/ 0869-5490-2021-2-36-43
9. Bernot A, Da Silva C, Petit JL, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet.
1998;7(8):1317-25. DOI:10.1093/HMG/7.8.1317
10. Booth DR, Gillmore JD, Lachmann HJ, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM. 2000;93(4):217-21. DOI:10.1093/QJMED/93.4.217
11. Kandur Y, Kocakap DBS, Alpcan A, Tursun S. Clinical significance of MEFV gene variation R202Q. Clin Rheumatol. 2022;41(1):271-4. DOI:10.1007/S10067-021-05906-1
12. Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H. MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: A retrospective clinical and molecular study. Nephrology Dialysis Transplantation. 2010;25(8):2520-3. DOI:10.1093/ndt/gfp632
13. Papa R, Doglio M, Lachmann HJ, et al. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. Orphanet J Rare Dis. 2017;12(1):167. DOI:10.1186/s13023-017-0720-3
14. Yalçınkaya F, Özen S, Özçakar ZB, et al. A new se t of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology. 2009;48(4):395-8. DOI:10.1093/rheumatology/ken509
15. Canpolat M, Gumus H, Gunduz Z, et al. Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey. Neuropediatrics. 2017;48(2):079-85. DOI:10.1055/s-0036-1593374
16. Bektaş PC, Tufan AK, Çetin N, et al. Neurological Face of Familial Mediterranean Fever. Turkish Archives of Pediatrics. 2022;57(5):511-5. DOI:10.5152/TURKARCHPEDIATR.2022.21368
17. Salehzadeh F, Azami A, Motezarre M, et al. Neurological manifestations in familial mediterranean fever: A genotype-phenotype correlation study. Open Access Rheumatol. 2020;12:15-9. DOI:10.2147/OARRR.S238649
18. Olbjørn C, Fjærli HO. En tre år gammel jente med magesmerter og feber. Tidsskrift for den Norske Laegeforening. 2010;130(5):494-5. DOI:10.4045/tidsskr.09.0692
19. Gedalia A, Zamir S. Neurologic manifestations in familial Mediterranean fever. Pediatr Neurol. 1993;9(4):301-2. DOI:10.1016/0887-8994(93)90068-N
20. Mkrtchyan N, Amaryan G, Aghababyan N, et al. P01-045 – Epilepsy in Armenian children with FMF. Pediatric Rheumatology. 2013;11(S1):A48. DOI:10.1186/1546-0096-11-S1-A48
21. Ahmed MH, Ibrahim AM, Ragab SM, Mahros AM. Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation. Egyptian Rheumatology and Rehabilitation. 2022;49(1):1-8. DOI:10.1186/S43166-021-00106-W
22. Gullu UU, Balaban İ, Kara SS, et al. Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever. Cureus. 2023;15(8):6-13. DOI:10.7759/cureus.43001
23. Matsumoto H, Saito K, Sumichika Y, et al. Atypical Familial Mediterranean Fever Presenting with Recurrent Upper Back Pain: A Case Report. Tohoku Journal of Experimental Medicine. 2023;260(2):165-9. DOI:10.1620/tjem.2023.J030
24. Nir-Paz R, Ben-Chetrit E, Pikarsky E, et al. Unusual presentation of familial Mediterranean fever: Role of genetic diagnosis. Ann Rheum Dis. 2000;59(10):836-8. DOI:10.1136/ard.59.10.836
25. Dimeas G, Dimeas IE, Papacharalampous K, et al. Familial Mediterranean Fever in a 28-Year-Old Male Presented as a Painless Massive Pleural Effusion. Cureus. 2023;15(7). DOI:10.7759/cureus.41776
26. Kumei S, Ishioh M, Murakami Y, et al. A patient with familial Mediterranean fever mimicking diarrhea-dominant irritable bowel syndrome who successfully responded to treatment with colchicine: a case report. J Med Case Rep. 2022;16(1):1-5. DOI:10.1186/s13256-022-03446-z
27. Aydin O, Han EB, Ozdogan H, Ugurlu S. Late-Onset Familial Mediterranean Fever: Single-Center Experience And Literature Review. Intern Emerg Med. 2022;17(5):1301-6. DOI:10.21203/rs.2.23028/v1
28. Moghaddas F, Llamas R, Nardo D De, et al. A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of Pyrin and distinction to Familial Mediterranean Fever. Ann Rheum Dis. 2017;76(12):2085-94. DOI:10.1136/annrheumdis-2017-211473
29. Kiyota M, Oya M, Ayano M, et al. First case of pyrin-associated autoinflammation with neutrophilic dermatosis complicated by amyloidosis. Rheumatology (United Kingdom). 2020;59(9):E41-3. DOI:10.1093/rheumatology/keaa005
30. Delplanque M, Ducharme-Bénard S, Moguelet P, et al. Is neutrophilic dermatosis a manifestation of familial Mediterranean fever? Scand J Rheumatol. 2022;51(1):42-9. DOI:10.1080/03009742.2021.1904588
31. Balcl-Peynircioglu B, Kaya-Akça Ü, Arlcl ZS, et al. Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients. Rheumatology (Oxford). 2020;59(6):1372-80. DOI:10.1093/RHEUMATOLOGY/KEZ410
32. Keven K, Sengul S, Kutlay S, et al. Long-term outcome of renal transplantation in patients with familial Mediterranean fever amyloidosis: a single-center experience. Transplant Proc. 2004;36(9):2632-4. DOI:10.1016/J.TRANSPROCEED.2004.09.065
33. Akar S, Yuksel F, Tunca M, et al. Familial mediterranean fever: Risk factors, causes of death, and prognosis in the colchicine era. Medicine. 2012;91(3):131-6. DOI:10.1097/MD.0b013e3182561a45
2. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879-85. DOI:10.1002/art.1780401023
3. Aksentijevich I, Centola M, Deng Z, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell.
1997;90(4):797-807. DOI:10.1016/S0092-8674(00)80539-5
4. Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16. New Eng J Med. 1992;326(23):1509-13. DOI:10.1056/NEJM199206043262301
5. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133-44. DOI:10.1016/S0092-8674(00)80721-7
6. Havnaer A, Han G. Autoinflammatory Disorders: A Review and Upd ate on Pathogenesis and Treatment. Am J Clin Dermatol. 2019;20(4):539-64. DOI:10.1007/S40257-019-00440-Y
7. Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDS): A Delphi study. Ann Rheum Dis.
2018;77(11):1558-65. DOI:10.1136/annrheumdis-2017-212515
8. Рамеев В.В., Симонян А.Х., Богданова М.В., и др. Периодическая болезнь: основные проблемы диагностики и лечения. Клиническая фармакология и терапия. 2021;30(2):36-43 [Rameev V, Simonyan A, Bogdanova M, et al. Familial Mediterranean fever: diagnostic issues and treatment options. Klinicheskaia farmakologiia i terapiia. 2021;30(2):36-43 (in Russian)]. DOI:10.32756/ 0869-5490-2021-2-36-43
9. Bernot A, Da Silva C, Petit JL, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet.
1998;7(8):1317-25. DOI:10.1093/HMG/7.8.1317
10. Booth DR, Gillmore JD, Lachmann HJ, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM. 2000;93(4):217-21. DOI:10.1093/QJMED/93.4.217
11. Kandur Y, Kocakap DBS, Alpcan A, Tursun S. Clinical significance of MEFV gene variation R202Q. Clin Rheumatol. 2022;41(1):271-4. DOI:10.1007/S10067-021-05906-1
12. Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H. MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: A retrospective clinical and molecular study. Nephrology Dialysis Transplantation. 2010;25(8):2520-3. DOI:10.1093/ndt/gfp632
13. Papa R, Doglio M, Lachmann HJ, et al. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. Orphanet J Rare Dis. 2017;12(1):167. DOI:10.1186/s13023-017-0720-3
14. Yalçınkaya F, Özen S, Özçakar ZB, et al. A new se t of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology. 2009;48(4):395-8. DOI:10.1093/rheumatology/ken509
15. Canpolat M, Gumus H, Gunduz Z, et al. Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey. Neuropediatrics. 2017;48(2):079-85. DOI:10.1055/s-0036-1593374
16. Bektaş PC, Tufan AK, Çetin N, et al. Neurological Face of Familial Mediterranean Fever. Turkish Archives of Pediatrics. 2022;57(5):511-5. DOI:10.5152/TURKARCHPEDIATR.2022.21368
17. Salehzadeh F, Azami A, Motezarre M, et al. Neurological manifestations in familial mediterranean fever: A genotype-phenotype correlation study. Open Access Rheumatol. 2020;12:15-9. DOI:10.2147/OARRR.S238649
18. Olbjørn C, Fjærli HO. En tre år gammel jente med magesmerter og feber. Tidsskrift for den Norske Laegeforening. 2010;130(5):494-5. DOI:10.4045/tidsskr.09.0692
19. Gedalia A, Zamir S. Neurologic manifestations in familial Mediterranean fever. Pediatr Neurol. 1993;9(4):301-2. DOI:10.1016/0887-8994(93)90068-N
20. Mkrtchyan N, Amaryan G, Aghababyan N, et al. P01-045 – Epilepsy in Armenian children with FMF. Pediatric Rheumatology. 2013;11(S1):A48. DOI:10.1186/1546-0096-11-S1-A48
21. Ahmed MH, Ibrahim AM, Ragab SM, Mahros AM. Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation. Egyptian Rheumatology and Rehabilitation. 2022;49(1):1-8. DOI:10.1186/S43166-021-00106-W
22. Gullu UU, Balaban İ, Kara SS, et al. Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever. Cureus. 2023;15(8):6-13. DOI:10.7759/cureus.43001
23. Matsumoto H, Saito K, Sumichika Y, et al. Atypical Familial Mediterranean Fever Presenting with Recurrent Upper Back Pain: A Case Report. Tohoku Journal of Experimental Medicine. 2023;260(2):165-9. DOI:10.1620/tjem.2023.J030
24. Nir-Paz R, Ben-Chetrit E, Pikarsky E, et al. Unusual presentation of familial Mediterranean fever: Role of genetic diagnosis. Ann Rheum Dis. 2000;59(10):836-8. DOI:10.1136/ard.59.10.836
25. Dimeas G, Dimeas IE, Papacharalampous K, et al. Familial Mediterranean Fever in a 28-Year-Old Male Presented as a Painless Massive Pleural Effusion. Cureus. 2023;15(7). DOI:10.7759/cureus.41776
26. Kumei S, Ishioh M, Murakami Y, et al. A patient with familial Mediterranean fever mimicking diarrhea-dominant irritable bowel syndrome who successfully responded to treatment with colchicine: a case report. J Med Case Rep. 2022;16(1):1-5. DOI:10.1186/s13256-022-03446-z
27. Aydin O, Han EB, Ozdogan H, Ugurlu S. Late-Onset Familial Mediterranean Fever: Single-Center Experience And Literature Review. Intern Emerg Med. 2022;17(5):1301-6. DOI:10.21203/rs.2.23028/v1
28. Moghaddas F, Llamas R, Nardo D De, et al. A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of Pyrin and distinction to Familial Mediterranean Fever. Ann Rheum Dis. 2017;76(12):2085-94. DOI:10.1136/annrheumdis-2017-211473
29. Kiyota M, Oya M, Ayano M, et al. First case of pyrin-associated autoinflammation with neutrophilic dermatosis complicated by amyloidosis. Rheumatology (United Kingdom). 2020;59(9):E41-3. DOI:10.1093/rheumatology/keaa005
30. Delplanque M, Ducharme-Bénard S, Moguelet P, et al. Is neutrophilic dermatosis a manifestation of familial Mediterranean fever? Scand J Rheumatol. 2022;51(1):42-9. DOI:10.1080/03009742.2021.1904588
31. Balcl-Peynircioglu B, Kaya-Akça Ü, Arlcl ZS, et al. Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients. Rheumatology (Oxford). 2020;59(6):1372-80. DOI:10.1093/RHEUMATOLOGY/KEZ410
32. Keven K, Sengul S, Kutlay S, et al. Long-term outcome of renal transplantation in patients with familial Mediterranean fever amyloidosis: a single-center experience. Transplant Proc. 2004;36(9):2632-4. DOI:10.1016/J.TRANSPROCEED.2004.09.065
33. Akar S, Yuksel F, Tunca M, et al. Familial mediterranean fever: Risk factors, causes of death, and prognosis in the colchicine era. Medicine. 2012;91(3):131-6. DOI:10.1097/MD.0b013e3182561a45
________________________________________________
1. Vinogradova OM. Periodicheskaia bolezn’. Moscow: Meditsina, 1973 (in Russian).
2. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879-85. DOI:10.1002/art.1780401023
3. Aksentijevich I, Centola M, Deng Z, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell.
1997;90(4):797-807. DOI:10.1016/S0092-8674(00)80539-5
4. Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16. New Eng J Med. 1992;326(23):1509-13. DOI:10.1056/NEJM199206043262301
5. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133-44. DOI:10.1016/S0092-8674(00)80721-7
6. Havnaer A, Han G. Autoinflammatory Disorders: A Review and Upd ate on Pathogenesis and Treatment. Am J Clin Dermatol. 2019;20(4):539-64. DOI:10.1007/S40257-019-00440-Y
7. Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDS): A Delphi study. Ann Rheum Dis.
2018;77(11):1558-65. DOI:10.1136/annrheumdis-2017-212515
8. Rameev V, Simonyan A, Bogdanova M, et al. Familial Mediterranean fever: diagnostic issues and treatment options. Klinicheskaia farmakologiia i terapiia. 2021;30(2):36-43 (in Russian). DOI:10.32756/ 0869-5490-2021-2-36-43
9. Bernot A, Da Silva C, Petit JL, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet.
1998;7(8):1317-25. DOI:10.1093/HMG/7.8.1317
10. Booth DR, Gillmore JD, Lachmann HJ, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM. 2000;93(4):217-21. DOI:10.1093/QJMED/93.4.217
11. Kandur Y, Kocakap DBS, Alpcan A, Tursun S. Clinical significance of MEFV gene variation R202Q. Clin Rheumatol. 2022;41(1):271-4. DOI:10.1007/S10067-021-05906-1
12. Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H. MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: A retrospective clinical and molecular study. Nephrology Dialysis Transplantation. 2010;25(8):2520-3. DOI:10.1093/ndt/gfp632
13. Papa R, Doglio M, Lachmann HJ, et al. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. Orphanet J Rare Dis. 2017;12(1):167. DOI:10.1186/s13023-017-0720-3
14. Yalçınkaya F, Özen S, Özçakar ZB, et al. A new se t of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology. 2009;48(4):395-8. DOI:10.1093/rheumatology/ken509
15. Canpolat M, Gumus H, Gunduz Z, et al. Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey. Neuropediatrics. 2017;48(2):079-85. DOI:10.1055/s-0036-1593374
16. Bektaş PC, Tufan AK, Çetin N, et al. Neurological Face of Familial Mediterranean Fever. Turkish Archives of Pediatrics. 2022;57(5):511-5. DOI:10.5152/TURKARCHPEDIATR.2022.21368
17. Salehzadeh F, Azami A, Motezarre M, et al. Neurological manifestations in familial mediterranean fever: A genotype-phenotype correlation study. Open Access Rheumatol. 2020;12:15-9. DOI:10.2147/OARRR.S238649
18. Olbjørn C, Fjærli HO. En tre år gammel jente med magesmerter og feber. Tidsskrift for den Norske Laegeforening. 2010;130(5):494-5. DOI:10.4045/tidsskr.09.0692
19. Gedalia A, Zamir S. Neurologic manifestations in familial Mediterranean fever. Pediatr Neurol. 1993;9(4):301-2. DOI:10.1016/0887-8994(93)90068-N
20. Mkrtchyan N, Amaryan G, Aghababyan N, et al. P01-045 – Epilepsy in Armenian children with FMF. Pediatric Rheumatology. 2013;11(S1):A48. DOI:10.1186/1546-0096-11-S1-A48
21. Ahmed MH, Ibrahim AM, Ragab SM, Mahros AM. Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation. Egyptian Rheumatology and Rehabilitation. 2022;49(1):1-8. DOI:10.1186/S43166-021-00106-W
22. Gullu UU, Balaban İ, Kara SS, et al. Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever. Cureus. 2023;15(8):6-13. DOI:10.7759/cureus.43001
23. Matsumoto H, Saito K, Sumichika Y, et al. Atypical Familial Mediterranean Fever Presenting with Recurrent Upper Back Pain: A Case Report. Tohoku Journal of Experimental Medicine. 2023;260(2):165-9. DOI:10.1620/tjem.2023.J030
24. Nir-Paz R, Ben-Chetrit E, Pikarsky E, et al. Unusual presentation of familial Mediterranean fever: Role of genetic diagnosis. Ann Rheum Dis. 2000;59(10):836-8. DOI:10.1136/ard.59.10.836
25. Dimeas G, Dimeas IE, Papacharalampous K, et al. Familial Mediterranean Fever in a 28-Year-Old Male Presented as a Painless Massive Pleural Effusion. Cureus. 2023;15(7). DOI:10.7759/cureus.41776
26. Kumei S, Ishioh M, Murakami Y, et al. A patient with familial Mediterranean fever mimicking diarrhea-dominant irritable bowel syndrome who successfully responded to treatment with colchicine: a case report. J Med Case Rep. 2022;16(1):1-5. DOI:10.1186/s13256-022-03446-z
27. Aydin O, Han EB, Ozdogan H, Ugurlu S. Late-Onset Familial Mediterranean Fever: Single-Center Experience And Literature Review. Intern Emerg Med. 2022;17(5):1301-6. DOI:10.21203/rs.2.23028/v1
28. Moghaddas F, Llamas R, Nardo D De, et al. A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of Pyrin and distinction to Familial Mediterranean Fever. Ann Rheum Dis. 2017;76(12):2085-94. DOI:10.1136/annrheumdis-2017-211473
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Авторы
М.В. Барсук, А.В. Новиков, Т.А. Михалина, В.В. Рамеев*, Л.В. Лысенко (Козловская)
ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет), Москва, Россия
*vvrameev@mail.ru
ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет), Москва, Россия
*vvrameev@mail.ru
________________________________________________
Maria V. Barsuk, Alexander V. Novikov, Tamara A. Mikhalina, Vilen V. Rameev*, Lidiia V. Lysenko (Kozlovskaya)
Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
*vvrameev@mail.ru
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