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Трудности диагностики периодической болезни: акцент на нетипичных клинических проявлениях - Журнал Терапевтический архив №6 Вопросы нефрологии 2024
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.
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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
Keywords: familial Mediterranean fever, autoinflammation, heterozygous mutations, atypical course, epilepsy, neutrophilic dermatosis, Behchet's disease
Ключевые слова: периодическая болезнь, аутовоспаление, гетерозиготные мутации, нетипичное течение, эпилепсия, нейтрофильный дерматоз, синдром Бехчета
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Keywords: familial Mediterranean fever, autoinflammation, heterozygous mutations, atypical course, epilepsy, neutrophilic dermatosis, Behchet's disease
Полный текст
Список литературы
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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. 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
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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
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
Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
*vvrameev@mail.ru
ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет), Москва, Россия
*vvrameev@mail.ru
________________________________________________
Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
*vvrameev@mail.ru
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