Kroni̇k Hastalığı Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

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DOI :10.26650/B/CH32.2024.010.021   IUP :10.26650/B/CH32.2024.010.021    Tam Metin (PDF)

Ai̇levi̇ Akdeni̇z Ateşi̇ Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

Fatma Gül Demirkan, Nuray Aktay Ayaz

Ailevi Akdeniz Ateşi, bu zamana kadar tanımlanan tüm kalıtsal periyodik ateş sendromlarının en eskisi ve en sık görülenidir. Ateş, karın, göğüs ya da eklem ağrısının tekrarlayan atakları ile karakterize bir hastalıktır. Hastalığın pirin adlı bir proteini kodlayan MEFV genindeki mutasyonlar sonucu geliştiği bilinmektedir. Ailevi Akdeniz Ateşi tanısı klinik olarak konur. Periyodik olarak ortaya çıkan bulgular bir uyaran olmaksızın aniden başlar ve sıklıkla 1-3 gün içinde kendiliğinden kaybolur. Ataklar genelde 20 yaşından önce başlar. Ataklar arasında klinik belirtiler açısından tamamen ‘sağlıklı’ bir dönem yaşanır. Tedavinin temeli, ateşli atakların ortaya çıkmasını engellemek için her gün ömür boyu kullanılan oral kolşisindir. Kolşisine yetersiz yanıt veren hastalar, interlökin-1 bloke eden ajanlar ile tedavi edilebilir. En önemli morbidite ve mortalite nedeni renal yetmezlik ile sonuçlanan amiloidozdur. Hastalık sıklıkla erken yaşlarda başladığı ve kronik bir seyri olduğu için çocukluk çağında önemli bir sağlık sorunu olarak ortaya çıkmaktadır. Bazı çocuklarda ağır sporlar ya da uzun zaman ayakta kalmak Ailevi Akdeniz Ateşi ataklarını tetikleyebilir veya ortaya çıkacak bir atağın şiddetli geçmesine neden olabilir. Çocukların tedavi altındayken ya da atakları sırasında beslenme düzenlerinde herhangi bir değişiklik yapmalarına ihtiyaç yoktur. Bazen kolşisin kullanan çocuklarda sekonder laktoz intoleransı gelişebildiği için laktozsuz diyetle sindirim sistemi şikâyetleri kontrol altına alınabilir. Bu bölümde Ailevi Akdeniz Ateşi hastalığı olan çocukların izlemi, okul yaşantılarına hastalığın etkisi, bağışıklama önerileri ve hastalığın psikososyal etkileri tartışılacaktır.


Anahtar Kelimeler: Ailesel Akdeniz ateşi, kolşisin, pirin
DOI :10.26650/B/CH32.2024.010.021   IUP :10.26650/B/CH32.2024.010.021    Tam Metin (PDF)

Follow-up and Community Care of the Child with Familial Mediterranean Fever

Fatma Gül Demirkan, Nuray Aktay Ayaz

Familial Mediterranean fever (FMF) is currently the oldest and most common of all hereditary periodic fever syndromes described. It is characterized by recurrent episodes of fever, abdominal, and chest or joint pain. FMF is associated with mutations in the MEFV gene, which encodes pyrin. Its diagnosis is based on clinical features. Periodic symptoms begin abruptly without any stimulus and often disappear spontaneously within 1–3 days. Attacks usually begin before the age of 20. Between attacks, a completely “healthy” period is observed in terms of clinical symptoms. The mainstay of treatment is colchicine given daily for a lifetime to prevent the recurrence of febrile attacks. Anti–inerleukin-1 agents are the second-line treatment option in patients who respond inadequately to colchicine. The most important cause of FMF morbidity and mortality is amyloidosis resulting in renal failure. Given that FMF often starts at an early age and is chronic, it emerges as an important health problem in childhood. In some children, heavy sports or prolonged standing can trigger attacks, which can be severe at times. Although diet modification is not required while under treatment or during their attacks, children using colchicine can possibly develop secondary lactose intolerance. Nonetheless, gastrointestinal system complaints can be controlled with a lactose-free diet. The following section discusses the follow-up of children with FMF, the effect of the disease on school life, immunization recommendations, and the psychosocial effects of FMF.


Anahtar Kelimeler: Familial Mediterranean fever, colchicine, pyrin

Referanslar

  • 1. Sag E, Bilginer Y, Ozen S. Autoinflammatory Diseases with Periodic Fevers. Curr Rheumatol Rep. 2017;19(7):41. google scholar
  • 2. Janeway TC, Mosenthal HO. An unusual paroxysmal syndrome, probably allied to recurrent vomiting,: with a study of the nitrogen metabolism. Arch Intern Med. 1908;II(3):214-25. google scholar
  • 3. Siegal S. Benign paroxysmal peritonitis. Gastroenterology. 1949;12(2):234-47. google scholar
  • 4. Heller H, Sohar E, Sherf L. Familial Mediterranean fever. AMA Arch Intern Med. 1958;102(1):50-71. google scholar
  • 5. Bernot A, Clepet C, Dasilva C, Devaud C, Petit JL, Caloustian C, et al. French FMF Consortium. A can-didate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25-31. google scholar
  • 6. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Medi-terranean fever. The International FMF Consortium. Cell. 1997;90(4):797-807. google scholar
  • 7. Özen S. Update on the epidemiology and disease outcome of Familial Mediterranean fever. Best Pract Res Clin Rheumatol. 2018;32(2):254-60. google scholar
  • 8. Ben-Chetrit E, Touitou I. Familial mediterranean Fever in the world. Arthritis Rheum. 2009;61(10):1447-53. google scholar
  • 9. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine. 2005;84(1):1-11. google scholar
  • 10. Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, et al. Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol. 1998;25(12):2445-9. google scholar
  • 11. Sönmez HE, Batu ED, Özen S. Familial Mediterranean fever: current perspectives. J Inflamm Res. 2016;9:13-20. google scholar
  • 12. Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ. 2007;14(8):1457-66. google scholar
  • 13. Dundar M, Fahrioglu U, Yildiz SH, Bakir-Gungor B, Temel SG, Akin H, et al. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. Funct Integr Genomics. 2022;22(3):291-315. google scholar
  • 14. Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet. 2007;71(5):458-67. google scholar
  • 15. Ozturk C, Halicioglu O, Coker I, Gulez N, Sutçuoglu S, Karaca N, et al. Association of clinical and gene-tical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey. Clin Rheumatol. 2012;31(3):493-501. google scholar
  • 16. Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol. 2003;30(1):185-90. google scholar
  • 17. Ben-Zvi I, Brandt B, Berkun Y, Lidar M, Livneh A. The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF). Gene. 2012;491(2):260-3. google scholar
  • 18. Kishida D, Nakamura A, Yazaki M, Oka K, Tsuchiya-Suzuki A, Ichikawa T, et al. Triggering factors for febrile attacks in Japanese patients with familial Mediterranean fever. Clin Exp Rheumatol. 2020;38 Suppl 127(5):76-9. google scholar
  • 19. Ozen S. Update in familial Mediterranean fever. Curr Opin Rheumatol. 2021;33(5):398-402. google scholar
  • 20. Tufan A, Lachmann HJ. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci. 2020;50(Si-2):1591-610. google scholar
  • 21. Yalçınkaya F, Özen S, Özçakar ZB, Aktay N, Çakar N, Düzova A, et al. A new set of criteria for the diag-nosis of familial Mediterranean fever in childhood. Rheumatology. 2009;48(4):395-8. google scholar
  • 22. Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, et al. Classification criteria for auto-inflammatory recurrent fevers. Annals of the Rheumatic Diseases. 2019;78(8):1025-32. google scholar
  • 23. Gezgin Yildirim D, Seven MB, Gönen S, Söylemezoğlu O. Erysipelas-like erythema in children with familial Mediterranean fever. Clin Exp Rheumatol. 2020;38 Suppl 127(5):101-4. google scholar
  • 24. Legeret C, Furlano R. Oral ulcers in children- a clinical narrative overview. Ital J Pediatr. 2021;47(1):144. google scholar
  • 25. Öztürk K, Coşkuner T, Baglan E, Sönmez HE, Yener GO, Çakmak F, et al. Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort. Front Pediatr. 2021;9:805919. google scholar
  • 26. Kavukcu S, Türkmen M, Soylu A, Kasap B, Tatli Güneş B. Skin and muscle involvement as presenting symptoms in four children with familial Mediterranean fever. Clin Rheumatol. 2009;28(7):857-60. google scholar
  • 27. Tufan G, Demir S. Uncommon clinical pattern of FMF: protracted febrile myalgia syndrome. Rheumatol Int. 2010;30(8):1089-90. google scholar
  • 28. Abbara S, Grateau G, Ducharme-Benard S, Saadoun D, Georgin-Lavialle S. Association of Vasculitis and Familial Mediterranean Fever. Front Immunol. 2019;10:763. google scholar
  • 29. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84(1):1-11. google scholar
  • 30. Sönmez HE, Esmeray P, Batu ED, Arıcı ZS, Demir S, Sağ E, et al. Is age associated with disease severity and compliance to treatment in children with familial Mediterranean fever? Rheumatol Int. 2019;39(1):83-7. google scholar
  • 31. Bilginer Y, Akpolat T, Ozen S. Renal amyloidosis in children. Pediatr Nephrol. 2011;26(8):1215-27. google scholar
  • 32. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med. 1967;43(2):227-53. google scholar
  • 33. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879-85. google scholar
  • 34. Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644-51. google scholar
  • 35. Ben-Zvi I, Krichely-Vachdi T, Feld O, Lidar M, Kivity S, Livneh A. Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control study. Orphanet J Rare Dis. 2014;9:3. google scholar
  • 36. Tanatar A, Karadağ Ş G, Sönmez HE, Çakan M, Aktay Ayaz N. Short-term follow-up results of children with familial Mediterranean fever after cessation of colchicine: is it possible to quit? Rheumatology (Ox-ford). 2019;58(10):1818-21. google scholar
  • 37. Sönmez HE, Aktay Ayaz N. Ailevi Akdeniz Ateşi Tanısı ile Takipli Hastalarda İlaç Uyumunun Hastalık Seyrine Etkisi. Acta Med Nicomedia. 2022;5 (1):8-11. google scholar
  • 38. Carroccio A, Mansueto P, Soresi M, Fayer F, Di Liberto D, Monguzzi E, et al. Wheat Consumption Leads to Immune Activation and Symptom Worsening in Patients with Familial Mediterranean Fever: A Pilot Randomized Trial. Nutrients. 2020;12(4). google scholar
  • 39. Ekinci RMK, Balci S, Bisgin A, Cetin FT, Tumgor G. The contribution of diet preference to the disease course in children with familial Mediterranean fever: a cross-sectional study. Reumatologia. 2020;58(2):81-6. google scholar
  • 40. Ulutaş F, Çobankara V, Karasu U, Kaymaz S, Albayrak Yaşar C, Dündar Ok Z. Evaluation of the controlling nutritional status score and prognostic nutritional index in patients with familial Mediterranean fever. Eur J Rheumatol. 2022;9(1):14-9. google scholar
  • 41. Kazem Y, Zarouk WA, Hamed K, Tosson AMS, Essa HA, El-Bassyouni HT. The Effect of Anti-inflam-matory Diet and Vitamin D Supplementation on the Amelioration of the Clinical Status and Cognitive functions of Familial Mediterranean Fever Patients. Kobe J Med Sci. 2021;66(5):E159-e65. google scholar
  • 42. Al-Daraji WI, Al-Mahmoud RM, Ilyas M. Gastric changes following colchicine therapy in patients with FMF. Dig Dis Sci. 2008;53(8):2079-82. google scholar
  • 43. Gemici AI, Sevindik Ö G, Akar S, Tunca M. Vitamin B12 levels in familial Mediterranean fever patients treated with colchicine. Clin Exp Rheumatol. 2013;31(3 Suppl 77):57-9. google scholar
  • 44. Başaran Ö, Nermin U. Kolşisin tedavisi altındaki ailevi akdeniz ateşi tanısı ile takip edilen çocuk hastalarda vitamin B12 düzeylerinin değerlendirilmesi. Güncel Pediatri. 2018;16(2):86-92. google scholar
  • 45. Heijstek MW, Ott de Bruin LM, Bijl M, Borrow R, van der Klis F, Kone-Paut I, et al. EULAR recommen-dations for vaccination in paediatric patients with rheumatic diseases. Ann Rheum Dis. 2011;70(10):1704-12. google scholar
  • 46. Jansen MHA, Rondaan C, Legger GE, Minden K, Uziel Y, Toplak N, et al. EULAR/PRES recommendati-ons for vaccination of paediatric patients with autoimmune inflammatory rheumatic diseases: update 2021. Ann Rheum Dis. 2022. google scholar
  • 47. Prevention CfDCa. Vaccine Recommendations and Guidelines of the ACIP Erişim: https://www.cdc.gov/ vaccines/hcp/acip-recs/general-recs/immunocompetence.html.Son erişim: 22.09.2022. google scholar
  • 48. Pittet LF, Posfay-Barbe KM. Immunization in transplantation: review of the recent literature. Curr Opin Organ Transplant. 2013;18(5):543-8. google scholar
  • 49. KDIGO clinical practice guideline for the care of kidney transplant recipients. Am J Transplant. 2009;9 Suppl 3:S1-155. google scholar
  • 50. Yenokyan G, Armenian HK. Triggers for attacks in familial Mediterranean fever: application of the case-c-rossover design. Am J Epidemiol. 2012;175(10):1054-61. google scholar
  • 51. Babaoglu H, Varan O, Atas N, Satis H, Salman R, Ozturk MA, et al. Detection of Familial Mediterranean Fever attacks by using a connected activity tracker and assessment of impact of attacks to daily physical activities: a pilot study. Clin Rheumatol. 2019;38(7):1941-6. google scholar
  • 52. Masatlioglu S, Dulundu E, Gogus F, Hatemi G, Ozdogan H. The frequency of familial Mediterranean fever in an emergency unit. Clin Exp Rheumatol. 2011;29(4 Suppl 67):S44-6. google scholar
  • 53. Kaşifoğlu T, Cansu DU, Korkmaz C. Frequency of abdominal surgery in patients with familial Mediterra-nean fever. Intern Med. 2009;48(7):523-6. google scholar
  • 54. San I, Erden A, Gemcioglu E, Kücüksahin O. Evaluation of inflammatory rheumatic diseases from an emergency medicine perspective. Int J Rheum Dis. 2020;23(12):1670-5. google scholar
  • 55. Süzen-Orhan E, Botan E, Gün E, Özen H, Gurbanov A, Balaban B, et al. Colchicine Poisoning Cases in a Pediatric Intensive Care Unit: A Twenty-Year Study. Pediatr Emerg Care. 2022;38(10):489-93. google scholar
  • 56. Ichimata S, Hata Y, Hirota K, Nishida N. Histopathology of acute colchicine intoxication: novel findings and their association with clinical manifestations. J Toxicol Pathol. 2022;35(3):255-62. google scholar
  • 57. Lidor I, Tiosano S, Sharif K, Amital H, Cohen AD, Amital D. The risk of depression and anxiety in patients with familial mediterranean fever - a cross-sectional study. J Affect Disord. 2021;292:695-9. google scholar
  • 58. Press J, Neumann L, Abu-Shakra M, Bolotin A, Buskila D. Living with a child with familial Mediterranean fever: does it affect the quality of life of the parents? Clin Exp Rheumatol. 2000;18(1):103-6. google scholar
  • 59. Koşan Z, Yılmaz S, Bilge Yerli E, Köyceğiz E. Evaluation of the Burden of Care and the Quality of Life in the Parents of Turkish Children with Familial Mediterranean Fever. J Pediatr Nurs. 2019;48:e21-e6. google scholar
  • 60. Sönmez A, Sönmez HE, Çakan M, Yavuz M, Keskindemirci G, Aktay Ayaz N. The evaluation of anxiety, depression and quality of life scores of children and adolescents with familial Mediterranean fever. Rheu-matol Int. 2020;40(5):757-63. google scholar
  • 61. Durcan G, Yildiz M, Kadak MT, Barut K, Kavruk Erdim N, Sahin S, et al. Increased frequency of sleep problems in children and adolescents with familial Mediterranean fever: The role of anxiety and depression. Int J Rheum Dis. 2020;23(10):1396-403. google scholar
  • 62. Makay B, Kiliçaslan SK, Anik A, Bora E, Bozkaya Ö, Çankaya T, et al. Assessment of sleep problems in children with familial Mediterranean fever. Int J Rheum Dis. 2017;20(12):2106-12. google scholar


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