Primer immün yetmezlikli olgularımızın retrospektif değerlendirilmesi

Amaç : Bu çalışmada, kliniğimizde primer immün yetmezlik ta nısıyla izlenen hastaların klinik ve demografik özelliklerinin değerlendirmesi amaçlandı. Gereç ve Yöntem: Şubat 2008 -Mart 2014 tarihleri arasında pediatrik allerji ve immünoloji bölümünde primer immün yetmezlik tanısı konulan toplam 78 hastanın dosya kayıtları retrospektif olarak incelendi. Bulgular: Hastalarımızın %61.5’i (n=48) erkek, %38.5’i (n=30) kız idi. Hastaların tanı yaşları 5.4 ± 4.0 (0.4 -19) yıl ve şikayetlerinin başladığı yaş ise 3.0 ± 2.9 (0.1 -15) yıl olarak tespit edildi. Başvuru sebepleri sırasıyla; tekrarlayan alt solunum yolu enfeksiyonu %65.4 (n=51), üst solunum yolu enfeksiyonu %55.1 (n=43), gastroenterit %16.7 (n=13), oral kandidiyazis %9 (n=7), tekrarlayan idrar yolu enfeksiyonu %6.4 (n =5) ve egzema %6.4 (n=5) oranında kaydedildi. Hastalarımızın %71.8’ini (n=56) antikor eksikliğine bağlı immün yetmezlikler içermekteydi. Diğer iyi tanımlanmış immün yetmezlik sendromları %10.3 (n=8), ağır kombine immün yetmezlikler %7.7 (n=6), diğer immün yetmezlikler %3.8 (n=3), kompleman eksiklikleri %3 .8 (n=3) ve fagositik sistem bozuklukları ise %1.3 (n= 1) oranında idi. Sonuç: Ülkemizde akraba evliliği oranının yüksek olmasından dolayı, primer immün yetmezlik hastalıkları sık görülmektedir. İmmün yet mezliklere bağlı komplikasyonların azaltılabilmesi için hekimlerin erken tanı ve tedavi açısından dikkatli olması gerekmektedir.

The retrospective evaluation of children with primary immunodeficiency disease

Objective: In this study, we aimed to investigate of clinical and demographic characteristics in children with the diagnosis of primary immunodeficiency our clinic. Material and Method : The medical records of 78 patients with primary immunodeficiency who are followed by departme nt of pediatric immunology and allergy between February 2008 and March 2014 were evaluated retrospectively. Results: 61.5% (n=48) of the patients were boys and 38.5% (n=30) were girls. The mean age at the diagnosis was 5.4 ± 4.0 (0.4 -19) years, the mean age at the beginning of symptoms was 3.0 ± 2.9 (0.1 - 15) years. The clinical presentations were lower respiratory tract infections 65.4% (n=51), upper respiratory tract infections 55.1% (n=43), gastroenteritis 16.7% (n=13), oral candidiasis 9% (n=7), recurrent urinary tract infections 6.4% (n=5), and eczema 6.4% (n=5), respectively. 71.8% of patients (n=56) had immunodeficiency due to antibody deficiency. The ratios of the other immunodeficiencies were other well -defined immunodeficiency syndromes 10.3% (n=8 ), severe combined immunodeficiency 7.7% (n=6), other immune deficiencies 3.8% (n=3), complement deficiency 3.8% (n=3), and defects of phagocytic system 1.3 % (n=1). Conclusion: The incidence of primary immunodeficiency is high in our country, due to the high rate of consanguineous marriages . We thought that physician must becareful in terms of early diagnosis and treatment is necessary for reducing the complications due to immune deficiency.

Kaynakça

1. Primary immunodeficiency diseases. Report of an IUIS scientific committee. International Union of Immunological Societies. ClinExpImmunol 1999; 118: 1 - 28.

2. Puck JM. Primary immunodeiciency diseases. J AMA 1997; 278: 1835 -41.

3. Fischer A. Primary immunodeficienc y diseases: An experimental model for molecular medicine. Lancet 2001; 357: 1863 - 9.

4. Buckley RB. Primary ımmunodeficiency diseases. In: Adkinson NF, Holgate ST, Bochner BS, Lemanske RF, Buse W, Simons FE (eds). Middleton’s Allergy Principles and Practice. 7 th ed. China, Elsevier, 2009 ; 801 -29.

5. Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Imunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007; 120: 776 -94.

6. Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005; 94: 1 - 63.

7. de Vries E. Clinical Working Party of the European Society fo r Immuno deficiencies (ESID) Patient- centred screening for primary immunodeficiency: a multi- stage diagnostic protocol designed for non -immunologists. Clin Exp Immunol 2006: 204 - 14.

8. Al -Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency disea ses: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014; 5: 1 -33.

9. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencie s. Representing PAGID (Pan - American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999; 93: 190- 7.

10. Tezcan I, Berkel AI, Ersoy F, Sanal O. Sağlıklı Türk çocukları ve erişkinlerde turbidimetrik yöntemle bakılan serum immunoglobulin düzeyleri. Çocuk Sağlığı ve Hastalıkları Dergisi 1996; 39: 649 -56.

11. Yorulmaz A, Artaç H, Kara R, Reisli İ. Primer immune yetmezlikli 1054 olgunun retrospektif değerlendirilmesi. AstımAlerji İmmünoloji 2008 ; 6: 127 -34.

12. Luzi G, Pesce AM, Rinaldi S. Primary immunodeficiencies in Italy. Data revised from the Italian Register of Immunodeficiencies-IRID (1977 -88). Allergol Immunopathol (Madr) 1991; 19: 53 -7.

13. Matamoros Florí N, Mila Llambi J, Español Boren T, Raga Borja S, Fontan Casariego G. Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults. J Clin Immunol 1997; 17: 333 -9.

14. Baumgart KW, Britton WJ, Kemp A, French M, Roberton D. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol 1997; 100: 415 -23.

15. Aghamohammadi A, Mohammadinejad P, Abolhassani H, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. J Clin Immunol 2014; 34: 478 - 90.

16. Kilic SS, Ozel M, Hafizoglu D, Karaca NE, Aksu G, Kutukculer N. The prevalences and patient characteristics of primary immunodeficiency diseases in Turkey - two centers study. J Clin Immunol 2013; 33: 74 -83.

17. Eades-Perner AM, Gathmann B, Knerr V, et al. ESID Registry Working Party. The European internet -based patient and research data base for primary immunodeficiencies: results 2004 -06. Clin Exp Immunol 2007; 147: 306 -12.

18. Leiva LE, Zelazco M, Oleastro M, et al. Latin American Group for Primary Immunodeficiency Di seases. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol 2007; 27: 101 - 8.

19. Forte WC, Menezes MC, Dionigi PC, Bastos CL. Different clinical and laboratory evolutions in ataxia -telangiectasia syndrome : report off our cases. Allergol Immunopathol 2005; 33: 199 -203.

20. Meyts I, Weemaes C, De Wolf- Peeters C, et al. Unusual and severe disease course in a child with ataxia - telangiactasia. Pediatr Allergy Immunol 2003; 14: 330- 3.

21. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol 2007; 27: 517 -24.

22. Chen CF, Wu KG, Hsu MC, Tang RB. Prevalence and relationship between allergic diseases and infectious diseases. J Microbiol Immunol Infect 2001; 34: 57 -62.

23. de Mora es Lui C, Oliveira LC, Diogo CL, Kirschfink M, Grumach AS. Immunoglobulin G subclass concentrations and infections in children and adolescents with severe asthma. Pediatr Allergy Immunol 2002; 13: 195 - 202.

24. Costa Carvalho BT, Nagao AT, Arslanian C, et al. Immunological evaluation of allergic respiratory children with recurrent sinusitis. Pediatr Allergy Immunol 2005; 16: 534 -8.

25. Mısırlıoğlu ED, Giniş T, Doğru M, ve ark. Allerji kliniğinde izlenen hastalarda primer antikor eksiklikleri. Türkiye Çocuk Hast Derg 2010; 4: 219 - 3.

26. Genel F, Can D, Yılmaz N, ve ark. Antikor eksikliği olan çocuklarda allerji sıklığı. Asthma Allergy Immunol 2009; 7: 174 - 9.

27. Kutukculer N, Karaca NE, Demircioglu O, Aksu G. Increases in serum immunoglobulins to age -related normal levels in children with IgA and/or IgG subclass deficiency. Pediatr Allergy Immunol 2007; 18: 167 -73.

28. Arason GJ, Jorgensen GH, Ludviksson BR. Primary immunodeficiency and autoimmunity: lessons from human diseases. Scand J Immunol 2010; 71: 317 -28.

29. Carneiro -Sampaio M , Coutinho A. Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies. Adv Immunol 2007; 95: 51 -82.

30. de Gracia J, Vendrell M, Alvarez A, et al. Immunoglobulin the rapy to control lung damage in patients with common variable immunode ficiency. Int Immuno pharmacol 2004; 4: 745 -53.

Kaynak Göster