Kistik Fibrosisli Çocuklarda Tiroid Fonksiyon Testleri: Tiroid Disfonksiyonu Bu Hastalarda Tahmin Edilenden Daha mı Fazla?

Öz

Amaç: Kistik fibrozis progresif akciğer hasarı, kronik solunum yolu enfeksiyonları, büyüme geriliği ve erken ölüme neden olan sindirim ve solunum disfonksiyonu ile karakterize multistemik, hayatı kısıtlayan, otozomal resesif genetik bir hastalıktır. Kistik fibrozis ekzokrin panreatik yetmezlik, büyüme geriliği, kemik hastalıkları, hipogonodism ve tiroid hastalıklarını kapsayan bazı önemli endokrin anormalliklere neden olabilmektedir. Bu çalışmada amaç, kistik fibrozisli çocuklarda tiroid disfonksiyonu prevelansını araştırmak ve bu hastaların genel karakteristiklerini belirlemektir.Gereç ve Yöntemler: Çalışma, Ocak 2015-Haziran 2015 tarihleri arasında yapılmıştır. Toplam 42 kistik fibrozisli hasta (20 erkek, 22 kız) çalışmaya alınmıştır. Demografik, klinik, laboratuvar ve radyolojik bulgular, ilaç kullanımı, genetik analizler dosya kayıtlarından elde edilmiştir. Serum fT4, fT3 ve TSH düzeyleri kemilüminesans immunoassay yöntemiyle DxI800 autoanalyzer (Beckman Coulter Inc, CA, USA) kullanılarak ölçülmüştür.Bulgular: Çalışma populasyonunda tanı anındaki ortalama yaş 2.9±4.4 (yıl)’di. TSH, fT4 ve fT3 değerleri ölçülen 42 hastanın 8 tanesi (%19) anormal TSH ve Ft4 düzeyine (2 aşikar hipotroidi, 6 subklinik hipotoridi) sahipti. Tiroid disfonksiyonu olan hastaların 5 tanesi (%62.5) tiroid hormon replasman tedavisi almaktaydı.Sonuç: Çalışmamızda ilk defa Türkiye’de kistik fibrozisli hastalar tiroid disfonksiyonu açısından değerlendirilmiştir. Çalışma populasyonumuzda tiroid disfonksiyonu olan 8 (%19) hasta saptadık ve bunların 5 tanesi (% 62.5) L-tiroksin tedavisi almaktaydı. Kistik fibrozisli hastalarda hipotiroidi ile ilişkili problemleri önlemek amacıyla düzenli tiroid fonksiyon testleri değerlendirmesinin bu hastalarda gerekli olduğu kanaatindeyiz.

Anahtar Kelimeler

• Çocuk, Kistik fibrosis, L-Tiroksin, Tiroid disf

Thyroid Function Tests in Children with Cystic Fibrosis: Is Thyroid Dysfunction more Common than Estimated in These Patients?

Öz

Objective: Cystic fibrosis (CF) is a life-limiting, multisystemic, autosomal recessive genetic disorder that is characterized by digestive and respiratory dysfunction contributing to growth deficit, chronic respiratory infections, progressive lung tissue damage, and premature death. CF patients have several important endocrine abnormalities including exocrine pancreatic insufficiency, poor linear growth, bone diseases, hypogonadism and thyroid dysfunction. In the present study, we aimed to investigate the prevalence of thyroid dysfunction in children with CF and evaluate the general characteristics of these patients in Turkey.Material and Methods: The study was conducted between January 2015 and June 2015. A total of 42 patients (20 male, 22 female) with CF were included in the study. Demographic information; clinical, laboratory and radiological findings; medication use, and genetic analyses were assessed from the medical records. The serum fT4, fT3 and TSH levels were measured by chemiluminescence immunoassay using a DxI800 autoanalyzer (Beckman Coulter Inc., CA, USA). Results: The mean age at the time of diagnosis of CF was 35.5±53.2 months in the study population. Eight of the 42 (19%) patients whose TSH, fT4 and fT3 levels were measured had abnormal TSH and fT4 levels (two overt hypothyroidism and six subclinical hypothyroidism). Five (62.5%) of the subjects with thyroid dysfunction were receiving thyroid hormone replacement therapy. Conclusion: Our study presents the first evaluation of the patients with CF for thyroid dysfunction in Turkey. In our study population, we detected eight (19 %) CF patients with thyroid dysfunction and five (62.5%) of them were receiving L-thyroxine treatment. In our opinion, regular evaluation of thyroid function tests in patients with CF may be necessary to prevent problems associated with hypothyroidism

Anahtar Kelimeler

• Children, Cystic fibrosis, L-thyroxine, Thyroid dysfunction

Kaynakça

1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 1989; 245:1066-73.
2. Davis PB. Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006;173:475-82.
3. Devuyst O, Golstein PE, Sanches MV, Piontek K, Wilson PD, Guggino WB, et al. Expression of CFTR in human and bovine thyroid epithelium. Am J Physiol 1997;272:1299-308.
4. Blackman SM, Tangpricha V. Endocrine disorders in cystic fibrosis. Pediatr Clin North Am 2016;63:699-708.
5. Dolan TF, Gibson LE. Complications of iodine therapy in patients with cystic fibrosis. J Pediatr 1971;79:684–7.
6. Segall-Blank M, Vagenakis AG, Shwachman H, Ingbar SH, Braverman LE. Thyroid gland function and pituitary TSH reserve in patients with cystic fibrosis. J Pediatr 1981;98:218–22.
7. De Luca F, Trimarchi F, Sferlazzas C, Benvenga S, Costante G, Mami C, et al. Thyroid function in children with cystic fibrosis. Eur J Pediatr 1982;138:327-30.
8. Kauf E, Dawczynski H, Jahreis G, Janitzky E, Winnfeld K. Sodium selenite therapy and thyroid hormone status in cystic fibrosis and congenital hypothyroidism. Biol Trace Elem Res 1994;40:247–53.

9. Volta C, Street ME, Ziveri MA, Bonelli P, Spaggiari C, Grzincich GL, et al. Thyroid function, cytokine and IGF-IGFBP interactions in cystic fibrosis patients. Horm Res 2005;63:206–10.
10. Tas F, Bulut S, Egilmez H, Oztoprak I, Ergur AT, Candan F. Normal thyroid volume by ultrasonography in healthy children. Ann Trop Paediatr 2002; 22: 375-9.
11. Miller MR, Hankinson J, Brusasco V, Burgos F, Casaburi R, Coates A, et al. Standardisation of spirometry. Eur Respir J 2005; 26:319- 38.
12. Kelly T, Buxbaum J. Gastrointestinal manifestations of cystic fibrosis. Dig Dis Sci 2015;60:1903-13.
13. Gelfond D, Borowitz D. Gastrointestinal complications of cystic fibrosis. Clin Gastroenterol Hepatol 2013;11:333-42.
14. J Stuart Elborn. Cystic fibrosis. Lancet 2016;388:2519-31.
15. Elborn JS, Shale DJ, Britton JR. Cystic fibrosis: Current survival and population estimates to the year 2000. Thorax 1991;46:881– 5.
16. Burgel PR, Bellis G, Olesen HV, Viviani L, Zolin A, Blasi F, et al. Future trends in cystic fibrosis demography in 34 European countries. Eur Respir J 2015;46:133–41.
17. Azizi F, Bentley D, Vagenakis A, Portnay G, Bush JE, Shwachman H, et al. Abnormal thyroid function and response to iodides in patients with cystic fibrosis. Trans Assoc Am Physicians 1974; 87:111–9.
18. Li H, Ganta S, Fong P. Altered ion transport by thyroid epithelia from CFTR(–/–) pigs suggests mechanisms for hypothyroidism in cystic fibrosis. Exp Physiol 2010;95:1132-44.
19. Naehrlich L, Do¨rr H-G, Bagheri-Behrouzi A, Rauh M. Iodine deficiency and subclinical hypothyroidism are common in cystic fibrosis patients. J Trace Elem Med Biol 2013;27:122-5.
20. Turkey. In our opinion, regular evaluation of thyroid function in Hardin DS. Growth problems and growth hormone treatment in children with cystic fibrosis. J Pediatr Endocrinol Metab 2002;15:731-5.
21. Stark LJ, Quittner AL, Powers SW, Opopari-Arrigan L, Bean JA, Duggan C, et al. Randomized clinical trial of behavioral intervention and nutrition education to improve calorie intake and weight in children with cystic fibrosis. Arch Pediatr Adolesc Med 2009;163: 915-21.
22. Scaparrotta A, Di Pillo S, Attanasi M, Consilvio NP, Cingolani A, Rapino D, et al. Growth failure in children with cystic fibrosis. J Pediatr Endocrinol Metab 2012; 25:393-405.
23. Leonard A, Davis E, Rosenstein BJ, Zeitlin PL, Paranjape SM, Peeler D, et al. Description of a standardized nutrition classification plan and its relation to nutritional outcomes in children with cystic fibrosis. J Pediatr Psychol 2010;35:6-13.
24. mutation analysis in clinical practice. J Cyst Fibros 2008;7:179-96.