Konjenital Hipotiroidili Olguların Değerlendirilmesi: Ulusal Tarama Programının Etkisi

Yıl 2011, Cilt: 9 Sayı: 2, 28 - 33, 01.09.2011

Erdal Eren Halil Sağlam Aysel Zengin Yahya Gül Esra Deniz P. Çakır Taner Özgür Ömer Tarım

Öz

Giriş: Konjenital hipotiroidi KH önlenebilir mental retardasyonun en sık nedenidir.Hastalık belirti vermeden seyredebilmekte ve mental retardasyon gibi ağır komplikasyonlarla sonuçlanmaktadır. Bu nedenle ülkemizde Aralık 2006’dan itibaren KH tarama programı başlatılmış ve böylece erken tanı ve tedavi imkânı sağlanmış, olası komplikasyonlar önlenmiştir. Bu çalışmada Ulusal KH Tarama programının hastalığın seyriüzerindeki etkilerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Kliniğimizde KH nedeniyle izlenen 140 olgunun dosyaları retrospektifolarak incelendi. Programın öncesinde ve sonrasında KH tanısı alan olguların bulgularıkıyaslandı. Bulgular: Olguların 74’ü %52,9 kız, 66’sı %48,4 erkek idi. En sık başvuru nedenlerini;sarılık %32,1 , konstipasyon %32,1 , TSH yüksekliği nedeniyle sevk %25,7 ve büyümegeriliği %10,7 oluşturmaktaydı. Tiroid bezinin sintigrafik ve sonografik değerlendirmesine göre 32 olgu KH nedeni; %43,7 dishormonogenezis, %43,7 tiroid agenezisi, %12,6ektopik tiroid olarak saptandı. Tedavi başlama yaşı tarama programı öncesinde370,9±704,6 gün iken 108 olgu , sonrasında 35,2 gün±48,3 32 olgu olarak bulundu.Mental retardasyon tanısı alan 36 olgunun 35’i tarama öncesi tanı almıştı. Tarama sonrası tanı alan hastaların ortalama boy SDS’leri tarama öncesi grupla karşılaştırıldığındaanlamlı derecede daha iyiydi p=0,02 . Başvuruda ortalama serum TSH 144,8±227,1mIU/ml, TT4 4,92±4,44 mcg/dl, ST4 0,63±0,41 ng/l idi. Sonuç: Ulusal KH tarama programından sonra mental retardasyonlu olgu sayısının belirgin derecede azalması bu programın önemini bir kez daha göstermektedir

Anahtar Kelimeler

Konjenital, hipotiroidi, mental retardasyon, tarama programı

Evaluation of the Patients with Congenital Hypothyroidism: Effect of the National Screening Program

Öz

Introduction: Congenital hypothyroidism CH is the most common cause of preventablemental retardation. The course of the disease can be silent and may cause serious healthproblems when the diagnosis is delayed. “Screening Program for CH” has facilitated earlydiagnosis and treatment preventing severe complications. Materials and Method: The records of the 140 patients with CH were retrospectivelyanalyzed. The patients with CH were compared before and after the screening program. Results: Of the 140 cases, 74 52.9% were female and 66 48.4% were male. The clinicalpresentations of the patients with CH were jaundice 32.1% , constipation 32.1% , referraldue to high TSH 25.7% , and growth retardation 10.7% . The etiologies of CH based onscintigraphic imaging of the thyroid gland 32 cases were thyroid dyshormonogenesis in43.7%, thyroid agenesis in 43.7%, and ectopic thyroid in 12.6%. The mean age at diagnosiswas 292±632 days 370.9±704.6 days before screening, 35.2±48.3 days after screening . Atotal of 36 patients were diagnosed with mental retardation 35 were diagnosed prior toscreening . Mean height SDS of patients diagnosed after screening program was significantly higher than that of those diagnosed before screening program p=0.02 . Mean serum TSH, TT4, and FT4 at admission were 144.8±227.1 mIU/ml, 4.92±4.44mcg/dl, and 0.63±0.41 ng/L, respectively. Conclusions: Significant reduction in the number of patients with mental retardation after the screening program shows once

Anahtar Kelimeler

Congenital, hypothyroidism, mental retardation, screening program

Kaynakça

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