Noonan 증후군과 성장호르몬결핍증 환아에서 성장호르몬 치료 효과
Efficacy of Growth Hormone Treatment in Patients with Noonan syndrome and Growth Hormone Deficiency
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목 적:Noonan 증후군은 저신장, 선천성 심장 질환 및 특징적인 얼굴 모양을 보이며 염색체 검사상 정상 핵형을 보이는 질환이다. 본 연구에서는 Noonan 증후군 환아에서 성장호르몬 투여의 효과와 투여 중의 부작용을 조사하였고, 치료 시작 시기가 같은 성장호르몬결핍증을 대조군으로 하여 간접적으로 Noonan 증후군의 성장 장애의 원인을 성장호르몬 저항성의 가능성이 있다고 보고 성장 장애의 원인을 비교하고자 하였으며, 성장호르몬 투여 효과를 비교하였다. 방 법:2000년부터 2010년까지 세브란스병원 소아청소년과에 내원하여 Noonan 증후군으로 진단받은 환아 중 성장호르몬을 투여 받은 14명의 환아와 특발성 성장호르몬결핍증 환아 중 대상군과 같은 나이에 성장호르몬 투여를 시작한 환아 세배 수를 대조군으로 하여 3개월마다 신장, 체중을 측정하고, 6개월 마다 혈액 검사를 시행하였다. 결 과:Noonan 증후군 그룹에서 성장호르몬 치료 전 평균 신장은 123.3±13.5 cm, 평균 신장 SDS 는 -2.79±0.85 였고, 성장호르몬결핍증 그룹에서는 평균 119.6±13.5 cm, 평균 신장 SDS 는 -3.43±1.56 이었다. Noonan 증후군 그룹에서 평균 3.8±2.1 년, 성장호르몬결핍증 그룹에서 평균 4.9±2.4 년의 성장호르몬 치료 이후 평균 신장 SDS 는 각각 -2.79 SDS 에서 -1.94 SDS 로, -3.43 SDS 에서 -1.82 SDS 로 증가하였다. 또한 연성장 속도는 Noonan 증후군 그룹에서 성장호르몬 치료 전 3.7±1.2 cm/year 에서 치료 시작 1년 후 8.5±2.5 cm/year 로, 성장호르몬결핍증 그룹에서 3.4±1.5 cm/year 에서 8.8±2.3 cm/year 로 뚜렷한 증가를 보여주었다. 성장호르몬 치료 전과 후 평균 체질량지수는 Noonan 증후군 그룹에서 17.8±3.1 kg/m2에서 20.5±4.5 kg/m2로, 성장호르몬결핍증 그룹에서 17.5±3.4 kg/m2에서 20.3±4.1 kg/m2로 증가하였고, 간 기능이상이 Noonan 증후군 그룹에서 1례 관찰되었으며, 지질 검사 이상이 성장호르몬결핍증 그룹에서 3례 관찰되었으나, 암 발생, 전신 부종, 당뇨 등의 심각한 합병증은 관찰되지 않았다. 결 론:성장호르몬 치료는 성장호르몬결핍증에서 효과가 더 높았으나 Noonan증후군에서도 연성장 속도를 현저하게 증가시키며 비교적 효과적이고 안전한 치료로 생각된다.
Abstract
Purpose:Noonan syndrome (NS) is characterized by short stature, congenital heart defects, mild mental retardation, and characteristic faces. We investigated the efficacy of growth hormone (GH) treatment and the adverse effect compared to sex and age-matched patients with growth hormone deficiency (GHD). Methods:We included patients whose Noonan scores were over 60, treated with GH in Severance Children’s Hospital. We analyzed height and height velocity before and during GH treatment in 14 NS patients (0.81±0.13 U/kg/wk) and also in 42 patients with sex- and age-matched GHD as a control group (0.78±0.17 U/kg/wk) at intervals of 3 months. Results:At the start of GH treatment, mean age was 10.0±2.4 years, and mean height was 123.3±13.5 cm, and the height SDS was -2.79±0.85 in NS, while the mean age was 10.3±2.6 years, mean height was 119.6±13.5 cm, and the height SDS was -3.43±1.56 in GHD. Mean duration was 3.8±2.1 years in NS and 4.9±2.4 years in GHD. Mean height SDS increased from -2.79 SDS to -1.94 SDS in NS (P =0.007) and from -3.43 SDS to -1.82 SDS in GHD (P ˂0.0001). Growth velocity increased from 3.7±1.2 cm/yr to 8.5±2.5 cm/yr (P ˂0.0001) and 6.5±2.9 cm/yr (P =0.016) during the first and second years of GH treatment, respectively, in NS and from 3.4±1.5 cm/yr to 8.8±2.3 cm/yr (P ˂0.0001) and 8.1±3.2 cm/yr (P ˂0.0001) in GHD. No severe adverse effects were observed during treatment. Conclusion:GH treatment in the NS patients increased growth velocity significantly, especially during the 1st year of treatment. GH treatment in NS is thought to be effective and relatively safe.(J Korean Soc Pediatr Endocrinol 2011;16:100-105)
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