• 대한유전성대사질환학회지
• /
• 제13권2호
• /
• pp.111-119
• /
• 2013

목적: I형 뮤코다당증 (MPS I)은 ${\alpha}$-L-iduronidase 효소의 결핍으로 인하여 발생하는 리소좀 축적 질환으로, 광범위한 양상으로 다기관에 영향을 미친다. 저신장과 성장 속도의 감소는 MPS I의 중요한 특징이다. 본 연구에서는 효소 보충 요법이 MPS I 환자들의 성장에 미치는 효과에 대해 알아보기 위하여 단일 기관의 환자들을 대상으로 분석하였다. 방법: 2세에서 15세 사이에 효소 보충 요법을 시작하여 최소 3년 이상의 치료를 시행 받은 10명의 한국 MPS I 환자들의 키 측정치를 후향적으로 분석하였다. 효소 보충 요법 시작시의 평균 나이는 7년 7개월 이였으며, 남아는 6명, 여아는 4명 이였다. 키는 표준 편차(SDS)로 표현되었다. 효소 보충 요법 전과 후의 연간 성장 속도를 계산하였으며, 구분회귀모델을 이용하여 치료 전과 후의 키 z-score를 분석하였다. 표현형[(중증(Hurler) versus 경증(Hurler-Scheie, Scheie)]이 성장에 미치는 영향에 대해서는 개별 분석을 시행하였다. 결과: 효소 보충 요법 전 1년 동안의 연간 성장은 3.3 cm (z-score=-0.21) 였으며, 효소 보충 요법 후 1년, 2년, 3년에서는 각각 6.2 cm (z-score=0.17), 5.8 cm (z-score=0.07), 3.8 cm (z-score=-0.4)이였다. 회귀분석 결과, 효소 보충 요법 전에 비하여 치료 후 기울기에 유의한 호전을 보였다(기울기 차이=0.04; P=0.022). 중증과 경증 표현형 간의 치료 전(P=0.001)과 후(P<0.0001)의 기울기 차이는 통계적으로 유의하였으나, 표현형에 따라 분석하였을 때 통계적으로 유의한 차이는 보이지 않았다. 결론: MPS I 환자들의 키 성장에 있어 aldurazyme 효소 보충 요법이 긍정적인 효과를 미치는 것으로 보인다.

• 대한유전성대사질환학회지
• /
• 제10권1호
• /
• pp.59-66
• /
• 2010

Enzyme replacement of therapy (ERT) is one of the most promising therapeutic strategies for the treatment of lysosomal storage disorders. ERT is available in three types of Mucopolysaccharidosis (MPS): for MPS I (Aludrazyme$^{(R)}$), MPS II (Elaprase$^{(R)}$) and MPS VI (Naglazyme$^{(R)}$) patients who are over 5 years old. But recently, early diagnosis can be done by expert clinicians and even in prenatal case. We describe the case of ERT under 5 years old MPS patients. Up to June, 2010 in Samsung Medical Center, there are 6patients who were diagnosed as MPS and started ERT under 5 years old. 3 patients were MPS I, 3 patients were MPS II. 2 patient who was diagnosed as MPS I was female and others were male. Their age at diagnosis were 4 to 37month-old (4, 13, 16, 25, 27, 37 month-old) and they are now 9 to 60 month-old (9, 39, 32, 81, 60 month-old). The youngest patient was started ERT at 4 month-old and others were started at their 13 to 49 month-old (13, 29, 27, 28, 49 month-old). First manifested symptoms of patients were macrocephaly, kyphosis and coarse face appearance. Especially, in 2 of them, one was MPS I and the other was MPS II had elder brother with same disease. And the youngest one was diagnosed by the iduronate-2-sulfatase (IDS) gene analysis from chorionic villi sampling. His mother knew that she was a heterozygous carrier of IDS gene mutation because her younger brother died from MPS II. All of them confirmed as MPS by the enzyme assay in leukocytes and fibroblast skin culture. We started ERT with ${\alpha}$-L-iduronidase(Aldurazyme$^{(R)}$) to MPS I and did recombinant human iduronate-2-sulfatase (Elaprase$^{(R)}$) to MPS II patients as recommended dose as over 5 years old. But for MPS II patient who was 4 month old, we started ERT by recombinant human IDS (Elaprase$^{(R)}$) with reduced dose 0.1 mg/kg and increased dose every 2 weeks by 0.1mg/kg up to 0.5mg/kg IV infusion. During ERT, all patients had no adverse effects and the excretion of GAGs were decreased. We have evaluated other clinical symptoms such as liver/ spleen volume, heart function and neurologic evaluation. We describe a successful ERT to MPS I and MPS II patient under 5 years old without any adverse event. It indicates that ERT in young children are well tolerated and that it has several effects which may confer clinical benefits with long-term therapy.