講演情報
[P23-5]乳児型ポンペ病に対するアバルグルコシダーゼアルファ使用経験
○樋口 真司1, 岩田 康平1, 渡部 瑤1, 山田 勇気1, 門屋 卓己2, 藤野 光洋2, 江原 英治2, 森 潤1 (1.大阪市立総合医療センター 小児代謝・内分泌内科, 2.大阪市立総合医療センター 小児循環器内科)
【Introduction】 Pompe disease (PD) is an autosomal recessive lysosomal disease caused by glycogen accumulation due to an abnormality in acid alpha-glucosidase. Infantile PD causes hypertrophic cardiomyopathy, hypotonia, and malfeeding. We report here our experience with the administration of avalglucosidase alfa after a diagnosis of infantile PD.
【Case】A one-day-old boy was admitted to our hospital because of malfeeding and mild thickening of the myocardium. He was discharged at 29 days of age after improvement in feeding problems. However, he was admitted to our hospital for treatment because of his marked thickening of the myocardium and poor suckling on day 92. On admission, the patient had heart failure. His CK level was 4109 IU/L. Oxygen, beta-blockers, and diuretics were initiated. PD was suspected, and genetic testing showed one pathological variant previously reported and another VUS variant in the GAA gene. In addition, the enzyme activity in the dried-blood spot was low. We diagnosed him with infantile PD. The patient was immediately treated with avalglucosidase alfa. Symptoms of heart failure and myocardial thickening improved markedly after 1-month of treatment. The patient also showed improvement in myocardial hypotonia and turned over at 6 months. The myocardial thickening, hypotonia, and malfeeding were markedly improved by avalglucosidase alfa. This is the first case in the world in which a naive patient was treated with avalglucosidase alfa.
【Conclusion】Avalglucosidase alfa may improve myocardial hypertrophy, hypotonia, and malfeeding in infantile PD.
【Case】A one-day-old boy was admitted to our hospital because of malfeeding and mild thickening of the myocardium. He was discharged at 29 days of age after improvement in feeding problems. However, he was admitted to our hospital for treatment because of his marked thickening of the myocardium and poor suckling on day 92. On admission, the patient had heart failure. His CK level was 4109 IU/L. Oxygen, beta-blockers, and diuretics were initiated. PD was suspected, and genetic testing showed one pathological variant previously reported and another VUS variant in the GAA gene. In addition, the enzyme activity in the dried-blood spot was low. We diagnosed him with infantile PD. The patient was immediately treated with avalglucosidase alfa. Symptoms of heart failure and myocardial thickening improved markedly after 1-month of treatment. The patient also showed improvement in myocardial hypotonia and turned over at 6 months. The myocardial thickening, hypotonia, and malfeeding were markedly improved by avalglucosidase alfa. This is the first case in the world in which a naive patient was treated with avalglucosidase alfa.
【Conclusion】Avalglucosidase alfa may improve myocardial hypertrophy, hypotonia, and malfeeding in infantile PD.