Cerini E, Bini M, Donati A, Andaloro L, Compagnoni G
UO Patologia Neonatale e TIN, AO C. Poma, Mantova.
Pediatr Med Chir. 2007 Sep-Oct;29(5):270-2.
Pompe's disease (PD) is a glycogen storage disease characterized by the deposition of glycogen within body cells. This may lead to severe cardiac hypertrophy, with heart failure. The authors describe a female infant with PD, who developed severe cardiac hypertrophy, and was treated with recombinant human enzyme replacement therapy. This approach led to a progressive reduction of the heart hypertrophy, with improvement of the clinical condition.
庞贝氏病（PD）是一种糖原贮积病，其特征是糖原在体内细胞内沉积。这可能导致严重的心脏肥大并伴有心力衰竭。作者描述了一名患有庞贝氏病的女婴，她出现了严重的心脏肥大，并接受了重组人酶替代疗法治疗。这种方法使心脏肥大逐渐减轻，临床状况得到改善。
