title: Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
abstract: We report 4 cases of late onset glycogen storage disease type II (GSD II) or Pompe disease (OMIM #232300), under enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rh-GAA, OMIM *606800). In these 4 cases, we focused on the case of a 28-years-old man, whose condition at the ERT starting was the worst and resulted in poor prognosis. The autopsy was done under his family's permission, and revealed severe accumulation of glycogen in his muscle, especially diaphragm or iliopsoas, and pulmonary veno-occlusive disease (PVOD) which resulted in severe pulmonary hypertension (PH). This is the first report of PVOD as the cause of PH in Pompe disease. We studied this case comparing to another 3 cases of late onset Pompe disease under the same course of ERT in our hospital, and the average data of the group of late onset Pompe disease with severe pulmonary insufficiency receiving ERT, supposed that low score of the body mass index (BMI) on the baseline, the presence of specific genotype (p.R600C), and signs of pulmonary dysfunction suggesting PH (tachypnea, ultrasound cardiography data) were factors that influenced the prognosis. For a better prognosis in the late onset Pompe disease, an early diagnosis for the early start of ERT before the onset of respiratory failure should be important, and the deliberate management and care should be needed even after the ERT start, especially for severe cases including pulmonary dysfunction.
authors.affiliation: Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, 3-5-28 Nishi-Shinbashi, Minato-ku, Tokyo, Japan. hrkb@jikei.ac.jp
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Yohta
authors.initials: Y
authors.lastname: Shimada
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ikegami
authors.forename: Toshinao
authors.initials: T
authors.lastname: Kawai
authors.forename: Ken
authors.initials: K
authors.lastname: Sakurai
authors.forename: Takashi
authors.initials: T
authors.lastname: Urashima
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ijima
authors.forename: Masako
authors.initials: M
authors.lastname: Fujiwara
authors.forename: Eiko
authors.initials: E
authors.lastname: Kaneshiro
authors.forename: Toya
authors.initials: T
authors.lastname: Ohashi
authors.forename: Yoshikatsu
authors.initials: Y
authors.lastname: Eto
authors.forename: Keiko
authors.initials: K
authors.lastname: Ishigaki
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Sandra Obikawa
authors.initials: SO
authors.lastname: Kyosen
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ida
mesh_terms: D000293:Adolescent; D000328:Adult; D001344:Autopsy; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D017809:Fatal Outcome; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000201:enzymology* / Q000628:therapy*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology; D008297:Male; D011379:Prognosis; D011668:Pulmonary Veno-Occlusive Disease / Q000150:complications; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases