Pulmonary Hypertension in Adult With Late-onset Glycogen Storage Disease Type Ⅱ(Pompe Disease):a Case Report
- VernacularTitle:成人晚发型糖原累积病Ⅱ型相关肺动脉高压一例
- Author:
Lixing HU
1
;
Qin LUO
1
;
Zhihui ZHAO
1
;
Li DENG
1
;
Tao YANG
1
;
Qing ZHAO
1
;
Zhihong LIU
1
Author Information
- Publication Type:Journal Article
- Keywords: glycogen storage disease type Ⅱ; adult late-onset; Pompe disease; GAA gene; pulmonary hypertension
- From: Chinese Circulation Journal 2025;40(8):813-815
- CountryChina
- Language:Chinese
- Abstract: Glycogen storage disease type Ⅱ,also known as Pompe disease,is an autosomal recessive metabolic myopathy with pulmonary hypertension as a rare complication.We reported a case of pulmonary hypertension in adult with late-onset glycogen storage disease type Ⅱ.Her arterial blood gas results indicated type Ⅱ respiratory failure,lung function indicated severe restricted ventilation dysfunction,sleep monitoring indicated severe sleep apnea hypopnea,severe nocturnal hypoxemia,echocardiography-derived systolic pulmonary pressure was 62 mmHg(1 mmHg=0.133 kPa),electromyography indicated myogenic lesion,and whole exon sequencing indicated GAA gene mutation.Supportive therapy and enzyme replacement therapy are applied in this patient.
