Lin Shuan-Pei, Shih Shou-Chuan, Chuang Chih-Kuang, Lee Kuo-Sheng, Chen Ming-Ren, Niu Dau-Ming, Chiu Pao Chin, Lin Shio Jean, Lin Hsiang-Yu
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Early Infant Care and Education, Mackay Medicine, Nursing and Management College, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
Pediatr Pulmonol. 2014 Mar;49(3):277-84. doi: 10.1002/ppul.22774. Epub 2013 Feb 8.
The mucopolysaccharidoses (MPS) comprise a group of inherited lysosomal storage disorders characterized by deficiencies in enzymes catalyzing the degradation of glycosaminoglycans. Impairment of pulmonary function is an important health problem for patients with MPS. However, there are few published reports on the prevalence and severity of pulmonary dysfunction in relation to age and treatment in this disorder.
To evaluate pulmonary function in patients with MPS, we performed spirometry in 35 patients (22 males and 13 females; 1 with MPS I, 12 with MPS II, 16 with MPS IVA, and 6 with MPS VI; mean age, 14.6 ± 5.9 years; age range, 6.4 years to 33 years). Forced vital capacity (FVC), forced expired volume in 1 sec (FEV1), FEV1 to FVC ratio (FEV1/FVC), peak expiratory flow (PEF), and mean forced expiratory flow during the middle half of FVC (FEF25-75% ) were measured.
Mean FVC, FEV1 , PEF, and FEF25-75% were 74.2%, 73.9%, 64.7%, and 37.1% of the predicted values, respectively. By spirometric classification, 32 patients (91%) had small airway disease (FEF25-75% < 65%), 17 (48%) had restrictive lung disease, and 3 (9%) had obstructive lung disease. Percent predicted FVC, FEV1 , and PEF, as well as FEV1 /FVC, were all negatively correlated with age (P < 0.01), such that pubertal and post-pubertal patients had significantly lower values than younger patients. Of eight attenuated MPS II and VI patients who underwent follow-up pulmonary function testing after receiving enzyme replacement therapy (ERT) for 1.5-7.4 years, six showed improvements in % predicted FVC and five improved in % predicted FEV1 .
Our additional characterization of the types and prevalence of pulmonary function abnormalities seen in MPS patients should be useful for clinical care.
黏多糖贮积症（MPS）是一组遗传性溶酶体贮积病，其特征是催化糖胺聚糖降解的酶存在缺陷。肺功能损害是MPS患者的一个重要健康问题。然而，关于该疾病中肺功能障碍的患病率及严重程度与年龄和治疗的关系，鲜有发表的报告。
为评估MPS患者的肺功能，我们对35例患者（22例男性和13例女性；1例MPS I型、12例MPS II型、16例MPS IVA型和6例MPS VI型；平均年龄14.6±5.9岁；年龄范围6.4岁至33岁）进行了肺活量测定。测量了用力肺活量（FVC）、第1秒用力呼气容积（FEV1）、FEV1与FVC比值（FEV1/FVC）、呼气峰值流速（PEF）以及FVC中间一半时段的平均用力呼气流量（FEF25-75%）。
平均FVC、FEV1、PEF和FEF25-75%分别为预测值的74.2%、73.9%、64.7%和37.1%。根据肺活量测定分类，32例患者（91%）有小气道疾病（FEF25-75%<65%），17例（48%）有限制性肺病，3例（9%）有阻塞性肺病。预测的FVC、FEV1和PEF百分比以及FEV1/FVC均与年龄呈负相关（P<0.01），因此青春期及青春期后的患者的值显著低于年轻患者。在接受1.5 - 7.4年酶替代疗法（ERT）后接受随访肺功能测试的8例病情缓解的MPS II型和VI型患者中，6例预测FVC百分比有所改善，5例预测FEV1百分比有所改善。
我们对MPS患者肺功能异常类型和患病率的进一步描述应有助于临床护理。
