Acid maltase deficiency in adults. Diagnosis and management in five cases.
Acid maltase deficiency in adults. Diagnosis and management in five cases.
复制标题
成人酸性麦芽糖酶缺乏。
DOI：
10.1093/brain/108.4.845
复制
发表时间：
1985
期刊：
影响因子：
--
通讯作者：
A. Patrick
中科院分区：
文献类型：
--
作者：
P. Trend;C. Wiles;G. Spencer;J. A. Morgan;B. Lake;A. Patrick
五例成人发病酸性麦芽糖酶缺乏症的描述。所有患者在第二个十年晚期或第三个十年早期都出现了最初的骨盆带症状，几年后出现了呼吸功能不全的体征。他们通常身材高大，椎旁肌和臀肌无力，下肢无力。所有患者均为端坐呼吸，伴有明显的四肢无力。所有患者外周血淋巴细胞均可见特征性糖原空泡。4例中仅1例肌肉活检具有特征性，3例肌肉活检表现为轻微或非特异性特征。通过肌肉和培养的成纤维细胞中的酶测定证实了诊断。使用摇床或间歇性正压呼吸并气管造口术的长期呼吸辅助支持（25患者-年）使所有患者恢复工作，其临床状况保持稳定。
Five patients with adult onset acid maltase deficiency are described. All patients had developed their initial pelvic girdle symptoms late in the second or early in the third decade and some years later developed signs of respiratory insufficiency. Typically they were tall, had weak and wasted paraspinal and gluteal muscles with lower limb weakness. All were orthopnoeic with marked diaphragmatic weakness. In all patients characteristic glycogen vacuoles were seen in peripheral blood lymphocytes. Muscle biopsy was characteristic in only 1 out of 4 cases and showed minimal or nonspecific features in 3. The diagnosis was confirmed by enzyme assay in muscle and cultured fibroblasts. Long-term domiciliary ventilatory support (25 patient-years) using a rocking bed or intermittent positive pressure respiration with a tracheostomy has allowed a return to work in all patients, with their clinical condition remaining stable.