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Ureterolithotripsy under Spinal Anesthesia in pompe disease (Glycogen Storage disease Type 2): A Case Report

Open Journal of Anesthesiology 2013年第2期3卷 61-63页

作者： Arzu Acar Mustafa Nuri Deniz Elvan Erhan Gulden Ugur Department of Anaesthesiology and Reanimation School of MedicineEge UniversityIzmirTurkey.

pompe disease is an autosomal recessive inherited glycogen storage disease, usually respiratory muscles, cardiac muscle and skeletal muscles are affected in childhood and mortality is inevitable but has a slower progression in the adult. The patient was a 35-year-old male patient who was scheduled to undergo ureterorenoscopy due to right ureteral stone. He was diagnosed with pompe disease after detection of myopathy on EMG due to muscle weakness in the legs and hips. He was started on myozyme vials once every 15 days. Spinal anesthesia with 3 ml 0.5% hyperbaric bupivacaine was performed and adequate sensorial and motor block was achieves at T10 level. The surgery was completed with no complications and he was discharged two days later. The selection of appropriate anesthetic technique and a careful perioperative and postoperative monitoring are of utmost importance due to progressive muscle weakness, hypotonia, respiratory failure and cardiomyopathy in pompe disease.

关键词： pompe disease Spinal Anesthesia Ureterorenoscopie

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Atypical infantile-onset pompe disease with good prognosis from China's Mainland:A case report

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World Journal of Clinical Cases 2022年第10期10卷 3278-3283页

作者： Ying Zhang Cheng Zhang Jian-Bo Shu Fang Zhang Department of Neonatal Tianjin Children’s Hospital(Tianjin University Children's Hospital)Tianjin 300134China Tianjin Key Laboratory of Birth Defects for Prevention and Treatment Tianjin Pediatric Research InstituteTianjin Children’s Hospital(Tianjin University Children's Hospital)Tianjin 300134China

BACKGROUND pompe disease has a broad disease spectrum,including infantile-onset pompe disease(IOPD)and late-onset pompe disease(LOPD)*** is a type of glycogen storage disorder belonging to autosomal recessive genetic disease,for an estimated incidence of 1/40000 among the neonatal *** severe cases,the natural course is characterized by death due to cardiopulmonary failure in the first year after ***,the clinical outcomes have improved since the emergence of enzyme replacement therapy(ERT)was widely *** SUMMARY The reported female case in China was an atypical IOPD,which demonstrates an unusual presentation of glycogen accumulation syndrome typeⅡwithout obvious skeletal muscle involvement,and reviewed physical examination,biochemical examinations,chest radiograph,and acidα-glucosidase(GAA)mutation *** 4-mo specific ERT,the case received 12-mo ***,the patient has obtained a very good prognosis under *** For the atypical IOPD patients,early diagnosis and treatment may contribute to good prognosis.

关键词： pompe disease Rare genetic disease Enzyme replacement therapy Infantile-onset pompe disease Case report

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Pulmonary Hypertension in Glycogen Storage disease Type II

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Chinese Medical Journal 2018年第11期131卷 1375-1376页

作者： Hui-Ping Li Wan-Mu Xie XU Huang Xin Lu Zhen-Guo Zhai Qing-Yuan Zhan Chen Wang National Clinical Research Center for Respiratory disease Beijing 100029 China Center for Respiratory disease China-Japan Friendship Hospital Beijing 100029 China Department of Pulmonary and Critical Care Medicine China-Japan Friendship Hospital Beijing 100029 China Department of Rheumatology China-Japan Friendship Hospital Beijing 100029 China

To the Editor： Glycogen storage disease （GSD） is a group of inherited disorders with abnormal glycogen deposition, Pulmonary hypertension （PH） is a rare complication of GSD with unclear etiology. Since the pioneer description in 1980, only a few cases of GSD-associated PH have been reported. Here, we reported a Chinese case with informed consent by the patient and the guardian.

关键词： pompe disease

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The diagnosis and treatment process of one clinical case of juvenile glycogen storage disease in current medical model in china

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TMR Theory and Hypothesis 2018年第4期1卷 123-127页

作者： Li-Yuan Zhang Xiao-Shuang Hou Yan Huang Ruo-Bao Li Department of oncology Weifang Medical University Weifang China Department of endocrinology Weifang Medical UniversityWeifang China Department of oncology Affiliated Hospital of Weifang Medical Unikeyversity Weifang China Department of anatomy Weifang Medical University Weifang China

Glycogen storage disease type Ⅱ, also known as pompe disease (PD), is a kind of congenital metabolic myopathy, the cause of this disease is the barrier of glycogen disintegration due to the shortage of acid alpha-1,4-glucosidase enzyme. The prevalence of PD ranges between 1:40,000 and 1:300,000 and is dependent on ethnic and geographical factors. The main clinical manifestation of this myopathy is the injury of muscle organization. According to the difference in age and developmental speed, we can divide this disease into three types: the infantile type, the juvenile type and the adult type, and the latter two types are called the late onset type. Because the symptom of the late onset form is not typical, the mutual mixture of the late onset type and some chronic myopathy always takes place, which can even cause evade diagnosis and misdiagnosis, thus it is supposed to be highly focused on. At present, there is a shortage of effective therapeutic methods to cope with this myopathy all over the world. The following part is a report about the clinical data and the rehabilitation intervention of a patient who caught the juvenile type of GSD-Ⅱ, which is combined to home and abroad literatures, the purpose of this report is to help enhance clinical physicians’ cognition of this disease in the future therapy. At the same time, we combine with the current medical mode and system in China to reflect on the prevention and treatment of such diseases.

关键词： pompe disease Enzyme activity detection Gene detection

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