Mitokondriyal nörogastrointestinal ensefalomiyopati sendromu nedeni ile yapılan hematopoietik kök hücre transplantasyonunda fizyoterapi ve rehabilitasyonun etkileri: olgu sunumu

Abstract

(MNGIE), nadir görülen otozomal resesif geçişli, pek çok sistemi etkileyen bir hastalıktır. Ciddi kas kuvvet kaybı, gastrointestinal dismotilite, lökoensefalopati, periferal nöropati ve oftalmopleji ile karakterizedir. Trombosit transfüzyonu, hemodiyaliz, peritoneal diyaliz ve hematopoietik kök hücre transplantasyonu kullanılan tedavi yöntemlerindendir. Çalışmamızın amacı, hematopoietik kök hücre transplantasyonu uygulanan 14 yaşındaki hastada fizyoterapi ve rehabilitasyon programının etkinliğini araştırmaktır. Hastanın başlangıç kas kuvveti, eklem hareket açıklığı, duyu, fonksiyonel performansı değerlendirmelerine göre bireysel bir fizyoterapi ve rehabilitasyon programı oluşturuldu. Çalışmamız sonucunda hastanın fonksiyonel performansının geliştiği, duyu, kas kuvveti, günlük yaşam aktiviteleri ve eklem hareket açıklığının ise korunduğu bulunmuştur

Keywords

• MNGIE sendromu, Hematopoietik kök hücre transplantasyonu, Egzersiz

Effects of physiotherapy and rehabilitation in hematopoietic stem cell transplantation performed due to mitochondrial neurogastrointestinal ensefalomiyopathy syndrome: a case report

Abstract

Effects of physiotherapy and rehabilitation in hematopoietic stem cell transplantation performed due to mitochondrial neurogastrointestinal ensefalomiyopathy syndrome: a case report Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder affecting a lot of system. The disease is characterized by muscle atrophy, gastrointestinal dysmotility, leukoencephalopathy, peripheral neuropathy, and ophthalmoplegia. Thrombocyte transfusions, hemodialysis, peritoneal dialysis, and hematopoietic stem cell transplantation are treatment methods which were used. The aim of our study was to investigate the efficacy of physiotherapy and rehabilitation program in a 14 years old patient who has been applied hematopoietic stem cell transplantation. Based on initial assessments of muscle strength, range of motion, sensation, functional performance, an individual physiotherapy and rehabilitation program was designed. As a the result of our study it was found that exercise program improved the functional performance of the child; prevented sense, muscle strength, daily life activities, and the range of motion

Keywords

• MNGIE syndrome, Hematopoietic stem cell transplantation, Exercise

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