Evaluate the Clinical and Laboratory Manifestations of Children With Type 6 of Mucopolysaccharidosis Before and After Enzyme Therapy: A Quasi-Experimental One Group Study

Ali Ghavidel  Shoorabi; Mohammad Ghavidel  Shoorabi; Rahim  Vakili; Ali  Ghasemi; Monire  Ghobadi; Mehrsa Basiri  Moghaddam

doi:10.18502/acta.v62i1.16880

Ali Ghavidel Shoorabi Children's Department, Bohlool Hospital, Gonabad University of Medical Sciences, Gonabad, Iran
Mohammad Ghavidel Shoorabi Medicine College, Mashhad University of Medical Sciences, Mashhad, Iran
Rahim Vakili Department of Pediatrics, Medicine College, Mashhad University of Medical Sciences, Mashhad, Iran
Ali Ghasemi Department of Pediatric Hematology Oncology, Medicine College, Mashhad University of Medical Sciences, Mashhad, Iran
Monire Ghobadi Department of Operating Room Technology, Paramedical College, Gonabad University of Medical Sciences, Gonabad, Iran
Mehrsa Basiri Moghaddam Department of Operating Room Technology, Paramedical College, Social Development and Health Promotion Research Center, Gonabad University of Medical Sciences, Gonabad, Iran

DOI: https://doi.org/10.18502/acta.v62i1.16880

Keywords: Clinical manifestations; Laboratory manifestations; Children; Type 6 of mucopolysaccharidosis; Enzyme therapy

Abstract

The purpose of this study is to evaluate the clinical and laboratory manifestations of children with mucopolysaccharidosis type 6 before and after enzyme therapy. In this quasi-experimental study, 8 patients with MPS-6 referred to the pediatric endocrinology department of Imam Reza Hospital in Mashhad were followed up for 12 months. The level of urinary glycosaminoglycan was measured to check the response to the treatment. The range of motion of the shoulder and elbow joints was evaluated using a goniometer, and abdominal ultrasound was performed to check the size of the liver and spleen in the midclavicular line. The 6-minute walking test and the 3-minute stair climbing test were performed for the patients at the mentioned times. The height and weight of the patients were also measured, and echocardiography was performed. Then patients underwent weekly enzyme treatment. One of the patients (seventh patient) was excluded from the study. Patients were treated with enzyme from the beginning of the study. The patients were evaluated at 12 months later. Statistical analysis showed that changes in urinary GAG level, height, weight, changes in 6-minute walk and range of motion (extension and flexion) of the shoulder were significant (P<0.05). Changes in liver and spleen size compared to height, climbing stairs, corneal opacity and heart changes after 12 months of enzyme therapy were not significant. It is suggested that even though this method of treatment is not definitive, that can be continued to improve the current condition of the patient.