Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

Frontiers in Neurology

Hossein Moravej¹  Yalda Nilipour²  Payam Sarraf³  Mahmoud Reza Ashrafi⁴  Keyhan Sayadpour Zanjani⁴  Atefeh Fakharian⁵  Farzad Fatehi⁶  Shahriar Nafissi⁶  Mehran Beiraghi Toosi⁷  Peyman Eshraghi⁷  Bahram Haghi Ashtiani⁸  Behnaz Ansari⁹  Zahra Hadipour^1,10  Reza Boostani^1,11  Marzieh Babaee^1,12 

[1] 0Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran;1Pediatric Pathology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran;2Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran;Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran;Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran;Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran;Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran;Isfahan Neurosciences Research Center, Alzahra Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran;Medical Genetic Department, Atieh Hospital, Pars Hospital and Research Center, Tehran, Iran;Neurology Department, Mashhad University of Medical Sciences, Mashhad, Iran;Physical Medicine and Rehabilitation Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran;

关键词: Pompe disease;    consensus;    guideline;    enzyme replacement therapy;    Iran;   

DOI  :  10.3389/fneur.2021.739931

来源: DOAJ

【 摘 要 】

Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing.Objective: This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities.Methods: A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members.Conclusion: Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.

【 授权许可】

Unknown