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



Fatehi F1 ; Ashrafi MR2 ; Babaee M3 ; Ansari B4 ; Beiraghi Toosi M5 ; Boostani R6 ; Eshraghi P5 ; Fakharian A7 ; Hadipour Z8 ; Haghi Ashtiani B9 ; Moravej H10 ; Nilipour Y11 ; Sarraf P12 ; Sayadpour Zanjani K2 Show All Authors
Authors
  1. Fatehi F1
  2. Ashrafi MR2
  3. Babaee M3
  4. Ansari B4
  5. Beiraghi Toosi M5
  6. Boostani R6
  7. Eshraghi P5
  8. Fakharian A7
  9. Hadipour Z8
  10. Haghi Ashtiani B9
  11. Moravej H10
  12. Nilipour Y11
  13. Sarraf P12
  14. Sayadpour Zanjani K2
  15. Nafissi S1

Source: Frontiers in Neurology Published:2021


Abstract

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. © Copyright © 2021 Fatehi, Ashrafi, Babaee, Ansari, Beiraghi Toosi, Boostani, Eshraghi, Fakharian, Hadipour, Haghi Ashtiani, Moravej, Nilipour, Sarraf, Sayadpour Zanjani and Nafissi.
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