Scopus
🔓 Açık Erişim YÖKSİS DOI Eşleşti
SJR Q3
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye
Turkish Journal of Medical Sciences · Ocak 2025
YÖKSİS Kayıtları
Expert opinion on clinical presentation, diagnosis and treatment of infantile onset pompe disease: a delphi study in Türkiye
Turkish Journal of Medical Sciences · 2025 SCI-Expanded
Dr. Öğr. Üyesi BANU KADIOĞLU YILMAZ →
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Makale Bilgileri
ISSN13000144
Yayın TarihiOcak 2025
Cilt / Sayfa55 · 585-594
Scopus ID2-s2.0-105009223930
Erişim🔓 Açık Erişim
Özet
Background/aim: Pompe disease (acid maltase deficiency, glycogen storage disease type II, OMIM #606800) is an autosomal recessive disorder characterized by lysosomal acid-α-glucosidase deficiency. The infantile-onset type of the disease is mainly characterized by cardiomegaly, hypotonia, and a high mortality rate. This study aimed to create a national consensus about infantile-onset Pompe disease (IOPD) to raise awareness among clinicians and standardize diagnosis and treatment approaches in Türkiye. Materials and methods: The Gazi University Division of Metabolic Diseases and Nutrition developed this expert opinion consensus and expanded it to include metabolism specialists across Türkiye. A systematic literature review was performed, and the Delphi method was used to evaluate the results. Results: Seventeen conclusive questions were produced about clinical presentation, diagnosis, and treatment, and 14 reached a consensus. Consensus was reached that general hypotonia is one of the most important findings, and agreement was also achieved on the starting dose of treatment for presymptomatic patients. The contributors agreed that gene therapy is a good treatment option for IOPD in the future. Conclusion: The topics related to this consensus will help physicians in Türkiye and elsewhere with high incidence rates of IOPD, especially regarding diagnosis and treatment decisions.
Yazarlar (40)
1
Ekin Özsaydi Aktaşoğlu
ORCID: 0000-0002-3735-7439
2
Asli Inci
3
Rıdvan Murat Öktem
ORCID: 0000-0002-9882-2883
4
Gürsel Biberoğlu
ORCID: 0000-0001-9469-993X
5
İlyas Okur
ORCID: 0000-0002-8772-0689
6
Fatih Suheyl Ezgu
7
Filiz Başak Cengiz Ergin
ORCID: 0000-0002-1374-5939
8
Abdurrahman Akgün
ORCID: 0000-0002-2917-2469
9
Nur Arslan
ORCID: 0000-0003-3151-3741
10
Halil Ibrahim Aydin
11
Ayse Ergul Bozaci
ORCID: 0000-0002-9783-1016
12
Mahmut Çoker
ORCID: 0000-0002-6308-6804
13
Fatma Tuba Eminoglu
14
Melike Ersoy
15
Emine Goksoy
16
Banu Kadıoğlu Yılmaz
17
Mehtap Kağnici
ORCID: 0000-0002-7071-9200
18
Mustafa Kılıç
ORCID: 0000-0002-1401-5233
19
Neslihan Önenli Mungan
ORCID: 0000-0001-7862-3038
20
Burcu Ozturk Hismi
21
Pembe Soylu Üstkoyuncu
22
Ayşegül Tokatli
ORCID: 0000-0003-2812-9319
23
Ayşe Çiğdem Aktuğlu Zeybek
ORCID: 0000-0001-7256-0750
24
Berrak Bilginer Gürbüz
ORCID: 0000-0002-6197-0647
25
Sevil Dorum
ORCID: 0000-0001-6947-2573
26
Dilek Güneş
ORCID: 0000-0002-0112-0624
27
Cigdem Seher Kasapkara
28
Sebile Kilavuz
ORCID: 0000-0002-7527-2620
29
Erdoğan Soyuçen
ORCID: 0000-0002-2500-7028
30
Pelin Teke Kisa
ORCID: 0000-0001-6481-3172
31
Özlem Ünal Uzun
ORCID: 0000-0001-7937-7721
32
Fatma Derya Bulut
ORCID: 0000-0003-0529-2404
33
Songül Gökay
ORCID: 0000-0003-3845-8431
34
Selen Has Özhan
ORCID: 0000-0002-6079-5517
35
Deniz Kor
ORCID: 0000-0001-7659-0500
36
Aynur Küçükçongar Yavaş
ORCID: 0000-0002-4766-300X
37
Figen Özçay
ORCID: 0000-0002-5214-516X
38
Yilmaz Yildiz
ORCID: 0000-0001-9076-1388
39
Harun Yildiz
ORCID: 0000-0002-1918-2575
40
Leyla Tümer
ORCID: 0000-0002-7831-3184
Anahtar Kelimeler
Acid maltase deficiency
Delphi study
expert opinion
infantile-onset Pompe disease
Turkish consensus
Kurumlar
Akdeniz University, Faculty of Medicine
Antalya Turkey
Ankara Bilkent City Hospital
Ankara Turkey
Ankara Etlik City Hospital
Ankara Turkey
Ankara Üniversitesi
Ankara Turkey
Ankara Yildirim Beyazit University
Ankara Turkey
Antalya Training and Research Hospital
Antalya Turkey
Aydin Adnan Menderes University
Aydin Turkey
Bağcilar Eğitim ve Araştirma Hastanesi
Istanbul Turkey
Başkent Üniversitesi
Ankara Turkey
Çukurova Üniversitesi Tip Fakültesi
Adana Turkey
Dokuz Eylül Üniversitesi
Izmir Turkey
Ege University Medical School
Izmir Turkey
Firat Üniversitesi Tip Fakültesi
Elazig Turkey
Gazi University, Faculty of Medicine
Ankara Turkey
Hacettepe Üniversitesi
Ankara Turkey
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine
Istanbul Turkey
Kayseri City Hospital
Kayseri Turkey
Kocaeli Üniversitesi
İzmit Turkey
Manisa City Hospital
Manisa Turkey
Marmara Üniversitesi Tip Fakültesi
Istanbul Turkey
Selçuk Tip Fakültesi
Konya Turkey
University of Health Sciences
Istanbul Turkey
Scimago Dergi (ISSN Eşleşmesi)
Turkish Journal of Medical Sciences
Q3
SJR Skoru0,386
H-Index44
YayıncıTUBITAK
ÜlkeTurkey
Medicine (miscellaneous) (Q3)