The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

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dc.authoridBukulmez, Aysegul/0000-0002-6013-5172
dc.authoridUsta, Ayşe Merve/0000-0002-5086-6270
dc.authoridDoğan, Yaşar/0000-0001-9738-9611
dc.authoridBayrak, Nevzat Aykut/0000-0002-5553-6123
dc.authoridGUMUS, MELTEM/0000-0002-9257-6597
dc.authoridGULCU TASKİN, Didem/0000-0002-2746-3799
dc.authoridyavuz, sibel/0000-0002-6768-238X
dc.authorwosidBukulmez, Aysegul/A-8528-2018
dc.authorwosidyavuz, sibel/HCH-3363-2022
dc.authorwosidUsta, Ayşe Merve/N-7914-2018
dc.authorwosidDoğan, Yaşar/V-7962-2018
dc.authorwosidBayrak, Nevzat Aykut/J-6380-2013
dc.authorwosidARSLAN, DURAN/AAL-9828-2021
dc.authorwosidGUMUS, MELTEM/KAO-3207-2024
dc.contributor.authorKansu, Aydan
dc.contributor.authorKuloglu, Zarife
dc.contributor.authorTumgor, Gokhan
dc.contributor.authorTaskin, Didem Gulcu
dc.contributor.authorDalgic, Buket
dc.contributor.authorCaltepe, Gonul
dc.contributor.authorDemiroren, Kaan
dc.date.accessioned2024-08-04T21:02:03Z
dc.date.available2024-08-04T21:02:03Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractIntroduction Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.Methods This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2x the upper limit of normal (ULN) for >= 3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.Results Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).Discussion Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases.Trial Registration Clinicaltrials.gov NCT04120168.en_US
dc.description.sponsorshipFunding was provided by the Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition. Medical writing support was provided by Fiona Woodward, PhD, of EVR Consulting, funded by PTC Therapeutics.; Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition - PTC Therapeuticsen_US
dc.description.sponsorshipThe authors would like to thank Serdar Ceylaner, Medical Geneticist (Intergen Genetic and Rare Diseases Diagnosis and Research Center), for their assistance with the genetic interpretation and Onur Toka (Hacettepe University, Faculty of Science, Department of Statistics) for statistical analysis.r The author(s) declare financial support was received for the research, authorship, and/or publication of this article.r Funding was provided by the Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition. Medical writing support was provided by Fiona Woodward, PhD, of EVR Consulting, funded by PTC Therapeutics.en_US
dc.identifier.doi10.3389/fped.2023.1272177
dc.identifier.issn2296-2360
dc.identifier.pmid37818166en_US
dc.identifier.urihttps://doi.org/10.3389/fped.2023.1272177
dc.identifier.urihttps://hdl.handle.net/11616/104445
dc.identifier.volume11en_US
dc.identifier.wosWOS:001080758600001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFrontiers Media Saen_US
dc.relation.ispartofFrontiers in Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectneuromuscular diseaseen_US
dc.subjecthypertransaminasemiaen_US
dc.subjectelevated transaminaseen_US
dc.subjectDuchenne muscular dystrophyen_US
dc.subjectBecker muscular dystrophyen_US
dc.subjectPompe diseaseen_US
dc.titleThe frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA studyen_US
dc.typeArticleen_US

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