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

Frontiers in Pediatrics

Pediatrics

Derya Altay¹  Duran Arslan¹  Buket Dalgıç²  Hülya Demir³  İbrahim Ethem Taşkaya⁴  Gönül Çaltepe⁴  Sibel Yavuz⁵  Gökhan Tümgör⁵  Mukadder Ayşe Selimoğlu⁶  Didem Gülcü Taşkın⁷  Aydan Kansu⁸  Zarife Kuloglu⁸  Ceyda Tuna Kırsaçlıoğlu⁸  Güzide Doğan⁹  Yasin Şahin^1,10  İshak Abdurrahman Işık^1,11  Kaan Demirören^1,12  Özlem Bekem^1,13  Nevzat Aykut Bayrak^1,14 

[1] Department of Pediatric Gastroenterology, Erciyes University School of Medicine, Kayseri, Türkiye;Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Türkiye;Department of Pediatric Gastroenterology, Hacettepe University School of Medicine, Ankara, Türkiye;Department of Pediatric Gastroenterology, Ondokuz Mayıs University School of Medicine, Samsun, Türkiye;Department of Pediatric Gastroenterology, Çukurova University School of Medicine, Adana, Türkiye;Department of Pediatric Gastroenterology, İnönü University School of Medicine, Malatya, Türkiye;Department of Pediatrics, Adana City Training and Research Hospital, Adana, Türkiye;Department of Pediatrics, Division of Pediatric Gastroenterology, Ankara University School of Medicine, Ankara, Türkiye;Department of Pediatrics, Haseki Training and Research Hospital, İstanbul, Bezmialem Vakıf University, İstanbul, Türkiye;Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Türkiye;Department of Pediatrics, University of Health Sciences Antalya Training and Research Hospital, Antalya, Türkiye;Department of Pediatrics, Yüksek İhtisas Training and Research Hospital, Bursa, Türkiye;University of Health Sciences, Dr. Behçet Uz Children's Hospital, İzmir, Türkiye;University of Health Sciences, Zeynep Kamil Women and Children's Training and Research Hospital, İstanbul, Türkiye;

关键词: neuromuscular disease;    hypertransaminasemia;    elevated transaminase;    Duchenne muscular dystrophy;    Becker muscular dystrophy;    Pompe disease;   

DOI  :  10.3389/fped.2023.1272177

 received in 2023-08-03, accepted in 2023-09-01,  发布年份 2023

来源: Frontiers

【 摘 要 】

IntroductionElevated 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.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× 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.ResultsOverall, 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).DiscussionQuestioning 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 RegistrationClinicaltrials.gov NCT04120168.

【 授权许可】

Unknown   
© 2023 Kansu, Kuloglu, Tümgör, Taşkın, Dalgiç, Çaltepe, Demirören, Doğan, Tuna Kırsaçlıoğlu, Arslan, Işık, Demir, Bekem, Şahin, Bayrak, Selimoğlu, Yavuz, Taşkaya and Altay and the VICTORIA Study Group.