학술논문
The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study
Document Type
article
Author
Aydan Kansu; Zarife Kuloglu; Gökhan Tümgör; Didem Gülcü Taşkın; Buket Dalgıç; Gönül Çaltepe; Kaan Demirören; Güzide Doğan; Ceyda Tuna Kırsaçlıoğlu; Duran Arslan; İshak Abdurrahman Işık; Hülya Demir; Özlem Bekem; Yasin Şahin; Nevzat Aykut Bayrak; Mukadder Ayşe Selimoğlu; Sibel Yavuz; İbrahim Ethem Taşkaya; Derya Altay; the VICTORIA Study Group; Ayşegül Bükülmez; Arzu Meltem Demir; Yavuz Tokgöz; Zarife Kuloğlu; Hasret Ayyıldız; Günsel Kutluk; Meryem Keçeli Başaran; Oya Balcı Sezer; Tanju Başarır Özkan; Taner Özgür; Gonca Handan Üstündağ; Eda Somuncu; Ali İşlek; Ferda Özbay Hoşnut; Gülseren Evirgen Şahin; Yaşar Doğan; Uğur Deveci; Kamercan Ceylan; Ahmet Baştürk; Necati Balamtekin; Melike Arslan; Hayriye Hızarcıoğlu Gülşen; Atakan Comba; İlknur Varol; Sebahat Çam; Eylem Sevinç; Erkan Doğan; Murat Çakır; Burcu Güven; Suna Selbuz; Hacer Fulya Gülerman; Zeynep Arslan; Ayşen Uncuoğlu; Neslihan Gürcan Kaya; Deniz Ertem; Engin Tutar; Burcu Volkan; Yusuf Usta; Asuman Nur Karhan; Halil Kocamaz; Tuğba Gürsoy Koca; Fatih Ünal; Birol Öztürk; Cansu Altuntaş; Halil Haldun Emiroğlu; Meltem Gümüş; Mustafa Akçam; Yeliz Çağan Appak; Betül Aksoy; Elif Sağ; Ulaş Emre Akbulut; Cahit Barış Erdur; Nafiye Urgancı; Ayşe Merve Usta; Coşkun Çeltik; Nelgin Gerenli
Source
Frontiers in Pediatrics, Vol 11 (2023)
Subject
Language
English
ISSN
2296-2360
Abstract
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