Frontiers in Pediatrics (Sep 2023)

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

  • 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,
  • Didem Gülcü Taşkın,
  • Ayşegül Bükülmez,
  • Arzu Meltem Demir,
  • Yavuz Tokgöz,
  • Aydan Kansu,
  • Zarife Kuloğlu,
  • Ceyda Tuna Kırsaçlıoğlu,
  • Hasret Ayyıldız,
  • Günsel Kutluk,
  • Meryem Keçeli Başaran,
  • Oya Balcı Sezer,
  • Tanju Başarır Özkan,
  • Taner Özgür,
  • Gonca Handan Üstündağ,
  • Eda Somuncu,
  • Gökhan Tümgör,
  • Sibel Yavuz,
  • Ali İşlek,
  • Ferda Özbay Hoşnut,
  • Gülseren Evirgen Şahin,
  • Duran Arslan,
  • Derya Altay,
  • Yaşar Doğan,
  • Uğur Deveci,
  • Buket Dalgıç,
  • Kamercan Ceylan,
  • Ahmet Baştürk,
  • Necati Balamtekin,
  • Melike Arslan,
  • Hülya Demir,
  • Hayriye Hızarcıoğlu Gülşen,
  • Güzide Doğan,
  • Atakan Comba,
  • Mukadder Ayşe Selimoğlu,
  • 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,
  • Yasin Şahin,
  • Yusuf Usta,
  • Asuman Nur Karhan,
  • Gönül Çaltepe,
  • İbrahim Ethem Taşkaya,
  • 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,
  • İshak Abdurrahman Işık,
  • Ulaş Emre Akbulut,
  • Özlem Bekem,
  • Cahit Barış Erdur,
  • Nafiye Urgancı,
  • Ayşe Merve Usta,
  • Coşkun Çeltik,
  • Nelgin Gerenli,
  • Nevzat Aykut Bayrak,
  • Kaan Demirören

DOI
https://doi.org/10.3389/fped.2023.1272177
Journal volume & issue
Vol. 11

Abstract

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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.

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