Akademik Veri Yönetim Sistemi
Kansu Tanca A. (Yürütücü), Kuloğlu Z. (Yürütücü), Tuna Kırsaçlıoğlu C. (Yürütücü)
Dernek (STK), 2019 - 2022
Objectives
To determine the frequency of Duchenne /Becker muscular dystrophy (DMD/BMD) in male children and the frequency of Pompe disease (PD) in male and female children with isolated hypertransaminasemia.
Study design
This multi-center, prospective study enrolled patients aged 3-216 months old with serum alanine transaminase [ALT] and/or aspartate transaminase [AST]) >2 x 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 boys and enzyme analysis for PD in boys and girls with elevated CPK levels were performed. PD was confirmed by genetic analysis. Demographic, clinical and laboratory characteristics of the patients were analyzed.
Results
Overall, 589 patients (66.8% male and 33.2% female; mean age 63.4 months (standard deviation 60.5) were included. CPK levels were above ULN in 251 patients (188 male, 63 female). Of the patients assessed, 47% (85/182) of male patients were diagnosed as DMD/BMD and 1% (3/228) of male and female patients were diagnosed as PD. The median ALT, AST and CPK levels were statistically significantly higher and neurological symptoms and signs were more common in DMD/BMD patients than those without the diagnosis of DMD/BMD or PD (p<0.001).
Conclusions
Questioning neurological symptoms, complete physical examination and testing for CPK levels in patients with isolated hypertransaminasemia will avoid costly and time consuming investigations for liver diseases and will lead to diagnose occult neuromuscular diseases.