Аңдатпа
Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD) is a common X-linked inherited disorder affecting persons of African, Asian, Mediterranean, or Middle-Eastern descent. The erythrocytes of the patients express an increased vulnerability to oxidative stress. The majority of persons with reduced enzyme activity is asymptomatic, but some have episodic severe hemolysis and others chronic anemia. There are only a few reports of rhabdomyolysis during a hemolytic crisis and one case report of malignant hyperthermia during anesthesia. Case Report: A 17-year-old patient of Middle Eastern origin came to our hospital because of abdominal pain after sports and the ingestion of beans. He had normal hemoglobin and red cell blood count, but moderate thrombopenia, hyperbilirubinemia, and a creatine kinase (CK) of 6,939 U/L. During the next days, the CK went up to 21,753 U/L with extensive high myoglobin of more than 3,000 ng/mL. Lowest erythrocyte count was 4.47 T/L and lowest hemoglobin 13.9 g/dL. Muscle biopsy revealed augmented storage of glycogen. The whole-exome analysis by next generation sequencing (NGS) showed a hemizygous pathogen mutation in the exome 6 (c.563C>T; p.Ser188Phe) of the G6PD gene. Conclusion: In a patient with rhabdomyolysis even without substantial hemolysis, a G6PD should be considered. This diagnosis is essential advising the patient concerning medicine and substance use.