The American journal of the medical sciences
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Review Case Reports
Severe Rhabdomyolysis in Glucose-6-Phosphate Dehydrogenase Deficiency.
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an X-linked genetic disorder associated with intravascular hemolysis. Rhabdomyolysis with myoglobinuria in a patient with G6PD deficiency is a very rare manifestation, in fact, to the best of our knowledge, only a few case reports have been published in the literature to date. Herein, we report an unusual presentation of a 33-year-old male with G6PD deficiency with multiple episodes of severe rhabdomyolysis with no significant concurrent hemolysis. This case supports the hypothesis that rhabdomyolysis may be a rare manifestation of G6PD deficiency, though the exact causation still remains unclear.
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Review Meta Analysis
IVS8-5T Allele of CFTR is the Risk Factor in Chronic Pancreatitis, Especially in Idiopathic Chronic Pancreatitis.
Cystic fibrosis transmembrane conductance regulator IVS8-5T gene variation appears to be associated with a higher risk of chronic pancreatitis (CP); however, there is inconsistency between previous reported studies. Here, we performed a meta-analysis to investigate this relationship. ⋯ Cystic fibrosis transmembrane conductance regulator IVS8-5T is a risk factor in patients with CP. IVS8-5T variation may play a significant role in the occurrence of ICP, especially in the European population.