Özet:

Aim: Familial Mediterranean fever (FMF) is an autosomal recessive auto-inflammatory disease, presenting with recurrent episodes of fever and polyserositis. Mitochondrial fatty acid oxidation disorders and porphyrias can present with periodic abdominal and muscle pain. The aim of this study was to determine the inherited metabolic disorders in differential diagnoses of Turkish pediatric FMF patients. Materials and Methods: Hundred and seventy-four FMF patients were enrolled in the study. A fasting dry spot blood sample was taken for acyl-carnitine analysis by tandem mass spectrometry from all patients. Fresh, light-protected spot urine test was performed for porphobilinogen screening. Second-tier test with urine organic acid analysis and urine porphyrin metabolites were performed if pathologic findings were detected in acyl-carnitine profile or in porphobilinogen screening, for confirmation. Fifty healthy controls were included. Results: Of the 174 patients diagnosed with FMF, none of them was diagnosed with porphyria; only one patient with multiple acyl-CoA dehydrogenase deficiency was detected during the study. Conclusion: Our data revealed that screening for porphobilinogen for pediatric FMF patients is unnecessary, but an investigation of tandem mass spectrometry based acyl-carnitine analysis can be helpful in the differential or additional diagnosis of FMF in developing countries where there is no nationwide expanded newborn screening programme.

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