Familial Mediterranean fever phenotype II in Greece.
2001; National Institutes of Health; Volume: 3; Issue: 11 Linguagem: Inglês
Autores
Kostas Konstantopoulos, Alexandra Kanta, Michael Tzoulianos, Sophia Dimou, Flora Sotsiou, Marianna Politou, Dimitris Loukopoulos,
Tópico(s)Amyloidosis: Diagnosis, Treatment, Outcomes
ResumoA 65 year old woman from Corfu island (Ionian Sea, northwest Greece) was referred for investigation of a severe nephrotic syndrome that appeared several weeks earlier. Her ethnic origin was Greek and her religion Christian Orthodox. There was a generalized edema that was more evident on both ankles. Urine testing revealed severe proteinuria (7 g/ dl protein loss). Her past medical history was unremarkable apart from a moderate depression necessitating anti-depressive drugs (mianserin). There was no hypertension, diabetes or any indication of a systemic disease. Abdominal ultrasonography revealed a symmetric bilateral renal enlargement. Renal biopsy and light microscopy did not reveal any gross amyloid deposition by Congo stain; however, histochemistry indicated the presence of AA type amyloid, thus confirming the diagnosis of renal amyloidosis (amyloid A component MO 759, DAKO, Denmark). A thorough investigation to detect any underlying cause leading to amyloidosis was conducted, including wholeskeleton radiology and bone marrow examination, but no definite conclusion was reached. Although there was no history of recurrent painful crises or arthralgias, and her family history was negative, we decided to perform a molecular test for the detection of the more common pyrin mutations associated with FMF [1]. The patient was found to be doubly heterozygous for the M680I/M694V mutation, thus confirming the diagnosis of FMF. She began a daily regimen of colchicine prophylaxis (1.5 mg). The patient is currently under a regular follow-up, and to date, one year later, there is no further deterioration of her renal function.
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