Renal amyloidosis due to familial Mediterranean fever misdiagnosed.
Indian J Hum Genet
;
2012 Sept; 18(3): 363-365
Article
in English
| IMSEAR
| ID: sea-145864
ABSTRACT
Familial Mediterranean fever (FMF, MIM 249100) is an autosomal recessive disease affecting mainly patients of the Mediterranean basin. It is an autoinflammatory periodic disorder characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The major complication of FMF is the development of renal AA amyloidosis. Treatment with colchicine prevents the occurrence of recurrent seizures and renal amyloidosis. The disease is caused by mutations in the MEFV gene. We report here the cases of two unrelated patients, who have been late diagnosed with FMF complicated by renal amyloidosis. We focus on the importance of early diagnosis of FMF, both to start rapidly treatment with colchicine and avoid renal amyloidosis, and to provide genetic counseling to families.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Screening study
Language:
English
Journal:
Indian J Hum Genet
Year:
2012
Type:
Article
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