A severe @entity74 with @entity12042 and XXXX resistance associated to the @entity16498 @entity70952 variant in a Spanish kindred: an unusual familial Mediterranean @entity221 phenotype or another @entity16498 -associated periodic @entity32 ?

@entity1 @entity32 @entity16498 @entity12042 @entity527 @entity827 @entity2783 @entity5704 @entity70952 @entity11534 @entity74 @entity3812 @entity8649 @entity221 @entity10736
@entity827 ( @entity827 ) is an @entity74 characterized by recurring short attacks of @entity221 and @entity11534 . @entity2783 is the worst complication of the disease and often determines the prognosis. The @entity16498 gene, on chromosome 16p13.3, is responsible for the disease and around 30 mutations have been reported to date. @entity3812 is the standard @entity827 treatment today, and prevents both @entity527 in 95% of @entity1 . Here we describe a three-generation Spanish kindred with five family members affected by a severe periodic @entity32 associated with @entity12042 and @entity3812 unresponsiveness. Clinical diagnosis of @entity827 was made based on the Tel-Hashomer criteria set. Genetic analyses revealed that all subjects were heterozygous for the new @entity70952 @entity16498 variant, segregating with the disease. In addition, mutations in the @entity10736 and @entity5704 / @entity5704 / @entity5704 genes, related to the @entity74 , were ruled out. However, the dominant inheritance of the disease, the long @entity221 episodes with a predominant joint involvement, and the resistance to @entity3812 in these @entity1 raise the question of whether the @entity827 seen in this kindred is a true @entity827 with unusual manifestations or rather another @entity16498 -associated @entity827 . We conclude that the new @entity70952 @entity16498 mutation is the dominant pathological variant causing the @entity32 in this kindred and that full-length analyses of the @entity16498 gene are needed to obtain an adequate diagnosis of @entity1 with clinical suspicion of a @entity8649 , especially those from non-ancestral populations.
