Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/1920
Título: Hyper-IgD and Periodic Fever Syndrome: a New MVK Mutation (p.R277G) Associated with a Severe Phenotype
Autor: Santos, J
Aróstegui, J
Brito, MJ
Neves, C
Conde, M
Palavras-chave: Hyperimmunoglobulinemia D
Fever
Mevalonate Kinase Deficiency
Phenotype
Child
HDE PED
HDE INF PED
HDE REUM PED
Data: 2014
Editora: Elsevier
Citação: Gene. 2014; 542 : 217–220
Resumo: Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM#260920) is a rare recessively-inherited autoinflammatory condition caused bymutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Herewe report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12 months. Rash, arthralgia, abdominal pain and diarrhea were also seen occasionally. During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis. Clinical and laboratory improvement was seen between attacks. Despite normal serum IgD level, HIDS was clinically suspected. Mutational MVK analysis revealed the homozygous genotype with the novel p.Arg277Gly (p.R277G) mutation, while the healthy non consanguineous parents were heterozygous. Short nonsteroidal anti-inflammatory drugs and corticosteroid courses were given during attacks with poor benefits, where as anakinra showed positive responses only at high doses. The p.R277Gmutation here described is a novel missense MVK mutation, and it has been detected in this casewith a severe HIDS phenotype. Further studies are needed to evaluate a co-relation genotype, enzyme activity and phenotype, and to define the best therapeutic strategies.
Peer review: yes
URI: http://hdl.handle.net/10400.17/1920
Aparece nas colecções:PED - Artigos
INF PED - Artigos
REUM PED - Artigos

Ficheiros deste registo:
Ficheiro Descrição TamanhoFormato 
Gene 2014_542_217.pdf476,82 kBAdobe PDFVer/Abrir


FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.