Autor(es):
Abreu, Tiago Tribolet de 
Data: 2004
Origem: Acta Médica Portuguesa
Detalhes do Documento
Periodic fever: the first Portuguese case-report of hyper-IgD syndrome (HIDS).
Descrição
Periodic fever can have one of multiple causes. Among the hereditary periodic fever syndromes, hyper-IgD syndrome (HIDS) is a possible diagnosis, although, until now, no cases had been described in Portugal.We report a 25-year-old woman, with periodic fever since she was 8 months old. She had high serum IgD levels, and a molecular study of the mevalonate kinase gene was performed. A compound heterozygote was found for two mutations: V377I and T237S. This last mutation had not been observed before.We analyse the clinical features that made us think on HIDS as a possible diagnosis, and we highlight the features that are important for the differential diagnosis between HIDS and other periodic fevers.HIDS is a possible diagnosis for patients with periodic fever, even in Portugal. Periodic fever can have one of multiple causes. Among the hereditary periodic fever syndromes, hyper-IgD syndrome (HIDS) is a possible diagnosis, although, until now, no cases had been described in Portugal.We report a 25-year-old woman, with periodic fever since she was 8 months old. She had high serum IgD levels, and a molecular study of the mevalonate kinase gene was performed. A compound heterozygote was found for two mutations: V377I and T237S. This last mutation had not been observed before.We analyse the clinical features that made us think on HIDS as a possible diagnosis, and we highlight the features that are important for the differential diagnosis between HIDS and other periodic fevers.HIDS is a possible diagnosis for patients with periodic fever, even in Portugal.
Periodic fever can have one of multiple causes. Among the hereditary periodic fever syndromes, hyper-IgD syndrome (HIDS) is a possible diagnosis, although, until now, no cases had been described in Portugal.We report a 25-year-old woman, with periodic fever since she was 8 months old. She had high serum IgD levels, and a molecular study of the mevalonate kinase gene was performed. A compound heterozygote was found for two mutations: V377I and T237S. This last mutation had not been observed before.We analyse the clinical features that made us think on HIDS as a possible diagnosis, and we highlight the features that are important for the differential diagnosis between HIDS and other periodic fevers.HIDS is a possible diagnosis for patients with periodic fever, even in Portugal. Periodic fever can have one of multiple causes. Among the hereditary periodic fever syndromes, hyper-IgD syndrome (HIDS) is a possible diagnosis, although, until now, no cases had been described in Portugal.We report a 25-year-old woman, with periodic fever since she was 8 months old. She had high serum IgD levels, and a molecular study of the mevalonate kinase gene was performed. A compound heterozygote was found for two mutations: V377I and T237S. This last mutation had not been observed before.We analyse the clinical features that made us think on HIDS as a possible diagnosis, and we highlight the features that are important for the differential diagnosis between HIDS and other periodic fevers.HIDS is a possible diagnosis for patients with periodic fever, even in Portugal.
Tipo de Documento
Artigo
Idioma Português
Idioma Português
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