课件：成人病诊断中的问题和鉴别诊断思路.ppt

* * * * * * * * * * * * * Inherited inflammatory disorders are each associated with defects in specific gene products that are related to the functioning of the innate immune system. Most disorders present with episodes of inflammation – including fever, rash and elevation of acute phase proteins – but there are subtle differences between the different disorders.1–3 Features of CAPS include deafness, urticarial rash, conjunctivitis, visual problems and arthritis (see slide 6 for further details). Most patients have a mutation in the NLRP3 gene and inheritance is usually autosomal dominant (see slide 13 for further details).1 Familial Mediterranean fever (FMF) is the most common inherited periodic fever syndrome occurring in more than 100,000 people worldwide. It is most prevalent in Jewish, Arab, Armenian, Turkish and Italian populations. It is associated with mutations in the gene encoding pyrin, a protein believed to be involved in regulation of IL-1β production. The gene is located on chromosome 16p13.3, and inheritance is generally autosomal recessive. Attacks usually last 1–3 days, and distinguishing clinical features include serosal inflammation and amyloidosis. Most patients respond to treatment with colchicine.1–3 Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is associated with mutations in the gene encoding the TNF receptor 1, located on chromosome 12p13 and shows autosomal dominant inheritance. Attacks generally last 1–4 weeks and are associated with fever and local inflammation. Most patients develop erythematous macules and papules on the arms, which then expand and coalesce. Most patients respond to treatment with high-dose corticosteroids, but not to colchicine.1–3 Hyperimmunoglobulinaemia D syndrome (HIDS) is characterized by febrile episodes lasting several days that recur every 4–8 weeks and elevated levels of immunoglobulin D. It is associated with marked lymphadenopathy and splenomegaly, distinguishing it from FMF. At