Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
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DOI：
10.1067/mai.2001.118790
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发表时间：
2001-10-01
影响因子：
14.2
通讯作者：
Broide, DH
中科院分区：
文献类型：
--
作者：
Hoffman, HM;Wanderer, AA;Broide, DH
背景：家族性寒性自身炎症综合征（FCAS），俗称家族性寒性荨麻疹，是一种罕见的常染色体显性炎症性疾病，因暴露于寒冷而诱发发作性症状。目的：本研究的目的是在一个大型队列中制定FCAS的临床诊断标准，该队列中FCAS的诊断支持与染色体1q44的遗传连锁。方法：我们评估了来自6个美国家庭的45名受影响的成员和68名未受影响的成员。进行DNA分析以确认与染色体1q44的连锁。通过详细的问卷调查和病史分析确定临床特征。结果：家谱和遗传分析均证实常染色体显性遗传和1q44染色体连锁。发作期间最一致的症状是皮疹（100%）、发热（93%）、关节痛（96%）和结膜炎（84%）。95%的受影响对象的发病年龄在生命的前6个月内。从接触寒冷到出现症状的平均延迟时间为2.5小时，一次发作的平均持续时间为12小时。合并淀粉样变的肾脏疾病在FCAS中很少发生（2%）。结论：区分FCAS与其他周期性发热的最一致的临床特征是与寒冷暴露、结膜炎、发病年龄、发作时间和常染色体显性遗传模式有关。在分析FCAS基因型和表型的基础上，我们制定了临床诊断标准，可用于区分FCAS与其他遗传性周期性发热综合征。
Background: Familial cold autoinflammatory syndrome (FCAS), commonly known as familial cold urticaria, is a rare autosomal dominant inflammatory disorder with episodic symptoms precipitated by exposure to cold.Objective: The goal of this study was to formulate clinical diagnostic criteria for FCAS in a large cohort in whom the diagnosis of FCAS was supported by genetic linkage to chromosome 1q44.Methods: We assessed 45 affected and 68 unaffected members from 6 American families. DNA analysis was performed to confirm linkage to chromosome 1q44. Clinical characteristics were determined by means of analysis of detailed questionnaires and medical histories.Results: Pedigree and genetic analyses confirmed autosomal dominant transmission and linkage to chromosome 1q44 in all families. The most consistent symptom during attacks were rash (100%), fever (93%), arthralgia (96%), and conjunctivitis (84%). Age of onset was within the first 6 months of life in 95% of affected subjects. The average delay between cold exposure and onset of symptoms was 2.5 hours, and the average duration of an episode was 12 hours. Renal disease with amyloidosis occurs infrequently in FCAS (2%).Conclusion: The most consistent clinical characteristics of FCAS that discriminate it from other periodic fevers are association with cold exposure, conjunctivitis, age of onset, duration of episodes, and an autosomal dominant inheritance pattern. On the basis of the analysis of genotype and phenotype of FCAS, we formulated clinical diagnostic criteria that can be used to distinguish FCAS from other hereditary periodic fever syndromes.