Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases.
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases.
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DOI：
10.1186/1471-2350-14-88
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发表时间：
2013-09-03
影响因子：
--
通讯作者：
Sundquist K
中科院分区：
文献类型：
--
作者：
Hemminki K;Li X;Försti A;Sundquist J;Sundquist K
淀粉样变性是一种由错误折叠蛋白的组织沉积引起的异质性进行性疾病。根据《国际疾病分类》，遗传性淀粉样变性分为神经性和非神经性两种。在瑞典，神经性遗传性家族性淀粉样变性已被确定为家族性淀粉样变性多神经病变（FAP），这是一种通过肝移植治疗的致命疾病。非神经性形式包括家族性自身炎症性疾病。由于没有这些遗传性疾病的发病率数据，甚至缺乏非神经性形式的诊断数据，我们确定了这些疾病的发病率并确定了非神经性疾病的特征。使用2001年至2008年瑞典医院出院登记簿和门诊登记簿的数据确定患者。纳入所有诊断为遗传性淀粉样变性的出院患者，并计算标准化发病率。210例患者被诊断为非神经性疾病，发病率为2.83 /百万人。221例患者被诊断为FAP，发病率为2.02% /百万人。占瑞典人口5%的两个北部省份占FAP病例的77%；其中西波斯尼亚的发病率是瑞典其他地区的100倍。大约98%的非神经性疾病患者是移民，其中大多数来自东地中海地区。年轻的叙利亚后裔发病率最高，比有瑞典父母的人高500多倍。即使是这些疾病的早期发病也被认为是家族性自身炎症性疾病。FAP病例高度集中在最北部的两个省。非神经性家族性自身炎症性疾病早发，移民起源，最可能与周期性发热综合征有关。矛盾的是，尽管国内有人口流动，但FAP仍然是地方病，而发病率高于FAP的家族性自身炎症性疾病是主要来自东地中海地区的移民带入该国的。
Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been identified as familial amyloidotic polyneuropathy (FAP), a fatal disease that is treated by liver transplantation. The non-neuropathic form includes familial autoinflammatory diseases. As no incidence data on these hereditary diseases are available and as even diagnostic data on non-neuropathic forms are lacking we determined the incidence of these diseases and characterized non-neuropathic conditions. Patients were identified using data from the Swedish Hospital Discharge Register and from the Outpatient Register for 2001 through 2008. All patients discharged with hereditary amyloidosis diagnoses were included and standardized incidence rates were calculated. Non-neuropathic disease was diagnosed in 210 patients, with an incidence of 2.83 per million. FAP was diagnosed in 221 patients, with an incidence of 2.02 per million. Two northern provinces that are home to 5% of the Swedish population accounted for 77% of FAP cases; the incidence in one of them, West Bothnia, was 100 times that in the rest of Sweden. Approximately 98% of non-neuropathic disease patients were immigrants, most of whom were from the Eastern Mediterranean area. Young Syrian descendants had the highest incidence rate, which was over 500-fold higher than that in individuals with Swedish parents. Even the early onset of these conditions identified them as familial autoinflammatory diseases. FAP cases were highly concentrated in the two northernmost provinces. Non-neuropathic familial autoinflammatory diseases were of early-onset and immigrant origin most likely related to periodic fever syndromes. Paradoxically, FAP has remained endemic, in spite of population movements within the country, while familial autoinflammatory diseases, with an incidence exceeding that of FAP, were brought into the country as a result of immigration mainly from the Eastern Mediterranean area.
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影响因子：
--
作者：
Verma, Deepti;Lerm, Maria;Sarndahl, Eva
通讯作者：
Sarndahl, Eva
影响因子：
2.4
作者：
Brown, Kelly L.;Wekell, Per;Berg, Stefan
通讯作者：
Berg, Stefan
影响因子：
--
作者：
Verma, Deepti;Eriksson, Per;Soderkvist, Peter
通讯作者：
Soderkvist, Peter
影响因子：
4.5
作者：
Hemminki, Kari;Li, Xinjun;Sundquist, Kristina
通讯作者：
Sundquist, Kristina
影响因子：
6.2
作者：
Herlenius, G;Wilczek, HE;Ericzon, BG
通讯作者：
Ericzon, BG