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首页> 外文期刊>Orphanet journal of rare diseases >Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema
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Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

机译：所有丹麦遗传性血管性水肿患儿的临床特征和现实诊断方法

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BackgroundWith a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted early, which can be difficult. Studies of childhood HAE and the diagnostic approaches are limited. Our aim was to investigate the entire Danish cohort of children with HAE and non-HAE children of HAE patients for diagnostic approaches and clinical characteristics. ResultsWe included 41 children: 22 with HAE and 19 non-HAE. Of the HAE children, 14 were symptomatic—median age at onset was 4 [1–11] years. The first attack was peripheral in 8/14 children and abdominal in 6/14 children, i.e. no one had their first attacks in the upper airways. Most children had less than one attack per month. All of the symptomatic children had been treated with tranexamic acid and/or C1 inhibitor concentrate. Unlike in other countries, androgens were not used in our pediatric cohort. Home therapy with C1 inhibitor concentrate was established in 9 cases: 6 children were trained in self-administration and 3 children were treated by parents. Of the children, 10 had been diagnosed by symptoms, including 3 without family history—median age of diagnosis among these children was 5.35 [2–13.2] years. In 31 children, HAE was diagnosed or refuted before symptoms by blood samples. In 23 of these children, complement values were investigated, and in 9 cases genetic testing was added to the complement measurements. In 8 children recently investigated, genetic testing was first choice. Cord blood was used for complement measurements in 9 children and for genetic testing in 4 children. Results of complement measurements were equivocal in several cases, especially in the cord blood samples, and the sensitivity of low complement C4 for the diagnosis of HAE was 75%. ConclusionsWe investigated clinical characteristics in all Danish children with HAE. The rate of home therapy was high and androgens had been avoided. Complement values were often equivocal, especially in cord blood samples. Consequently, we have changed diagnostic practice to early genetic testing in children where the family mutation is known.
机译：背景遗传性血管性水肿（HAE）可能在早期发作，因此在婴儿期和幼儿期也需要特殊知识。对于患有HAE的家庭的儿童，应尽早确认或驳回诊断，这可能很困难。儿童HAE及其诊断方法的研究是有限的。我们的目的是调查HAE患者的所有丹麦儿童和HAE儿童的非HAE儿童的诊断方法和临床特征。结果我们纳入了41名儿童：22名患有HAE的儿童和19名非HAE的儿童。在HAE儿童中，有14位是有症状的-发病中位年龄为4 [1-11]岁。第一次发作是8/14岁儿童的外周发作，腹部发作是6/14岁儿童，即没有人在上呼吸道发生首次发作。大多数孩子每月发作少于一次。所有有症状的儿童均已用氨甲环酸和/或C1抑制剂浓缩液治疗。与其他国家不同，我们的儿科队列未使用雄激素。在9例患者中建立了使用C1抑制剂浓缩物的家庭疗法：对6名儿童进行了自我管理培训，并对3名儿童进行了父母治疗。在这些孩子中，有10名被诊断出症状，其中3名没有家族史-这些孩子的中位诊断年龄为5.35 [2-13.2]岁。在31名儿童中，血样被诊断出或被排除在HAE症状之前。在其中的23名儿童中，对补体值进行了调查，在9例中，对补体测量结果进行了基因检测。在最近接受调查的8名儿童中，基因检测是第一选择。脐带血用于9名儿童的补体测量和4名儿童的基因检测。补体测量的结果在某些情况下是模棱两可的，尤其是在脐血样本中，低补体C4诊断HAE的敏感性为75％。结论我们调查了所有丹麦HAE患儿的临床特征。家庭疗法的比率很高，因此避免了雄激素的使用。补体值通常是模棱两可的，尤其是在脐血样本中。因此，我们已将诊断实践改为对已知家庭突变的儿童进行早期基因检测。

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