Prieto A, Tornero P, Rubio M, Fernández-Cruz E, Rodriguez-Sainz C
Allergy Service, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Allergy. 2009 Feb;64(2):284-6. doi: 10.1111/j.1398-9995.2008.01764.x.
A new type of hereditary angioedema (type III) affecting mainly women with normal C1-inhibitor level and function has been described. Exposition to estrogens is an important precipitating factor. Recently, a missense mutation in the gene of the blood coagulation factor XII (Hageman factor) has been reported in a few families with this type of hereditary angioedema.
To study a patient and her family with recurrent swelling attacks during pregnancy.
Complement factors C3 and C4 as well as C1-inhibitor level and function were determined. Genomic DNA was isolated from venous blood samples and screened for mutations in the coagulation factor XII gene.
C3 and C4 levels as well as C1-inhibitor level and function were normal. A missense mutation Thr309Lys was identified in factor XII gene with a heterozygotic pattern. This mutation was also identified in the mother of the patient, her daughter and her son.
These results support that the mentioned mutation in factor XII gene causes hereditary angioedema type III.
一种新型遗传性血管性水肿（III型）已被描述，主要影响C1抑制因子水平和功能正常的女性。接触雌激素是一个重要的诱发因素。最近，在一些患有这种类型遗传性血管性水肿的家族中，报道了凝血因子XII（哈格曼因子）基因的一个错义突变。
研究一名在怀孕期间反复出现肿胀发作的患者及其家族。
测定补体因子C3和C4以及C1抑制因子的水平和功能。从静脉血样本中分离基因组DNA，并筛查凝血因子XII基因中的突变。
C3和C4水平以及C1抑制因子的水平和功能均正常。在因子XII基因中鉴定出一个错义突变Thr309Lys，呈杂合模式。该突变也在患者的母亲、女儿和儿子中被鉴定出来。
这些结果支持因子XII基因中的上述突变导致III型遗传性血管性水肿。
