[Hailey-Hailey disease. Early detection of heterozygotes by an ultraviolet provocation tests--clinical relevance of the method].
[Hailey-Hailey disease. Early detection of heterozygotes by an ultraviolet provocation tests--clinical relevance of the method].
复制标题
[海莉-海莉病。
DOI：
--
复制
发表时间：
1993
期刊：
影响因子：
--
通讯作者：
W. Harth
中科院分区：
文献类型：
--
作者：
G. Richard;R. Linse;W. Harth
建立了一种检测黑利-黑利病基因型携带者的紫外线激发试验，并对8个家庭的30名未患病家庭成员进行了检测。结果10例为基因型携带者，无临床症状。我们在3年的随访期间（家庭登记法）检查了紫外线刺激试验的可靠性。在通过紫外线刺激试验确定的50%的携带者中，在这一时期出现了黑利-黑利病的首次临床表现。所有紫外线刺激试验结果阴性的个体均保持临床健康。到目前为止，我们的结果与紫外线刺激试验已证实了80%的病例的临床发展。紫外激发试验是测定黑利病基因型携带者的一种实用、可靠的方法。
An UV provocative test to identify genotypical carriers of Hailey-Hailey disease was developed, and performed on 30 non-affected family members of 8 families. The test revealed that 10 individuals were genotypical carriers without clinical signs. We checked the reliability of the UV provocative test during a 3-year follow-up period (family register method). In 50% of the carriers identified by the UV provocative test the first clinical manifestations of Hailey-Hailey disease developed in this period. All individuals with negative UV provocative test results remained clinically healthy. Up to now our results with the UV provocative test have been verified by the clinical development in 80% of cases. The UV provocative test is a practicable and reliable method of determining genotypical carriers of Hailey-Hailey disease.