Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment
复制标题
DOI：
10.1111/imj.13429
复制
发表时间：
2017-06-01
影响因子：
2.1
通讯作者：
Trainer, Alison H.
中科院分区：
文献类型：
--
作者：
Huq, Aamira J.;Bogwitz, Michael;Trainer, Alison H.
背景：Gorlin 综合征（痣样基底细胞癌综合征）是一种罕见的遗传易感性，可导致基底细胞癌 (BCC)、颌角化囊肿和大脑镰钙化等临床特征。随着用于治疗 BCC 的 sonic hedgehog 抑制剂的出现，及时建立 Gorlin 综合征个体队列并收集这些个体的标准化表型信息。此外，戈林综合征患者的健康相关生活质量 (QoL) 尚未得到充分研究。目的：建立维多利亚州戈林综合征队列并研究这些个体的生活质量。方法：通过查阅维多利亚州两个主要三级/四级遗传转诊中心的个人医疗记录来获得表型数据，然后在可能的情况下进行电话或面对面访谈。 QoL 信息是利用 AQoL-6D 生活质量调查表获得的。结果：所研究的 19 名个体中 BCC 的中位数为 17.5（四分位数间距 3-70）。该组中 = 100 例 BCC 的患者数量与之前描述的全国队列相似（分别为 22.2% 和 27%）。转诊至遗传学诊所的病例中，总共 58% 来自颌面外科医生，42% 来自皮肤科医生。与 BCC = 100 的个体相比，其中位 QoL 得分更差
Background: Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to basal cell carcinomas (BCC), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCC, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health-related quality of life (QoL) in individuals with Gorlin syndrome is not well studied.Aim: To establish a Victorian cohort of Gorlin syndrome and study the QoL in these individuals.Methods: Phenotypic data were obtained by reviewing medical records of individuals attending two major tertiary/quaternary genetic referral centres in Victoria, followed by telephone or face-to-face interviews where possible. QoL information was obtained utilising the AQoL-6D quality of life survey form.Results: The median number of BCC in the 19 individuals studied was 17.5 (interquartile range 3-70). The number of patients with = 100 BCC in this group was similar to a previously described national cohort (22.2 vs 27% respectively). A total of 58% of referrals to the genetics clinics originated from maxillofacial surgeons and 42% from dermatologists. Individuals with = 100 BCC had worse median QoL scores compared to those with