Kijlertsuphasri Supiya, Petnak Tananchai, Moua Teng
Division of Pulmonary and Critical Care Medicine, Mayo Clinic, 200 First St SW, 55905, Rochester, MN, USA.
Division of Pulmonary and Pulmonary Critical Care Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Salaya, Thailand.
BMC Nephrol. 2024 Oct 1;25(1):329. doi: 10.1186/s12882-024-03775-9.
Birt-Hogg-Dube (BHD) syndrome is a rare genetic condition associated with the development of renal tumors. This study aims to determine typical age ranges for detecting renal abnormalities, risk factors for tumor development, and long-term outcomes based on current surveillance strategies.
A single-center multi-site retrospective cohort study was performed on all patients with BHD diagnosed from 2000 to 2023. Baseline demographics, pulmonary function, laboratory, radiologic, and histopathologic findings were collected. Logistic regression was used to assess predictor variables for the development of renal tumors with survival analysis evaluated from the date of BHD diagnosis to date of death or last known follow-up.
The study included 149 patients with BHD, 39 (26%) with diagnosed renal tumors, of which 28 had histopathologic confirmation. Mean age at renal tumor detection was 53.61 years. Older age and male sex were predictive of renal tumor development ((odds ratio 1.05; 95% CI, 1.01-1.08, P = 0.002) and (odds ratio 2.59; 95% CI, 1.17-5.73, P = 0.02), respectively). Time to all-cause mortality appeared shorter in those with renal tumors (Log-rank P = 0.02), though no deaths were from cancer or cancer-related complications.
Current screening protocols for renal tumors in BHD suggest the most common presenting age range for presentation is late 40s to early 50s, with older age and male sex as risk factors for tumor development.
Birt-Hogg-Dube（BHD）综合征是一种与肾肿瘤发生相关的罕见遗传病。本研究旨在根据当前的监测策略，确定检测肾脏异常的典型年龄范围、肿瘤发生的危险因素以及长期预后。
对2000年至2023年诊断为BHD的所有患者进行了一项单中心多部位回顾性队列研究。收集了基线人口统计学、肺功能、实验室、放射学和组织病理学检查结果。采用逻辑回归分析评估肾肿瘤发生的预测变量，并从BHD诊断日期至死亡日期或最后一次已知随访日期进行生存分析。
该研究纳入了149例BHD患者，其中39例（26%）诊断为肾肿瘤，其中28例经组织病理学证实。肾肿瘤检测的平均年龄为53.61岁。年龄较大和男性是肾肿瘤发生的预测因素（优势比分别为1.05；95%CI，1.01-1.08，P = 0.002）和（优势比2.59；95%CI，1.17-5.73，P = 0.02）。肾肿瘤患者的全因死亡时间似乎较短（对数秩检验P = 0.02），尽管没有死亡是由癌症或癌症相关并发症导致的。
目前BHD肾肿瘤的筛查方案表明，最常见的发病年龄范围是40多岁后期至50岁初期，年龄较大和男性是肿瘤发生的危险因素。
