Department of Thoracic Surgery, University Campus Bio-Medico, Via Alvaro Del Portillo 21, Rome, 00128, Italy.
Department of Thoracic Surgery, University College London Hospitals, NHS Foundation Trust, 16-18 Westmoreland Street, London, W1G 8PH, UK.
Respir Med. 2020 Jul;168:105995. doi: 10.1016/j.rmed.2020.105995. Epub 2020 May 6.
Brit-Hogg-Dubé syndrome (BHD) is a rare disorder that is estimated to affects about 600 families in the World. The disease-causing mutations is on FLCN gene which codes for folliculin. This protein has a role in different organs as skin, kidney and lung, thanks to the interaction with type I and II cadherins, RhoA activity and the regulation of AMPK, mTORC1 pathways and cell adhesion. The aim of our study is to focus on the manifestation of the syndrome, especially the pulmonary involvement, then on genetical analysis and on the available treatments.
We collected 15 previous studies where we found medical history information, clinical manifestations, radiological and histological diagnosis and genetical analysis.
The prevalence of pneumothorax in patients with BHD syndrome was about 65%, but the lung involvement with multiple small cysts, localized especially in the lower part, was 85%. The prevalence of renal involvement in BHD patients ranged from 6.5% to 34%, while skin lesions ranged from 11% to 50%. More than 150 FLCN germline has been described, though the mutation in exon 11 is the most frequently detected, especially among Caucasian population.
BHD syndrome is rare and usually the first manifestations appear in early age. In patients with these clinical and radiological characteristics we suggest taking a careful medical history, though the diagnosis of BHD syndrome should be confirmed with the analysis of FLCN gene.
Brit-Hogg-Dubé 综合征（BHD）是一种罕见疾病，据估计全球约有 600 个家族受到影响。致病突变位于 FLCN 基因上，该基因编码滤泡素。这种蛋白质在皮肤、肾脏和肺部等不同器官中发挥作用，这要归功于与 I 型和 II 型钙粘蛋白的相互作用、RhoA 活性以及 AMPK、mTORC1 途径和细胞黏附的调节。我们研究的目的是关注该综合征的表现，特别是肺部受累情况，然后是基因分析和可用的治疗方法。
我们收集了 15 项先前的研究，从中找到了有关病史信息、临床表现、放射学和组织学诊断以及基因分析的信息。
BHD 综合征患者气胸的患病率约为 65%，但肺部受累伴多发性小囊肿，主要局限于下部，患病率为 85%。BHD 患者的肾脏受累患病率从 6.5%到 34%不等，而皮肤病变从 11%到 50%不等。已经描述了超过 150 种 FLCN 种系突变，但 11 号外显子的突变是最常检测到的，尤其是在白种人群中。
BHD 综合征较为罕见，通常最早的症状出现在早期。对于具有这些临床和放射学特征的患者，我们建议仔细询问病史，但应通过 FLCN 基因分析来确认 BHD 综合征的诊断。
