Birt - Hogg - Dube disorder: case reports

Q4 Medicine

Pulmonologiya Pub Date : 2023-04-14 DOI:10.18093/0869-0189-2023-33-2-266-272

S. Avdeev, N. Trushenko, I. Avdeev, A. M. Nikolenko, G. V. Neklyudovah

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引用次数: 0

Abstract

Birt - Hogg - Dubd (BHD) disorder is a rare inherited autosomal dominant disorder caused by germline mutations in the tumor suppressor gene FLCN, which encodes the protein folliculin. BHD disorder is characterized by benign skin hamartomas, kidney cancer, pulmonary cysts, and spontaneous pneumothorax. Currently, more than 600 cases of this disease have been described worldwide. Diagnosis of BHD disorder is based on clinical manifestations, family history, and genetic testing. We describe two patients (43 and 51 years old) who presented with a history of longstanding dyspnea and spontaneous pneumothorax. Based on the radiological characteristics and skin lesions, the patients were referred for genetic testing to confirm the diagnosis of BHD disorder.Aim. To study the current management of adult patients with BCD disorder. Timely diagnosis of BHD disorder has important preventive value because patients with this disease are at much higher risk for kidney cancer.Conclusion. The presented clinical cases demonstrate typical manifestations of BCD disorder with predominant involvement of the lungs and skin. The final diagnosis is confirmed by genetic testing of the coding sequence of the FLCN gene by direct automated sequencing. To date, there are no specific therapies for BCD disorder and treatment of the respiratory manifestations is limited to prevention and treatment of pneumothorax.

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伯特-霍格-杜伯症:病例报告

Birt - Hogg - Dubd (BHD)疾病是一种罕见的遗传性常染色体显性遗传病，由编码卵泡蛋白的肿瘤抑制基因FLCN的种系突变引起。BHD疾病的特征是良性皮肤错构瘤、肾癌、肺囊肿和自发性气胸。目前，全世界已报告了600多例这种疾病。BHD疾病的诊断是基于临床表现、家族史和基因检测。我们描述了两例患者(43岁和51岁)，他们表现出长期呼吸困难和自发性气胸的病史。结合影像学表现及皮肤病变情况，对患者进行基因检测，以明确BHD的诊断。目的:探讨成人BCD障碍的治疗现状。由于BHD患者患肾癌的风险较高，因此及时诊断具有重要的预防价值。本病例表现为典型的BCD疾病，主要累及肺部和皮肤。通过直接自动测序对FLCN基因编码序列进行基因检测，最终确诊。迄今为止，没有针对BCD疾病的特异性治疗方法，对呼吸症状的治疗仅限于预防和治疗气胸。

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来源期刊

Pulmonologiya Medicine-Pulmonary and Respiratory Medicine

CiteScore

1.40

自引率

0.00%

发文量

期刊介绍： The aim of this journal is to state a scientific position of the Russian Respiratory Society (RRS) on diagnosis and treatment of respiratory diseases based on recent evidence-based clinical trial publications and international consensuses. The most important tasks of the journal are: -improvement proficiency qualifications of respiratory specialists; -education in pulmonology; -prompt publication of original studies on diagnosis and treatment of respiratory diseases; -sharing clinical experience and information about pulmonology service organization in different regions of Russia; -information on current protocols, standards and recommendations of international respiratory societies; -discussion and consequent publication Russian consensus documents and announcement of RRS activities; -publication and comments of regulatory documents of Russian Ministry of Health; -historical review of Russian pulmonology development. The scientific concept of the journal includes publication of current evidence-based studies on respiratory medicine and their discussion with the participation of Russian and foreign experts and development of national consensus documents on respiratory medicine. Russian and foreign respiratory specialists including pneumologists, TB specialists, thoracic surgeons, allergists, clinical immunologists, pediatricians, oncologists, physiologists, and therapeutists are invited to publish article in the journal.