Birt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese Family

Lin, Zhongqiu; Gong, Kenan; Pang, Bo; Zeng, Changqing; Zhang, Dake

doi:10.2169/internalmedicine.53.2814

Cited by 3 publications

(2 citation statements)

References 21 publications

(26 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As the most serious clinical manifestation of BHD, screening for renal tumours at the time of diagnosis or from the age of 20 years is crucial to improve the prognosis. 48 However, only 9 patients 16 , 18 , 21 , 24 , 29 , 37 , 38 in our analysis who had a record age of diagnosis of renal cancer were also diagnosed with BHD within one year. Most of these patients were considered to have BHD because of pulmonary cysts or a history of pneumothorax on routine screening at the time of renal cancer surgery.…”

Section: Discussionmentioning

confidence: 72%

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Zhou¹,

Liu²,

Xu³

et al. 2022

IJGM

View full text Add to dashboard Cite

Background Birt–Hogg–Dubé syndrome (BHD), also named Hornstein–Knickenberg syndrome, is a rare autosomal dominant disease characterized by lung cysts, recurrent pneumothoraxes, renal cell carcinoma and skin fibrofolliculomas. Purpose This study summarizes the clinical and genetic information of Chinese BHD patients from all available reported cases and explores the relationship between the clinical and genetic spectrum in the hope of improving the prognosis of Chinese BHD patients. Methods Relative studies were collected by searching PubMed, Cochrane Library, Embase, OVID medicine, SinoMed, Web of Science, China National Knowledge Infrastructure, Wanfang Data and China Hospital Knowledge Database from January 1, 1977 to December 31, 2021. The search strategy included the following term keys: (Birt–Hogg–Dubé syndrome OR Hornstein-Kinckenberg syndrome OR familial pulmonary cysts OR familial spontaneous pneumothorax OR fibrofolliculomas OR trichodiscomas OR inherited renal cancer syndromes OR FLCN ) AND (Chinese OR China). Results In total, 287 Chinese patients from 143 families described in 31 references were included in this article. Chinese BHD patients tended to present more pulmonary symptoms but fewer skin lesions and renal malignancies, which appeared to be atypical when compared with Caucasian patients. The FLCN mutation spectrum among Chinese BHD patients was established with the mutational hot spot c.1285depC/delC as the most frequent mutation. In addition, this mutation spectrum also showed some differences from other races, with a relatively frequent large deletion c.872–429_1740+1763del (exon 9–14 deletion) reported only in Chinese individuals but no observation of the two mutational hot spots found in Japanese individuals. We also attempted to establish potential pheno-genotype correlations in Chinese BHD patients, but the results were negative. Conclusion To improve the prognosis of BHD patients, physicians need to increase their awareness of BHD by focusing on the family history of pneumothorax as well as skin lesions in patients with lung cysts and promptly advising patients on genetic sequencing.

show abstract

Section: Discussionmentioning

confidence: 72%

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Zhou¹,

Liu²,

Xu³

et al. 2022

IJGM

View full text Add to dashboard Cite

show abstract

“…1). Using the study criteria outlined above, 221 cases from 120 families with BHDS were included in the final analysis, which were reported in 20 papers (Table 1) [8][9][10][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28]. In 2008, the first 10 families with spontaneous pneumothorax and positive FLCN mutations in the Chinese population were described by a research team at Nanjing University [8].…”

Section: Demographic Datamentioning

confidence: 99%

Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

Chen

2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

Objective To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. Methods We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. Results Twenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%). Conclusions Although BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.

show abstract

The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome

Guo¹,

Shen²,

Ouyang³

et al. 2020

Ann Transl Med

View full text Add to dashboard Cite

Background: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disease that has been characterized by skin lesions, multiple pulmonary cysts, spontaneous pneumothorax, and renal tumors, but the patients in Asian countries may show fewer symptoms. We aimed to explore and summarize the clinical features of BHD patients in East Asia to facilitate early diagnosis and timely interventions.Methods: We collected and analyzed the clinical data of patients diagnosed with BHD in our hospital by reviewing medical records. We performed a systematic literature search regarding the presenting clinical features in BHD patients from China, Japan, and Korea and then reviewed the publications that were identified.Results: In our hospital, 10 patients were diagnosed with BHD from April 2015 to September 2019.After reviewing the literature, we recruited 38 articles, including 12, 20, and 6 reports from China, Japan, and Korea, respectively. A total of 166 patients were included in this study, and 100 of them (60.2%) were females. Multiple pulmonary cysts were present in 145 patients (87.3%), and 124 patients (74.7%) had a history of pneumothorax on at least one occasion. Skin biopsy confirmed fibrofolliculomas (FFs) alone in 22 patients (13.3%), trichodiscomas (TDs) alone in 3 patients (1.8%), and both FFs and TDs in 7 patients (4.2%). Renal carcinoma only occurred in 12 (7.2%) patients. The most frequent genetic mutations in East Asian patients were c.1285delC on exon 11 (18.4%), c.1285dupC on exon 11 (18.4%), and c.1347_1353dupCCACCCT on exon 12 (8.2%).Conclusions: Our findings suggested that pulmonary cysts are the most frequent radiological findings, and pneumothorax is the most common symptom in East Asian patients with BHD, and that skin lesions and kidney involvement are less frequent. To make an early diagnosis and minimize the severity of complications, careful observation, and timely genetic examination of the FLCN gene is essential.

show abstract

Birt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese Family

Cited by 3 publications

References 21 publications

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome

Contact Info

Product

Resources

About