Wei, Wei

Abstract Background: Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China.Methods: After the first patient with BHDS was recognized in 2017, a Rare Lung Disease Clinic with a multidisciplinary team of specialists was established. We retrospectively analyzed the data of consecutive patients with BHDS encountered from inception to December 2021.Results: There were 1, 1, 15, 12 and 21 cases with BHDS diagnosed from year 2017 to 2021, respectively. All 50 patients (34 women) were of Han race with a mean age of 47.3 years. The common manifestations were pulmonary cysts (98%), pneumothorax (54%) and skin lesions (68%). Renal cancer was detected in two patients and renal angiomyolipoma in four other patients. The main presentations leading to diagnosis were pneumothorax (42%), family screening (36%) and lung cysts identified on radiologic imaging (20%). The average delay in diagnosis was 8.3 years, and 4.7 years in patients with only pulmonary cysts. The most frequent pathogenic variant was c.1285del/dup on exon 11 (23%) among 44 patients confirmed by genetic testing. Renal cancer has not been found on follow-up surveillance thus far.Conclusions: There has been increasing number of patients with BHDS recognized in China, facilitated by establishment of a Rare Lung Disease Clinic. Pulmonary cysts and pneumothorax were commonly encountered features, but skin lesions appeared to be more prevalent in Chinese subjects than previously reported in other Asian countries.

Abstract An ongoing outbreak of Coronavirus Disease 2019 (COVID-19) has spread around the world. However, the clinical characteristics and outcomes of patients with COVID-19 related to different modes of exposure have not been well defined. We aimed to explore the clinical features and outcomes of COVID-19 related to one-time community exposure versus continuous household exposure. Retrospective case–control study involving COVID-19 patients admitted to a tertiary designated center in China was performed. Patients were enrolled if they had known exposure history of one-time community exposure or continuous household exposure. Twenty patients were compared in terms of demographic characteristics, clinical presentation, chest CT images, laboratory results, treatments, and clinical outcomes at 1-month follow-up. There were 10 patients in one-time community and continuous household exposure groups respectively. Males compromised 80% and 40% while the median ages were 37.5 and 51 years old in the 2 groups, respectively. Fever and cough were most common symptoms. Ground-glass opacities were presented on chest CT scan in 90% and 70% of the patients, and the median CT scores were 7 and 16 on admission, respectively. Three patients ranked severe in the community exposure group while 7 patients were severe or critical in household exposure group. On 1-month follow-up, all patients were improved clinically but COVID-19 IgG antibody detected positive. Median follow-up CT scores were 0 and 13 while pulmonary function test abnormalities were 0/9 and 2/7 in the 2 groups, respectively. COVID-19 patients with one-time community exposure tended to be mild in severity and had better outcomes, comparing to those with continuous household exposure.