Clinical Analysis Of 14 Tuberous Sclerosis Complex Cases With Pulmonary Involvement

Objective To improve the understanding of the natural history of tuberous sclerosis complex(TSC) with pulmonary involvement by the analysis of clinical features,diagnosis,management,and prognosis of Chinese TSC patients with pulmonary involvement.Methods The detail of one case of TSC with pulmonary involvement treated at the first affiliated hospital of Zhejiang University medical college was retrospectively analyzed and reviewed together with those of 13 cases previously reported from the literature.These data were compared with those foreign studies.Results Among the 14 caes,11 cases were female(79%),3 cases were male (21%).The age of the first Pulmonary symptoms appeared ranged from 4 years to 50 years.Mean age at the onset of symptoms was 31 years(31±13 years).The clinical features at the time of onset were spontaneous pneumothorax(5/14,36%),exerted dyspnea(2/14,14%),cough(3/14,21%),hemoptysis(2/14,14%),fever(1/14, 7%),parts of patients could appear without any symptoms(5/14,36%).Meanwhile, major clnical features during the course of TSC with pulmonary involvement were exerted dyspnea(6/14,43%),spontaneous pneumothorax(6/14,43%),cough (4/14,29%),hemoptysis(2/14,14%),sputum(1/14,7%),chest pain(1/14, 7%),wheeziness(1/14,7%),fever(2/14,14%).The common manifestation beyond the pulmonary symptoms including skin diseases(8/14,57%),epilepsy(5/14,36 %),mental tardation(1/14,29%),brain diseases(12/14,86%),kidney disabilities (12/14,86%),liver diseases(4/14,29%).The characteristic thin-walled cysts diffusely distributing throughout both lung fields on the chest computed tomographic scanning occurred in all 11 cases who had already received this scanning.14 cases were comfirmed by pulmonary symptoms,imaging or pathological results.14 cases got results of either chest X ray or computed tomography display.One case got pathological result through surgery,whereas another case got pathological result through pulmonary biopsy,and 2 cases got gene testing results.All cases lacked prognostic datas.Conclusions TSC is a rare autosomal dominant disease.The incidence of TSC with pulmonary involvement is 34%,described classically as ocurring in women of reproductive age.The etiology and clinical characteristics of Chinese TSC patients with pulmonary involvement include exerted dyspnea, spontaneous pneumothorax,cough,hemoptysis,and diffuse cystic shadowing throughout both lung fields on high resolution computerized tomography(HRCT).The prognosis of Chinese TSC patients with pulmonary involvement is still unknown.Since there has been no effective ways to cure the disease,new therapies to improve the prognosis of TSC patients with pulmonary involvement ought to be researched in the future.