Clinical Features Of Adult Dyskeratosis Congenita Lung Involvement:a Case Report And Literature Review

Objective: This paper is aimed to investigate the clinical characteristics of adult dyskeratosis congenita(DC)lung involvement,improve the clinical understanding and treatment level,and reduce missed diagnosis and misdiagnosis.Methods: This paper would analyze the clinical characteristics of one patient with lung disease in dyskeratosis congenital,which was proven histopathologically in the First Affiliated Hospital of Guangxi Medical University.The clinical manifestation,imaging,pathology,lung function and family history will be analyzed combining with the discussion of domestic and international literatures.Results:(1)The patient in this case was a male,38 years old,and his main symptoms were dry cough and exertional dyspnea.Seen through physical examination,there were telangiectasia on the skin of face,neck and front chest.Partial tooth fell out and the leukoplakia of tongue could be observed.Pigmentation was seen on the anterior tibial skin.Toenails had mild malnutrition.The sound of pulmonary respiration was rough without the sound of Velcro.He had non-severe aplastic anemia and both the pulmonary high resolution CT and histopathology were consistent with UIP manifestation.The pulmonary function showed mild restrictive ventilatory dysfunction and mild diffuse dysfunction.Hormone therapy was effective.In his family,his mother and brother were suspicious dyskeratosis congenita patients.There were TERT and TCAB1 gene mutations in his body.(2)Literature review results: I searched the Chinese and English reports of cases of pulmonary involvement from January 1992 to December 2016,and retrieved 15 documents.There were a total of 16 patients,including 11 males(64%)and 5 females(36%),with a minimum age of 9 and a maximum age of 48.The average onset age of lung involvement was 28.31.9 patients have survived after onset and the average survival time was 16.2 months after onset.The main symptoms were cough and shortness of breath after exercise.The main signs were pigmented reticular pigmentation of the skin,leukoplakia and onychodystrophy.Some patients could be heard Velcro sounds in the lungs.Lung histopathology and chest HRCT were UIP changes.Pulmonary function suggested different levels of restrictive ventilatory dysfunction and / or diffuse dysfunction.Hormone therapy was effective for partial patients.1 patient underwent lung transplantation and 18 months later,the symptoms and pulmonary function were improved.1 patient was treated with danazol and died of sepsis 2 years later.Conclusion:(1)DC lung involvement is rare in clinic.For partial patients,it conceals onset and progresses slowly.(2)DC lung involvement patients have onsets of cough and shortness of breath after exercise,and some patients’ lungs could be heard the sound of Velcro.(3)The typical imaging and pathological manifestations of DC lung involvement patients are UIP,and the pulmonary function shows ventilatory dysfunction and / or diffuse dysfunction.(4)There were TERT and TCAB1 gene site mutations in patient’s body in this case,which might be disease-causing genes.(5)Hormone is effective for partial patients.