Lung India最新文献

Background: Cystic fibrosis (CF) is a genetic disorder caused by genetic variant in the cystic fibrosis transmembrane regulator (CFTR) gene that affects around 89,000 people worldwide. Loss of the CFTR chloride channel due to pathogenic variants in the CFTR gene causes obstruction in the exocrine pancreas gland and reduced lung function.

Objective: To determine the genotype and phenotype of patients with CF from western India.

Materials and methods: This was a single-center retrospective cross-sectional study conducted in a tertiary care super speciality paediatric hospital of Mumbai, India, comprising patients aged 0 to 18 years visiting a paediatric pulmonology clinic with suspected or confirmed diagnosis of CF.

Results: The mean (SD) age of onset of symptoms was 6.8 (10.2) months and the mean (SD) age at diagnosis was 32.5 (50.5) months. The two most common genetic variants found in our patients were c. 1521_1523delCTT (F508del) (n = 21) and c.1367T>C (V456A) (n = 10). There were nine novel genetic variants identified that have not been reported so far. The mean (SD) age of onset of symptoms was 6.8 (10.2) months and mean (SD) age at diagnosis was 32.5 (50.5) months. The most common presenting features were recurrent respiratory infections (83%), malabsorption (79%), and failure to thrive (79%). Sweat chloride testing was conducted to establish the CFTR gene dysfunction and was positive in 79% (46/58) of patients and intermediate in 15% (n = 9/58) of patients. The two most common genetic variants found in our group of patients were c. 1521_1523delCTT (F508del) (n = 21) and c.1367T>C (V456A) (n = 10). There were nine novel genetic variants identified that have not been reported so far.

Conclusion: This study adds to the knowledge of genetic diversity in the pathogenic CFTR gene variants causing CF and highlights the importance of sequencing the entire CFTR gene as regional variations in the gene have been documented in India.

We present a case of tracheal necrosis due to mucormycosis in a young diabetic male. He presented with stridor due to airway obstruction from the necrosed tracheal wall. We used a silicon tracheal stent to maintain airway patency and support the airway. This case highlights the use of tracheal stenting to stabilize the airway in an extremely necrosed and friable trachea, which is not fit for surgical resection due to the involvement of the long segment of the trachea. To the best of our knowledge, the use of stents to stabilize necrosed tracheal walls in cases of mucormycosis has not been reported so far.

The burden of autoimmune diseases is rising worldwide. The expansion of the population of patients eligible for severe asthma biological therapy we are seeing in clinical practice could lead to the simultaneous use of different monoclonal antibodies. We present the case of biological combination therapy with ustekinumab and benralizumab in a patient with ulcerative colitis and severe eosinophilic asthma. The patient, already undergoing biological treatment for colitis, began to suffer from uncontrolled severe asthma. Since benralizumab was administered, the patient has not experienced any exacerbations requiring oral corticosteroids, emergency department visits, or hospital admissions, and the control of asthma symptoms and respiratory function considerably improved. Twelve months after the initiation of the combination, both diseases are well controlled, without any side effects or blood test abnormalities. To our knowledge, this is one of the first reported cases of patients simultaneously receiving a combination of biological therapy for ulcerative colitis and asthma.