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Genetic disorder autosomal recessive the first sign

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- genetic disorder (Autosomal recessive) The first sign Is a Meconium in newborns, if affects the skin (salty), abdominal distension, Steatorrhea (fatty, frothy, stinky stool, the mucus will obstruct the lungs in your airway and it’s a growing place for bacteria. Can also cause sterility in men, affects the flow of enzymes out of the pancreases causing malabsorption syndrome Cystic Fibrosis Inherited (genetic) disorder caused by chromosome seven Tenacious mucus from exocrine gland Primarily effects seen in lungs and pancreas Lungs Mucus obstructs airflow in bronchioles and small bronchi Permanent damage to bronchial walls Infections are common: commonly caused by P. aeruginosa and S. aureus  Digestive Tract Meconium ileus in newborns Blockage of pancreatic ducts
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Obstruction of bile ducts Salivary glands often mildly affected Reproductive tracts Obstruction of vas deferens (male) Obstruction of cervix (females) Sweat glands Sweat with high sodium chloride content Signs & Symptoms Meconium ileus may occur at birth Salty skin- may lead to sweat test and diagnosis of cystic fibrosis Signs of malabsorption: Steatorrhea, abdominal distension Chronic cough and frequent respiratory infections tend to increase over  time Failure to meet normal growth milestones Diagnosis Genetic testing Sweat test Testing of stools Radiographs, pulmonary function test Blood gas analysis Treatment Interdisciplinary approach: replacement therapy and well-balanced diet as  well as chest physiotherapy Lung Cancer : symptoms are late and consistent cough the cause if from smoking over an extended period of time Lung Cancer About 90% of cases are related to smoking Bronchogenic carcinoma: most common type of malignant lung tumor  arising from the bronchial epithelium Lung tumor effects Obstruction of airflow into a bronchus Inflammation and bleeding surrounding the tumor Pleural effusion, hemothorax, and pneumothorax Usually systemic effects of cancer Early Signs:  persistent productive cough, seen on radiograph, Hemoptysis, pleural  involvement, chest pain, hoarseness, facial or arm edema, HA, dysphagia, or  atelectasis Systemic signs:  weight loss, anemia, and fatigue Paraneoplastic syndrome:  indicated by signs of and endocrine disorder that are  related to the specific hormone secreted Signs of metastases:  bone pain, cognitive deficits, and motor deficits
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Diagnostic test Specialized helical CT scans and MRI Chest radiographs Bronchoscopy Biopsy and mediastinoscopy Treatment Surgical resection or lobectomy Chemotherapy and radiation Photodynamic therapy Asthma : a reversible disorder, you can treat it and control it Avoid- smoking, animals, dust (environmental triggers) Exercise induced asthma is a type
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