tailieunhanh - THE PEDIATRICS CLERKSHIP - PART 5

Định nghĩa dịch bệnh của các tuyến ngoại tiết là nguyên nhân gây tiết nhớt: suy tuyến tụy nhiễm trùng đường hô hấp mãn tính tăng điện giải trong mồ hôi nguyên nhân Khuyết tật của cyclic adenosine monophosphate (cAMP) clorua kênh kích hoạt của các tế bào biểu mô ở tuyến tụy, tuyến mồ hôi, | CYSTIC FIBROSIS CF Cystic fibrosis is the most common lethal inherited disease of Caucasians. HIGH-YIELD FACTS The gene for cystic fibrosis is CFTR the mutation is delta f508. A patient with severe CF breathing room air can have an arterial blood gas ABG showing decreased chloride and increased bicarbonate. - Typical Scenario ----- A 3-year-old has had six episodes of pneumonia with Pseudomonas being isolated from sputum loose stools and is at the 20th percentile for growth. Think CF. False-positive sweat test not CF Nephrogenic diabetes insipidus Myxedema Mucopolysaccharidosis Adrenal insufficiency Ectodermal dysplasia Definition Disease of exocrine glands that causes viscous secretions Chronic respiratory infection Pancreatic insufficiency Increased electrolytes in sweat Etiology Defect of cyclic adenosine monophosphate cAMP -activated chloride channel of epithelial cells in pancreas sweat glands salivary glands intestines respiratory tract and reproductive system Autosomal recessive Pathophysiology Chloride does not exit from cells. Increased osmotic pressure inside cells attracts water and leads to thick secretions. Epidemiology Most common cause of severe chronic lung disease in children. Signs and Symptoms Respiratory Cough most common pulmonary symptom Wheezing dyspnea exercise intolerance Bronchiectasis recurrent pneumonia Sinusitis nasal polyps Reactive airway disease hemoptysis Increased AP chest diameter Hyperresonant lungs Clubbing of nails Gastrointestinal GI Failure to thrive Meconium ileus 10 Constipation rectal prolapse Intestinal obstruction Pancreatic insufficiency Malabsorption Fat-soluble vitamin deficiencies Glucose intolerance Biliary cirrhosis uncommon jaundice ascites hematemesis from esophageal varices Reproductive tract decreased absent fertility female thick cervical secretions male azoospermic Sweat glands Salty skin Hypochloremic alkalosis in severe cases Complications may include pneumothorax chronic pulmonary hypertension cor .