Cystic fibrosis * Gen in Long arm of Chromosome 7 Over 7000 people in Uk are affected . It is the commonest genetic disses in white populations ( 1 in 2500 newborns ) . -------- Causes : - Mutation in CFTR gene. The commonest mutation is deletion in phenylalanine at codon 508 ( recently known as delta.F508 ). Over 1600 mutation of CFTR gene have been described. The primary function of CFTR is ion channel. ------- Clinical features: - The upper and lower air way . ( Lung: high rate of sodium absorption and Lowe rate of chloride secretions, depletes peri-ciliary liquid, mucus adheres the airway surface, lead to decrease mucus clearing) - Pancreas ( lead to retention of enzymes in the pancreas) - Intestine ( Decrease in water secretion leads to thickened mucus and dessicated intraluminal contents , Obstruction of small and large intestines ) - Biliary tree ( Retention of biliary secretion, focal biliary cirrhosis, chronic cholecystitis, cholelithiasis) - Sweat ( inability to reabsorb NaCl from sweat as it passes through sweat duct ) - Bowl - Reproductive system Lung disease is the most cause of death. -------- Age related to presentation of cystic fibrosis: - antenatal : Chronic villous sampling and amniocentesis. In high risk family . Echogenic Bowl in ultrasound. -Neonatal : Diagnosis made in newborn screening ; meconium ileus( 10%) . - infant and young children: Recurrent respiratory symptoms ( cough, wheeze, pneumonias). Failure to thrive . - Older children and adults: Recurrent respiratory symptoms as above. Male infertility. ------ Diagnoses: - sweat test ( <60 mmol/l, diagnostics; 40-60 mmol/l; intermediate,but more lickly to be dignostic in infants; <40 mmol/l, normal ) ( 1-2% of patients have normal sweat test ) - Guthrie blood spot test ( IRT ) ( used for newborn who don't produce enough sweat for sweat test ) - Identified mutation on CFTR ( the test are 80-85% accurate) - In Vivo dominstration of characteristics abnormality in ion transport across nasal epithelium. - Other test ( Focal fat, measurement of pancreatic function, chest X-Ray , Lung function test) --------- Treatment •Major objective: - Promote clearness of secretions - Control lung infection - Provide adequate Nutrition - Prevent intestinal obstruction •Lung - bronchodilators - Breathing exercises - Postural drainage - Percussion - Lung transplantation • Gastrointestinal - Maintain breast feeding, supply the diet with high calorie, high protein nutrition. - Replacement of fat soluble vitamins - Insuline for hyperglycemia •Bone : - Ca , vitamin D ( ? ) , exercise Management of common complication of cystic fibrosis: Upper airway : - Polyps ----> Topical steroids; antibiotics; surgery if medical management fails. - Sinusitis -----> the same as above Endocrine pancreas : - Insulin deficiency; frank diabetes ----- > Insulin; continue high fat diet; oral hypoglycaemic agent rarely useful. Bones : - Osteopenia; pathological fracture -----> prevention : weight bearing exercise, high dairy intake, vitamin D and K therapy. - Cystic fibrosis arthopathy -----> anti-inflammatory agents. Sweat gland : - Failure to thrive, acute collapse -----> sodium and potassium chloride supplementation. Male reproductive tract : - Bilateral absent of vas deferens-----> sperm aspirations, and assisted fertilization techniques. Female reproductive tract: - Vaginal candidiasis; stress incontinece----> topical antifungal agent. ------------------

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