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CF Notes

Cystic fibrosis is a genetic disorder characterized by lung infections and issues digesting food. It is caused by mutations in the CFTR gene which regulates ion transport in epithelial cells of the lungs, pancreas, and other organs. The most common mutation is F508, which results in defective or absent CFTR protein. Management involves chest physiotherapy, nutritional support, antibiotics, mucus-thinning drugs, and bronchodilators. Diagnosis is made through chest x-ray, which shows signs of lung damage, and sputum culture identifying common infecting bacteria.

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40 views

CF Notes

Cystic fibrosis is a genetic disorder characterized by lung infections and issues digesting food. It is caused by mutations in the CFTR gene which regulates ion transport in epithelial cells of the lungs, pancreas, and other organs. The most common mutation is F508, which results in defective or absent CFTR protein. Management involves chest physiotherapy, nutritional support, antibiotics, mucus-thinning drugs, and bronchodilators. Diagnosis is made through chest x-ray, which shows signs of lung damage, and sputum culture identifying common infecting bacteria.

Uploaded by

X'san Ugay
Copyright
© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as DOCX, PDF, TXT or read online on Scribd
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IT IS AN INHERITED MULTISYSTEM DISORDER OF CHILDREN AND ADULTS CHARACTERIZED BY INFECTION OF AIRWAYS AND BY MALDIGESTION.

A DYSFUNCTION OF EPITHELIALIZED SURFACES IS THE PREDOMINANT PATHOGENIC FEATURE. CF OCCURS IN APPROXIMATELY 1/3500 WHITE LIVE BIRTHS AND 1/17000 BLACK INFANTS IN UNITED STATES AND 1/90000 ASIAN INFANTS. CFTR A GENE THAT REGULATES ION CHANNEL AND REGULATORY FUNCTION THAT ARE PERTURBED VARIALY BY MUTATIONS. MUTATIONS ANY CHANGE IN THE PRIMARY NUCLEOTIDE SEQUENCE OF DNA REGARDLESS OF ITS FUNCTIONAL CONSEQUENCES. F508 THE MOST PREVALENT MUTATION OF CFTR WHICH INVOLVES THE DELETION OF A SINGLE AMINO ACID CLASS 1 MUTATIONS ALTERING THE PRODUCTION OF THE PROTEIN AND RESULTS TO PARTIAL OR ABSENCE OF THE PROTEIN. CLASS 2 MUTATIONS ALTERING THE MATURATION OF THE PROTEIN CAUSING IT TO BE EITHER ABSENT FROM THE PLASMA MEMBRANE OR PRESENT IN A VERY SMALL QUANTITY. CLASS 3 MUTATIONS ALTERING THE REGULATION OF CHLORIDE CHANNEL AND FREQUENTLY SITUATED IN ATP BINDING DOMAIN. CLASS 4 MUTATIONS ALTERING THE CONDUCTION OF CHLORIDE CHANNEL. CLASS 5 MUTATIONS ALTERING THE STABILITY OF MATURE CFTR PROTEIN. CHROMOSOME 7 CFTR GENE CAN BE FOUND IN A PART OF CHROMOSOME 7 NAMED LOCUS q . REPRESENTS 5% OF THE TOTAL GENETIC MATERIAL IN HUMAN CELLS.

MANAGEMENT CHEST PHYSIOTHERAPY NUTRITIONAL SUPPORT PHARMACOLOGIC APPROACH ANTIBIOTICS (PIPIRACILLIN, CEFTAZIDIME) MUCULYTICS ( N-ACETYLCYSTEINE) BRONCHDILATORS/CORTICOSTEROIDS DIAGNOSIS CHEST X-RAY BRONCHIAL THICKENNING, RING SHADOWS, NODULAR DENSITIES. SPUTUM CULTURE PRESENCE OF P. AEROGINOSA AND S. AUREUS

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