major events and evolution in cystic fibrosis patients author: alexandra martin coordinator: dr....
TRANSCRIPT
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MAJOR EVENTS AND EVOLUTION IN CYSTIC
FIBROSIS PATIENTS
Author: Alexandra Martin
Coordinator: Dr. Reka Borka Balas
University of Medicine and Pharmacy Târgu- Mureş
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INTRODUCTION• Cystic fibrosis (CF) or mucoviscidosis, is the most
common autosomal recessive disease among caucasians.
• Mutations in a gene on the long arm of chromosome 7, responsible for encoding and regulating clor transmembrane conductance regulator (CFTR).
• Deficiency of CFTR leads to clinical manifestations. • Respiratory tract secretions are dehydrated.• The extremely viscous mucus causes airway
obstruction and secondarily infection.• The mutation leads to chronic fat malabsorption and
malnutrition.
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CF GENETIC ETIOLOGY, PRENATAL COUNSELING AND NEONATAL SCREENING
http://en.wikipedia.org/wiki/File:Autorecessive.svg
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http://upload.wikimedia.org/wikipedia/commons/e/e1/Cystic_fibrosis_manifestations.png
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OBJECTIVE
•Highlight the most important clinical manifestations of patients diagnosed with CF.
• Follow up of clinical evolution of CF patients.
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MATERIAL AND METHOD
• Retrospective study between 2003 - 2013 on 22 cases diagnosed with CF in Pediatric Clinic 1 Târgu- Mureş.
• The data were analyzed with chi-square test.
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MATERIAL AND METHOD FOLLOWED PARAMETERS
• Personal and family history.
• Clinical assessment: signs and symptoms.
• Laboratory evaluation.
• Interval between the occurrence of clinical manifestations and diagnosis.
• Number of hospitalization days.
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FAMILY HISTORY OF CF PATIENTS
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PATIENTS AVERAGE AGE AT CF DIAGNOSIS
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SWEAT TEST
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SWEAT TEST RESULTS
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CLINICAL FORMS OF CF
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MAIN RESPIRATORY SIGNS AND SYMPTOMS
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REPEATED PNEUMONIA
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MAIN DIGESTIVE SINGS AND SYMPTOMS
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PATIENTS AGE AT ONSET OF FIRST SYMPTOMS
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AVERAGE DAYS OF HOSPITALIZATION
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PATIENTS ADHERENCE TO CF FOLLOW-UP
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CONCLUSIONS• Prenatal counseling is essential for carrier couples of CFTR
mutation, or parents with children diagnosed with CF.
• Neonatal screening for CF should be a part of the early diagnosis of the disease, in order to establish a treatment to prevent the complications.
• Identifying the evocative signs and symptoms of the disease, ensures a proper and early diagnosis.
• The quality of life in patients with CF has improved significantly due to early diagnosis and treatment.
• Frequent and prolonged hospitalizations, the cost of chronic treatment.
• Patients low adherence to regular monitoring and to the reevaluation of general condition.
• Complications and lack of etiologic therapy, causes still low life expectancy of these patients.
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THANK YOU FOR YOUR ATTENTION!