major events and evolution in cystic fibrosis patients author: alexandra martin coordinator: dr....
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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
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.
CF GENETIC ETIOLOGY, PRENATAL COUNSELING AND NEONATAL SCREENING
http://en.wikipedia.org/wiki/File:Autorecessive.svg
http://upload.wikimedia.org/wikipedia/commons/e/e1/Cystic_fibrosis_manifestations.png
OBJECTIVE
•Highlight the most important clinical manifestations of patients diagnosed with CF.
• Follow up of clinical evolution of CF patients.
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.
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.
FAMILY HISTORY OF CF PATIENTS
PATIENTS AVERAGE AGE AT CF DIAGNOSIS
SWEAT TEST
SWEAT TEST RESULTS
CLINICAL FORMS OF CF
MAIN RESPIRATORY SIGNS AND SYMPTOMS
REPEATED PNEUMONIA
MAIN DIGESTIVE SINGS AND SYMPTOMS
PATIENTS AGE AT ONSET OF FIRST SYMPTOMS
AVERAGE DAYS OF HOSPITALIZATION
PATIENTS ADHERENCE TO CF FOLLOW-UP
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.
THANK YOU FOR YOUR ATTENTION!