1. National Cystic Fibrosis Center Timişoara
Clinic II Pediatrics – University of Medicine and
Pharmacy “Victor Babeş” Timişoara
IMPORTANCE OF THE NATIONAL
CYSTIC FIBROSIS NETWORK- THE
EXPERIENCE OF NATIONAL CYSTIC
FIBROSIS CENTRE TIMIŞOARA
2. IMPORTANCE OF THE ISSUE
THE MOST FRECQUENT DISEASE WITH AUTOSOMAL RECESSIVE
TRANSMISSION OF POPULATION WITH CAUCASIAN ORIGIN, WITH CHRONIC
PROGRESSIVE EVOLUTION AND POTTENTIALY LETAL. ONE OF 2000-2500
NEWBORN IS SICK(HAS THE DISEASE)
INCREASE FRECQUENCY OF CARRIERS 1:25
IN THE ABSENCE OF AN EARLY DIAGNOSIS (NEWBORN OR AT LIST IN
INFANCY) AND CORRECT MANAGEMENT, SURVIVAL RATE DON`T
OVERCOME TODDLER AGE.
RESPIRATORY DISEASE IS THE ONE WHO INFLUENCE THE GRAVITY AND
DISEASE`S PROGNOSIS .
3. CURENTLY THE LIFE EXPECTANCY AND THE QUALITY OF LIFE FOR
PATIENT WITH CYSTIC FIBROSIS HAS BEEN SIGNIFICANTLY IMPROVED ,
ON ONE HAND BECAUSE OF ACHIEVEMENT IN DISEASE`S KNOWLEDGE
(AFTER THE DISCOVERY OF THE GENE AND DEFECTIVE PROTEIN
DISEASE– CFTR), ON THE OTHER HAND THROUGH DEVELOPMENT OF A
COMPLEX SYSTEM OF TREATMENT AND CARE.
UNDER AEGIS OF CYSTIC FIBROSIS WORLDWIDE, AND WHO
HEALTH PROGRAMS ARE ELABORATED AND GIVES SUPPORT
MATERIAL FOR IMPLEMENTATION AND LOGISTIC SERVICE FOR
DEVELOPING COUNTRIES.
4. CF IS A COMPLEX AND COSTLY DISEASE , ESPECIALLY IN
ADVANCED EVOLUTION, THEREFORE ANY MESURE
TREVENTING THE DISEASE PROGRESSION SHOULD BE APPLIED
WITHOUT ANY LIMITATION.
IT MUST BE ASSURED ALL ORGANIZATIONAL
INFRASTRUCTURE AND CONDITIONS TO ALLOW AN OPTIMAL
DISEASE MANAGEMENT
TEAM THERAPY, ORGANIZED IN SPECIAL CENTERS , IN
COLLABORATION WITH NATIONAL ORGANIZATIONS
(GOVERNMENTAL AND NON-GOVERNMENTAL) OR
INTERNATIONAL ASSOCIATIONS (ESCF, CFW, SMAC, IPG / CF
ETC), DIFERENTIATED FOR CHILDREN AND ADULTS
5. EXTRAPOLATION – ROMÂNIA IS AN EUROPEAN COUNTRY WITH
PREVALENT CAUCASION POPULATION
COMMON ISSUES WITH OTHER EUROPEAN
COUTRIES
ECONOMIC ISSUES INVOLVED
CYSTIC FIBROSIS
AN IMPORTANT ISSUE OF PUBLIC HEALTH
IS NECESSARY THAT HEALTH MINISTRY TO ACCEPT
THIS REALITY
6. PATIENT
FAMILY, FRIEND,
SCHOOL, JOB
PRIMARY CARE TEAM
REGIONAL CENTER, NATIONAL
ORGANIZATIONS, NON-GOVERNMENT–
ASSOCIATIONS
GROUPS RESEARCH ORGANIZATIONS,
INTERNATIONAL ORGANIZATIONS
THEREFORE IS IMPERATIVE TO ORGANIZE THE CYSTIC
FIBROSIS NETWORK-THE SO-CALLED CF PYRAMID
8. CLINIC II PEDIATRICS TIMIŞOARA: Pioneering for
over 40 years with two major objectives :
- improving disease diagnosis;
- expansion of knowledge at national level
9. YEARS `60: THE BEGININGS
first diagnosed children
first reports on the clinical and biological evolution of
these children
introduction of sweat test by pilocarpinic iontophoresis -
diagnosis methodology at national level, with a device with
innovating design, own patent
10. 1987: FOUNDATION OF THE CYSTIC FIBROSIS CENTRE TIMIŞOARA
Providing the infrastructure of the diagnosis, surveillance and
treatment according to European Guidelines
Achieving over 80 years of neonatal screening
Care team of children with CF includes:
CF Specialist
physioterapist
dietician
psichologist CF nurse
patient
geneticist social worker
Family doctor
11. IN ROMÂNIA – 80`s: pilot study coordinated by CMV Timişoara and
Clinic II Pediatrics:
- “ MUCOTEST” : own design, similar to tests overseas, but
much cheaper -
- 4 counties in western country ; over 10 000 newborn tested
- frequency 1: 2054 newborns
At an average of 210 000 births per
year should be an incidence of
approximately 100 new cases of CF /
year
2002 - Pilot study with IRT was
initiated - abandoned due to cost
and reduced infrastructure
12. Discrepancy between the epidemiology and practical books
Causes:
insufficient knowledge of the disease in general and in
particular of the specific symptoms in new born: meconium ileus , bile-
plugg syndrome , right upper lung lobe atelectasis etc..; unfortunately,
in Romania, many children with CF die of other diagnoses
low compliance of decisional organization
impossibility of extending screening by the IRT dosage
nationally because of high costs of reagents;
13. Knowledge of the disease`s warning signs can successfully
replace screening, thereby the patient to be referred immediately to a
specialized center for sweat test is the optimum.
Sino-pulmonary symptoms Gastrointestinal symptoms Others
-chronic cough -meconium ileus -family history of CF
-neonatal cholestasis -deceased brothers as
-recurrent respiratory -chronic diarrhea newborn
disease -steatorrhea -salty taste of sweat
-recurrent atelectasis -recurrent pancreatitis -salt crystals on the skin
- bronchiectasis -heat shock
-respiratory chronic -hipoprotrombinemia
infections -weight stationary or very
-nasal poliposis slow growth
–recurrent pasinusitis
14. 2. POSTNATAL DIAGNOSIS:
For Romania, a country with low economic potential, is currently
the only feasible alternative for improving the situation of the
disease, involving :
disease knowledge;
early diagnosis;
application of correct management.
organizational framework and specific infrastructure
NATIONAL HEALT PROGRAMME SPECIALISED SERVICIES
to allow
consistency at national level of various activities
of primary and secondary prevention;
knowledge at any time of the epidemiological situation
reduce financial hospitals pressures .
15. 1990:
APRIL:
FOUNDATION OF ROMANIAN CYSTIC
FIBROSIS ASSOCIATION(ARM) based in
Timişoara and association's periodic
publishing – “Buletin ARM”
↓
NGO: promotes the interests of patients
with CF and their families
16. 1996: INTERNATIONAL PHISIOTHERAPY COURSE ON CYSTIC FIBROSIS FOR
EAST EUROPEAN COUNTRIES (Timişoara 23-28 September) under CFW aegis :
- attendees from 5 europeane countries;
- lecturer from UK and Sweden;
- course with the largest scale to date
17. 1997: Ministry of Health attribute country coordinator on this issue for
Cystic Fibrosis Center Timişoara :
- nationally better record of the case ;
- possibility of drawing up the National Registry of CF patients
- By this time - evidence for only 240 patients, of which 25
adults that is well below the real frequency
18. 2001: CF in children has been introduced for the first time in a
national health program, CF Centre being a coordinating technical
institution
Technical rules are developed for implementing the National Health
Program. From the program several medical centers were equipped with
electronically sweat tests devices, with automatic reading. Delegate
doctors on cystic fibrosis issue are appointed in universitary centers.
19. 2003:
FIRST NATIONAL CYSTIC FIBROSIS CONGRESS WITH
INTERNATIONAL PARTICIPATION – Timişoara 7-9 mai
20. 2004
Translated by MV for patients and their families "The manual for
Cystic Fibrosis Patients and their Parents" by WHO and ICF (M) A, under
the European Initiative undertaken by the Action for Cystic Fibrosis .
Foundation of National Working Group for Cystic Fibrosis
21. 2005:
Organization of basis national network
In National CF Centre Timişoara, in collaboration with the
Department of Molecular Biology of the Biochemistry Department - UMF
Timisoara is performed the genetic methodology for prenatal and postnatal
genetic diagnosis
22. 2006:
MS Order No 247 / 16 03 2006 declares CF Center Timişoara as
National Center and approve the organization of Regional Centers of
Cystic Fibrosis
23. RESULTS
In recent years has increased interest and expansion of
concerns regarding cystic fibrosis on a national scale :
-diagnosis is completed earlier and genetic diagnosis is
also performed;
- standards of care have been improved
- Improved quality of life of CF patients and
increased the life expectancy (50 adults showing)
24. The survival rate, depending on diagnosis time ( trend
lines)
18
16
14
12
10
8
6
4
2
0
diag 5 years 10 years
0-1 an 1-3 ani 3-5 ani 5-8 ani peste 8 ani
25. REDUCTION OF MINIMAL DRUGS CONSUMPTION/YEAR
- patient with good clinical condition, no admission necessary :
55 000 – 60 000 lei / an (including Pulmozyme treatment)
- patients with frequent admissions (one /quarter):
plus 25 000 – 30 000 lei (without medication)
26. QUALITY OF LIFE
Report episodes of admission for respiratory exacerbation :
- diagnosed late: 4-8 admissions/ year
- diagnosed on time: 2-3 admissions / year, usually for
clinical , biological and pulmonary function assessment
Bronchiectasis occurrence:
- among patients diagnosed over 10 ani is a rule
Pulmonary function evaluation (FEV):
- in patients diagnosed in time: decrease in steps with
long
periods of secure respiratory parameters;
- those diagnosed in advanced stages of disease
( FEV< 60%), the disease evolution is fast and progressive
descendent , especially if they are chronically infected
with Pseudomonas
28. In România there is no organizational framework to enable
taking care of these patients
Abroad, in addition to specialized medical centers for the CF adult ,
there are national associations of adults with cystic fibrosis
Since 2003 in România also there is an adult's association - AAFC -
based in Focsani.
However, as a positive sign, a part of the medication, it is currently
free for adults also
29. Levels of care are the same for adults as for children with CF: local,
regional and national center
Team care for adults with CF will be completed with
gastroenterologist, pulmologist, surgeon, gynecologist, endocrinologist
(Diabetolog) etc
30. ADULTS WITH CF HAVE MANY DIFFICULTIES REGARDING:
•THE DECISION TO INDEPENDENT LIVE
• CAREER CHOICE AND JOB SELECTION IN THE SITUATION
OF LIMITS IMPOSED BY THE DISEASE
• FOUNDATION OF A FAMILY
• STERILITY A ND PREGNANCY MATTER
• SOCIAL ADAPTATION
• IMPACT OF DISEASE AGGRAVATION
In the face of these complex problems, interdisciplinary care team
must be a highly professional support because QUALITY OF LIFE
IS AS IMPORTANT AS HIS PROLONGATION
31. PATIENT
FAMILY, FRIENDS,
SCHOOL, JOB
PRIMARY CARE TEAM
REGIONAL CENTERS, NATIONAL
ORGANISATIONS, NON-GOVERNMENTALS
GROUPS RESEARCH ORGANIZATIONS,
INTERNATIONAL ASSOCIATIONS
