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NATIONAL FOCUS: CYSTIC FIBROSIS IN THE CZECH REPUBLIC
The first patient with CF was diagnosed at the Clinic of Paediatrics
in Prague in May 1946 and by 1960 26 infants had been ascertained based
on examinations, both clinical or during post mortem. A complex database contains of all patients treated since 1985. We have data of 384 living CF patients: 158 died after 1985, and 12 were lost from evidence. Twenty-eight and a half percent of these patients are older than 18 years. Two hundred and sixty-three CF patients are treated in the CF Centre Prague Motol. There are 4 other smaller centres in our country, localised at University hospitals Hradec Králové, Plzen, Brno and Olomouc. A small number of patients are treated in other great hospitals. The mean patient to doctor ratio in our Prague Centre is 65.75 to one CF specialist. This paper deals with the experience of the Prague CF Centre only. "The team of CF specialists was created after 1990." The team of CF specialists was created after 1990. There are 3 paediatricians specialised in CF, one adult pneumologist, experts in molecular genetics, 3 physiotherapists, one anthropologist, one nutritionist, one psychologist, one social worker and 2 CF nurses. We have a close collaboration with specialists in bronchology, gastroenterology, diabetology, cardiology and others. DIAGNOSIS "The most frequent allele in our CF population is deltaF508…" In 1986, prenatal diagnosis by analysis of microvillar enzymes in amniotic fluid (GGT) was started, in 1988 linked markers (metH and J3.11) were examined and finally in 1990 we introduced direct molecular genetic diagnosis by using the most common CFTR mutations, reaching 96% of all CFTR gene mutations detected in our population in 1999. All living and 84 (72%) deceased patients were genotyped. The most frequent allele in our CF population is deltaF508, present on 67% of CF chromosomes, followed by CTRdel2,3(21kb) in 4.6% and G551D in 6%. Analysis of bacterial infection in the respiratory tract included detection of Haemophilus influenzae, Staphylococcus aureus, Pseudomonas aeruginosa and others. In 1994 special cultures enabled the detection of Burkholderia cepacia. To improve the diagnostics of B.cepacia infection in patients with CF, molecular genetic methods of detecting B.cepacia complex and subclassifying the pathogen into genomovars have been performed in the Prague CF Centre since May 2001. Polymerase chain reaction ( PCR ) assay enables analysis of sputum sample within a single day. By examining the first 78 CF children and young adults, we found following genomovar distribution: 93% of B.cepacia infected patients were colonised with genomovar III-A, 5% were B.cepacia genomovar III-B positive, and one child was B.multivorans (former genomovar II) positive. These preliminary figures indicate almost total subspecies uniformity of B.cepacia complex among Czech CF population.
At the beginning our potential for effective treatment of CF was very
limited. Only after 1990 were we able to improve our treatment schemes
to a European standard (particularly in pancreatic substitution, i.v.
antibiotic treatment and modern chest physiotherapy). Since 1990 nutritional support, modular dietetics, of liquid nutrition applied by sipping techniques, PEG, nasogastric feeding and parenteral nutrition schemes via central venous catheter have been used. "…rhDNase inhalations, started in 1995." In the therapy of respiratory symptoms we used inhalation therapy with mucolytics (N-acetyl-cystein) later followed by Mesna (Mistabron), Ambroxolhydrochlorid (Mucosolvan) since 1965. Amiloride inhalations were introduced in 1993. The most important change in the treatment was represented by rhDNase (Pulmozyme, Roche) inhalations, started in 1995. We started with i.v. antibiotic therapy at the beginning of the 1970's. Since 1985 we have treated all Pseudomonas aeruginosa chronically infected patients 3 - 4 times a year with a combination of aminoglysides and beta lactams or cotrimoxazol or quinolones. In the meantime, between the i.v. courses, patients are treated with Colimycine in aerosol (since 1990) and quinolones or azitromycin when needed. Since 1993, we prefer home i.v. therapy. As to Burkholderia cepacia infected patients, because of resistance of this germ, we treat our patients only on the basis of clinical symptoms or increased inflammatory markers. Patients infected by Staphylococcus aureus are treated mainly by antibiotics in high doses for 2 or 3 weeks. "The first lung transplantation was performed in 1998…"
The first lung transplantation was performed in 1998 in a 22-year-old woman, whose clinical state today is perfect. Six other patients underwent lung transplantation afterwards - 2 of them still remain in very good clinical state. Our biggest problem is Burkholderia cepacia infection, present in 18.9%
of our patients, As to the fertility of our patients, we know that 3 men were fertile and fathered children. In the first of them we do not know his genotype as he deceased at the age of 24 in the year 1973, the 2 others ones CFTR mutation 3849+10kg CtoT / deltaF508. Six women successfully completed their pregnancy. In one of them the delivery was premature, the child's birth weight was 900g and he is now 20 years old in a very good state. Unfortunately his mother died 5 weeks after the delivery. Two other women died respectively, 6 and 12 years after delivery. Life expectancy in 2001 was 29.22 years. Median age at death increased
from 12.2 years for 48 patients who died between 1985-1990 to 19.04 years
in 60 patients who died 1991-1999. GOALS FOR DIAGNOSIS AND TREATMENT OVER THE NEXT 10 YEARS: There is a lot of attention dedicated to Cystic Fibrosis. However, we would like to further enlarge the scope of modern methods of treatment as well as physiotherapy. For a list of the research projects and grants undertaken and ongoing from 1991 - present day please contact: editor@iacfa.org.
Modern physiotherapy techniques of CF patients in the Czech Republic are fully practised since 1990. The elementary basis for their implementation was established during the 16th European Working Group for Cystic Fibrosis Conference held in June 1989 in Prague. The president of ICF(M)A at that time, Mr. Martin Weibel from Switzerland, and physiotherapist Louise Lannefors from Sweden discussed with our CF doctors the urgent need to organise a course for physiotherapists from East European countries in Prague in the early part of 1990. In May 1990 the course was organised. The course took place thanks to generous financial support from ICF(M)A and the lecturers. "…new, modern techniques of airways clearance hygiene." Louise Lannefors, Rita Kieselmann from Germany and Pieter Rijpaard from Netherlands taught 20 physiotherapists from Poland, East Germany, Hungary, Bulgaria, Czechoslovakia (now Czech Republic and Slovak Republic) and physicians from Rumania and Russia new, modern techniques of airways clearance hygiene. Since then we have faced a very difficult task: to completely change our working system and physiotherapy methods for all CF patients, from Postural Drainage with clapping to non-clapping Airway Clearance Techniques. Over the past decade we have worked closely with the Working Group for Respiratory Physiotherapy in the Czech Republic. For the extensive list of physiotherapy achievements that we have accomplished over the past 10 years, please contact: editor@iacfa.org. CURRENT STATE OF PHYSIOTHERAPY FOR PATIENTS Methods of CF patients physiotherapy: Daily practice of CF physiotherapy: Every physiotherapy session consists of: This big and radical change in physiotherapy of CF patients was made possible thanks to huge support from a grant: "New trends of treatment of CF", 1994-1998. Since 1999 physiotherapy is one part of a research project (VZ MSMT 111300003) No.17.3: "New forms of physiotherapy for children with chronic respiratory diseases and for children in intensive unit care." PHYSIOTHERAPY CONCLUSION "…to improve and innovate the care of CF patients…" Goals for the next decade are very clear: to improve and innovate the care of CF patients thanks to co-operation with ECFS, ICF(M)A, IPG/CF as well as in other important societies of CF all over the world. We believe that as soon as the language barrier fall down the adult CF patients will be more active in IACFA and other activities. Diagnosis and Treatment: Physiotherapy: CF Center Prague |