%0 Report %D 2018 %T Annual report Belgian Cystic Fibrosis Registry 2016 %A Simeon Wanyama %A Muriel Thomas %K Belgian cystic fibrosis registry %K Belgium %K Cystic Fibrosis %X

This report presents the data collected in 2016. It is our hope that the analysis of the registry data will provide readers with information on various aspects of CF and continue to provide an important tool for monitoring the patient’s quality of care and trends. In this edition, a brief analysis of anthropometry, spirometry, common complications and therapy in transplant patients has been added.

Since its establishment in 1998, the Belgium CF Registry (BCFR) has grown steadily and had 1275 patients registered in 2016. This number excludes five patients whose diagnosis for CF was revoked and fifteen without a confirmed diagnosis. There were 23 newly diagnosed patients in 2016, among them three adults, with a median age at diagnosis of 3.8 months with a range from birth to 52.3 years. All the newly diagnosed patients were genotyped; while 22 had sweat chloride values > 60 mmol/L.

Among the patients in follow-up in 2016, 52.0% were male and 61.2% adults with a median age of 22.5 years. This can be compared to the start of the registry 17 years ago when 39.0% were adults with a median age of 14.9 years. 46.7% of the patients are homozygous for the F508del mutation while 37.0% are F508del heterozygous. The main reasons for diagnosis of CF are acute or recurrent respiratory problems (42.1%) and failure to thrive (24.4%). About 18.0% were diagnosed via neonatal screening even though Belgium has no national neonatal screening program so far. Within the year, eight deaths were reported (four of them in transplanted patients) with age at death ranging from 20.5 to 44.8 years while 17 patients benefitted from a lung transplant. About 14.0% of the patients in the registry are living with a transplant.

Among the adults, the proportion of patients with BMI < 18.0 kg/m² continues to decline from about 36.3% in 1998 to 17.4% in 2010 and 11.7% in 2016; this decline was noted also amongst the F508del homozygous patients. Amongst the patients up to 20 years, the proportion with BMI below the tenth percentile has also been declining over the years. The above suggests better nutritional management in the patients. The patient population continues to record an improvement in lung function expressed as the mean percentage of predicted FEV1. Among the F508del homozygous patients, 38.0% of the children and 5.1% of the adults had FEV1 ≥ 90.0% of predicted in 1998 compared to 52.9% and 7.0% in 2010 and 53.7% and 13.6% respectively among the children and adults in 2016.

The overall annual prevalence of Pseudomonas aeruginosa reported in 2016 was 37.5% and has been declining compared to a prevalence of 42.4% in 2012. This prevalence has been below 40.0% since 2015. The prevalence of the Burkholderia cepacia complex on the other hand had remained stable over the years since 2014 at about 3.5% There has also been a steady 14 Summ ar y increase in the prevalence of Achromobacter xylosoxidans from 5.9% in 2009 stabilizing at prevalence levels above 10.0% since 2012.

Thanks to improved disease management practises and novel treatments, the life expectancy and the quality of life of patients with CF has improved significantly when compared to CF cohorts a decade or two ago. The proportion of adult CF patients aged 18 years and above increases each year. But this progress is also accompanied by different challenges, expectations and disease related complications. In 2016, CF related diabetes had a prevalence of 24.5% and 53.1% in non- transplanted and transplanted adults respectively. Other complications reported include early osteoporosis and CF related arthritis/arthropathy. These require specialized care for the adult CF patient.

%P 100 %8 03/2018 %G eng %0 Conference Proceedings %D 2018 %T The Belgian Cystic Fibrosis Registry - Facts and highlights 2016 %A Simeon Wanyama %A Muriel Thomas %K Cystic Fibrosis %K highlights %P 8 %8 2018 %0 Conference Proceedings %D 2018 %T Belgisch mucoviscidose register - Feiten en cijfers 2016 %A Simeon Wanyama %A Muriel Thomas %P 8 %8 2018 %0 Journal Article %J J Cyst Fibros %D 2018 %T The effect of enteral tube feeding in cystic fibrosis: A registry based study. %A Denis Libeert %A Dimitri Declercq %A Simeon Wanyama %A Muriel Thomas %A Sabine Van Daele %A Frans De Baets %A Stephanie Van Biervliet %K Cystic Fibrosis %K Gastrostomy %K Malnutrition %K Pulmonary function %K Tube feeding %X

BACKGROUND: Long-term effect of enteral tube feeding (ETF) in cystic fibrosis (CF) remains equivocal.

METHODS: A Belgian CF registry based, retrospective, longitudinal study, evaluated the pre- and post- ETF (n = 113) clinical evolution and compared each patient with 2 age, gender, pancreatic status and genotype class-matched controls.

RESULTS: At baseline ETF had a worse BMI z-score (p < 0.0001) and FEV1% (p < 0.0001) compared to controls. Patients eventually receiving ETF, had already a significant worse nutritional status and pulmonary function at first entry in the registry. Both parameters displayed a significant decline before ETF-introduction. ETF had more hospitalization and intravenous antibiotic (IVAB) treatment days (p < 0.0001). After ETF introduction hospitalizations and IVAB decreased significantly. After ETF-introduction BMI z-score recuperated towards the original curve before the decline, but remained below the controls. Starting ETF had no effect on rate of height gain in children. The pre-index FEV1 decline (-1.52%/year (p = 0.002)) stabilized to +0.39%/year afterwards. Controls displayed decline of -0.48%/year (p < 0.0001).

CONCLUSION: ETF introduction improved BMI z-score and stabilized FEV1, associated with less hospitalizations and IVAB treatments. Higher mortality and transplantation in the ETF cases, leading to drop-outs, made determination of the effect size difficult.

%B J Cyst Fibros %V 17 %8 2018 Mar %G eng %N 2 %R 10.1016/j.jcf.2018.01.004 %0 Generic %D 2018 %T EPS5.06 Demography and clinical outcomes in cystic fibrosis lung transplant recipients in Belgium %A Muriel Thomas %A Simeon Wanyama %A L Dupont %A I. Etienne %A P. Evrard %A B. Rondelet %A Y. Sokolow %A D. Van Raemdonck %K Belgium %K Cystic Fibrosis %K lung transplant %B Journal of Cystic Fibrosis %V 17 %8 Jan-06-2018 %G eng %R 10.1016/S1569-1993(18)30266-2 %0 Conference Proceedings %D 2018 %T Le registre belge de la mucoviscidose - Faits et chiffres 2016 %A Simeon Wanyama %A Muriel Thomas %P 8 %8 2018 %0 Journal Article %J Pediatr Allergy Immunol %D 2018 %T Risk factors and impact of allergic bronchopulmonary aspergillosis in Pseudomonas aeruginosa-negative CF patients. %A Frans De Baets %A Linde De Keyzer %A Sabine Van Daele %A Petra Schelstraete %A Stephanie Van Biervliet %A Eva Van Braeckel %A Muriel Thomas %A Simeon Wanyama %K allergic bronchopulmonary aspergillosis %K Aspergillus colonization %K Aspergillus fumigatus %K Aspergillus sensitization %K Cystic Fibrosis %X

BACKGROUND: Allergic bronchopulmonary aspergillosis (ABPA) is a major complication in cystic fibrosis (CF) patients. Risk factors for ABPA and clinical deterioration in CF patients, negative for Pseudomonas aeruginosa (Pa), were explored.

METHODS: We performed a retrospective case-control study in 73 Pa-negative patients. Each patient was matched with 2 controls for age, gender, pancreas sufficiency, DeltaF508 mutation (homozygous or heterozygous), and Pa colonization.

RESULTS: Median FEV at the year of diagnosis (index year) was significantly lower in patients with ABPA. The median of cumulative values of FEV and FVC before the index year was not significantly different. After the index year, the median of cumulative data for FEV and FVC was significantly lower; there were significantly more hospitalization days and more IV antibiotic days compared to controls. Comparing pre- and post-index year data in patients with ABPA, significantly more hospitalization days and more IV antibiotic days were observed after the index year. During the period preceding the index year, significantly more ABPA patients were treated with rhDNase and inhaled corticosteroids.

CONCLUSIONS: Bronchial damage cannot be considered as a facilitating factor for ABPA. ABPA causes a significant increase in bronchial damage. In patients with ABPA, further bronchial damage can be controlled by an increase in hospitalization days and use of IV antibiotics. rhDNase and inhaled corticosteroids were associated with the development of ABPA.

%B Pediatr Allergy Immunol %8 2018 Jul 07 %G eng %R 10.1111/pai.12953 %0 Report %D 2017 %T Annual report Belgian Cystic Fibrosis Registry 2014 %A Simeon Wanyama %A Muriel Thomas %A Malfroot, Anne %P 96 %8 05/2017 %G eng %M D/2017/2505/04 %0 Report %D 2017 %T Annual report Belgian Cystic Fibrosis Registry 2015 %A Simeon Wanyama %A Muriel Thomas %A Malfroot, Anne %P 103 %8 12/2017 %G eng %M D/2017/2505/31 %0 Journal Article %J Eur Respir J %D 2017 %T Does newborn screening influence the young cystic fibrosis cohort included in national registries? %A De Boeck, Kris %A Munck, Anne %A de Monestrol, Isabelle %A Gulmans, Vincent %A Lemonnier, Lydie %A Middleton, Peter G %A Simeon Wanyama %A Muriel Thomas %B Eur Respir J %V 49 %8 2017 Jan %G eng %N 1 %1 http://www.ncbi.nlm.nih.gov/pubmed/28077474?dopt=Abstract %R 10.1183/13993003.00686-2016 %0 Journal Article %J Arch Dis Child %D 2017 %T Effect of allergic bronchopulmonary aspergillosis on FEV1 in children and adolescents with cystic fibrosis: a European Cystic Fibrosis Society Patient Registry analysis. %A Kaditis, Athanasios G %A Miligkos, Michael %A Bossi, Anna %A Colombo, Carla %A Hatziagorou, Elpis %A Kashirskaya, Nataliya %A de Monestrol, Isabelle %A Muriel Thomas %A Mei-Zahav, Meir %A Chrousos, George %A Zolin, Anna %K ADOLESCENT %K Age Distribution %K Aspergillosis, Allergic Bronchopulmonary %K Body Mass Index %K Child %K Cystic Fibrosis %K Female %K Forced Expiratory Volume %K Humans %K Longitudinal Studies %K Male %K REGISTRIES %K Sex Distribution %X

OBJECTIVE: To evaluate the effect of allergic bronchopulmonary aspergillosis (ABPA) on FEV1 percent predicted in children and adolescents with cystic fibrosis.

DESIGN: Longitudinal data analysis (2008-2010).

SETTING: Patients participating in the European Cystic Fibrosis Society Patient Registry.

PARTICIPANTS: 3350 patients aged 6-17 years.

MAIN OUTCOME MEASURE: FEV1 percent predicted was the main outcome measure (one measurement per year per child). To describe the effect of ABPA (main explanatory variable) on FEV1 while controlling for other prognostic factors, a linear mixed effects regression model was applied.

RESULTS: In 2008, the mean (±SD) FEV1 percent predicted was 78.6 (±20.6) in patients with ABPA (n=346) and 88 (±19.8) in those without ABPA (n=2806). After considering other variables, FEV1 in subjects with ABPA on entry to the study was 1.47 percentage points lower than FEV1 in patients of similar age without ABPA (p=0.003). There was no FEV1 decline associated with ABPA over the subsequent study years as the interaction of ABPA with age was not significant (p>0.05). For patients aged 11.82 years (population mean age), poor body mass index had the greatest impact on FEV1 in 2008, followed by high-risk genotype (two severe mutations), female gender, diabetes mellitus, chronic Pseudomonas aeruginosa infection and ABPA in descending order of effect size.

CONCLUSIONS: In contrast to the common clinical belief of ABPA having a serious impact on lung function, the difference in FEV1 between young patients with and without the complication was found to be modest when the effect of other prognostic factors was considered.

%B Arch Dis Child %V 102 %P 742-747 %8 2017 Aug %G eng %N 8 %1 http://www.ncbi.nlm.nih.gov/pubmed/28325727?dopt=Abstract %R 10.1136/archdischild-2016-311132 %0 Journal Article %J J Cyst Fibros %D 2017 %T Ethnicity impacts the cystic fibrosis diagnosis: A note of caution. %A Bosch, Barbara %A Bilton, Diana %A Sosnay, Patrick %A Raraigh, Karen S %A Mak, Denise Y F %A Ishiguro, Hiroshi %A Gulmans, Vincent %A Muriel Thomas %A Cuppens, Harry %A Amaral, Margarida %A De Boeck, Kris %X

BACKGROUND: The diagnosis of Cystic Fibrosis (CF) is by consensus based on the same parameters in all patients, yet the influence of ethnicity has only scarcely been studied. We aimed at elucidating the impact of Asian descent on the diagnosis of CF.

METHODS: We performed a retrospective analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the diagnostic characteristics of Asian to non-Asian patients with CF.

RESULTS: Asian patients with CF do not have a worse clinical phenotype. The repeatedly reported lower FEV1 of Asian patients with CF is attributable to the influence of ethnicity on lung function in general. However, pancreatic sufficiency is more common in Asian patients with CF. The diagnosis of CF in people with Asian ancestry is heterogeneous as mean sweat chloride values are lower (92±26 versus 99±22mmol/L in controls) and 14% have sweat chloride values below 60mmol/L (versus 6% in non-Asians). Also, CFTR mutations differ from those in Caucasians: 55% of British Asian patients with CF do not have one mutation included in the routine newborn screening panel.

CONCLUSIONS: Bringing together the largest cohort of patients with CF and Asian ethnicity, we demonstrate that Asian roots impact on all three CF diagnostic pillars. These findings have implications for clinical practice in the increasingly ethnically diverse Western population.

%B J Cyst Fibros %V 16 %P 488-491 %8 2017 Jul %G eng %N 4 %1 http://www.ncbi.nlm.nih.gov/pubmed/28233695?dopt=Abstract %R 10.1016/j.jcf.2017.01.016 %0 Journal Article %J Orphanet J Rare Dis %D 2017 %T What can the CF registry tell us about rare CFTR-mutations? A Belgian study. %A De Wachter, E %A Muriel Thomas %A Simeon Wanyama %A Seneca, S %A Malfroot, A %X

BACKGROUND: CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability is hardly documented.

METHODS: Belgian CF-Registry 2013 data were analyzed to identify CF with at least 1 RM (CF+RM). Clinical data and sweat chloride of CF+RM were compared to CF-controls, carrying 2 class 1 to 3 mutations (CFclassic). Disease severity was compared between both groups. To avoid bias in the comparison, transplanted patients were excluded from each group.

RESULTS: Seventy-seven CF+RM were identified (77/1183 = 6.5%). Sixty-four different RM were detected, of which 21 had not been previously reported. All RMs, corresponding to HGVS (Human Genome Variation Society) nomenclature, were listed in supplementary data. Seven transplanted CF+RM were excluded for further analysis. CF+RM had higher age at diagnosis [median (IQR)] [3.7 y (0.3-18.3) vs. 0.3y (0.1-2,0) (p < 0.0001)], lower sweat chloride [96 mmol/L (64-107) vs. 104 mmol/L (97-115) (p < 0.0001)], higher FEV1%pred [77%pred (58-96) vs. 68%pred (48-86) (p = 0.017)], were less frequently pancreatic insufficient [56% vs. 98% (p < 0.0001)], Pseudomonas aeruginosa colonized [24% vs. 44% (p = 0.0093)] and needed fewer IV antibiotics [36% vs. 51% (p = 0.041)] than CFclassic. However, a wide spectrum of disease severity was seen amongst CF+RM.

CONCLUSIONS: CF-patients with a RM cover 6.5% of the Belgian CF-population. Rare mutations can be found in severely ill patients, but more often in late diagnosed, pancreatic sufficient patients.

%B Orphanet J Rare Dis %V 12 %P 142 %8 2017 Aug 22 %G eng %N 1 %1 http://www.ncbi.nlm.nih.gov/pubmed/28830496?dopt=Abstract %R 10.1186/s13023-017-0694-1 %0 Report %D 2015 %T Annual Report Belgian Cystic Fibrosis Registry 2013. %A Simeon Wanyama %A Muriel Thomas %A Malfroot,A. %K annual report %K Belgian %K Belgium %K Cystic Fibrosis %K data %K Fibrosis %K REGISTRIES %K Registry %K report %I WIV-ISP %C Brussels/Belgium %P 84 %8 30/5/2015 %@ D/2015/2505/30 %G eng %1

1368

%& 1 %0 Report %D 2015 %T Jaarlijks Rapport Belgisch Mucoviscidose Register 2013. %A Simeon Wanyama %A Muriel Thomas %A Malfroot,A. %K Belgium %K Cystic Fibrosis %K data %K de %K Fibrosis %K mucoviscidose %K rapport %K Register %K REGISTRIES %K Registry %K report %X

In dit rapport worden de gegevens voorgesteld, verzameld in 2013. We hopen dat dit rapport de lezers zal verder toelichten over de aspecten van mucoviscidose in het algemeen en over de zorg die ter beschikking staat voor de personen met mucoviscidose in België in het bijzonder.

Sinds zijn oprichting is het aantal patiënten in het Belgisch Mucoviscidose Register gestaag gegroeid en in 2013 waren er 1186 patiënten in het BMRRBM geregistreerd. Dit aantal sluit 7 personen uit bij wie de diagnose van mucoviscidose werd weerlegd in 2013 en 7 bij wie de diagnose niet bevestigd was. Er waren 28 nieuw gediagnosticeerde patiënten in 2013, waaronder 2 volwassenen; de mediane leeftijd op het ogenblik van de diagnose voor de nieuw gediagnosticeerde patiënten was 8.2 maanden, met een spreiding van 0.0 – 25.7 jaar. De meeste van de nieuwe patiënten kregen ook een genetisch onderzoek met opsporing van de mutaties.

Onder de patiënten geregistreerd en gevolgd in 2013 behoorden 52.0% tot het mannelijk geslacht en waren 57.0% volwassenen, mediane leeftijd van alle patiënten was 20.7 jaar. Bij de start van het register 15 jaar geleden, waren slechts 39.0% volwassenen en was de mediane leeftijd 14.9 jaar. In 2013, waren 45.4% van de patiënten homozygoot voor de F508del mutatie, terwijl 40.4% heterozygoot waren voor F508del. De belangrijkste aanleidingen voor de diagnose van mucoviscidose bleven acute of recidiverende respiratoire problemen (43.6%) en slechte gewichts- en groeicurven (24.9%). In ongeveer 17.0% werd de diagnose gesteld door neonatale screening zelfs zonder aanwezigheid van een nationaal neonataal screening programma in België. Tijdens het jaar 2013 waren er 5 overlijdens (waarvan 2 bij getransplanteerde patiënten), leeftijd van overlijden varieerde van 17.1 – 30.1 jaar; 5 patiënten ondergingen een longtransplantatie.

Bij de volwassenen, bleef het aandeel patiënten met een BMI < 18.0 kg/m² verder dalen van ongeveer 36.3% in 1998 tot 17.4% in 2010 en 14.3% in 2013; deze daling werd zelfs vastgesteld bij de F508del homozygote patiënten. Ook bij de patiënten onder de leeftijd van 20 jaar, was het aandeel met een BMI onder percentiel 10 blijven dalen over de jaren heen. Deze cijfers illustreren een betere nutritionele aanpak van de patiënten. De patiëntenpopulatie bleef ook een continue verbetering vertonen van de longfunctie parameters, uitgedrukt in het gemiddelde percentage van de voorspelde éénseconde waarde (ESW). Onder de F508del homozygote patiënten, hadden in 1998, 38.0% van de kinderen en 5.1% van de volwassenen, in 2010 respectievelijk 52.9% en 7.0% en in 2013 respectievelijk zelfs 57.4% en 8.7% een ESW ≥ 90.0% van de voorspelde waarde.

De jaarlijkse prevalentie van Pseudomonas aeruginosa gerapporteerd in 2013 was 42.2% en was stabiel vergeleken met de prevalentie van 41.8% gerapporteerd in 2012. De prevalentie van Burkholderia cepacia complex bleef lager dan 3.0% gedurende jaren tot in 2010. In 2011 echter was de prevalentie gestegen tot 3.6%, (statistisch niet significant), en in 2012 en 2013 werd verder een stijgende trend van respectievelijk 4.0% en 4.5% vastgesteld; deze beide cijfers waren wel statistisch significant ten opzichte van de prevalentie van 2.4% in 2010. Er was tevens een toename in de prevalentie van Achromobacter xylosoxidans, een opkomende ziektekiem, van 5.9% in 2009 tot 10.5% in 2013.

Dankzij verbetering van de behandeling zijn de levensverwachting en de levenskwaliteit van de patiënten met mucoviscidose gestegen. Het aandeel patiënten met CF ouder dan 18 jaar neemt elk jaar toe. Maar deze vooruitgang gaat ook gepaard met een toename van complicaties bij volwassenen. CF gerelateerde diabetes had in 2013 een prevalentie van 26.6% bij niet getransplanteerde volwassenen. Andere complicaties waren vroege osteoporose, CF- gerelateerde artritis/artropathie ... Deze evolutie vereist een specifieke zorg voor volwassene patiënten.

%I WIV-ISP %C Brussels/Belgium %P 84 %8 30/5/2015 %@ D/2015/2505/32 %G eng %1

1370

%& 1 %0 Report %D 2015 %T Rapport Annuel Registre Belge de la Mucoviscidose 2013. %A Simeon Wanyama %A Muriel Thomas %A Malfroot,A. %K Belge %K Belgium %K Cystic Fibrosis %K data %K de %K Fibrosis %K mucoviscidose %K rapport %K rapport annuel %K registre %K REGISTRIES %K Registry %K report %I WIV-ISP %C Brussels/Belgium %P 84 %8 30/5/2015 %@ D/2015/2505/31 %G eng %1

1369

%& 1 %0 Journal Article %J Pediatr Pulmonol %D 2015 %T Treatment burden in patients with at least one class IV or V CFTR mutation %A Dewulf, Jonas %A Vermeulen, François %A Simeon Wanyama %A Muriel Thomas %A Proesmans, Marijke %A Dupont, Lieven %A De Boeck, Kris %K ADOLESCENT %K Ambulatory Care Facilities %K Anti-Bacterial Agents %K Child %K Child, Preschool %K Cohort Studies %K Cystic Fibrosis %K Cystic Fibrosis Transmembrane Conductance Regulator %K Drug Utilization %K Female %K Genotype %K Hospitalization %K Humans %K Infant %K Infant, Newborn %K Male %K Mutation %K Organ Transplantation %K REGISTRIES %K Respiratory Therapy %K Retrospective Studies %K Severity of Illness Index %K Young adult %X

CFTR mutations are grouped according to disease-causing mechanism. Several studies demonstrated that patients having at least one mutation of class IV/V, present with a milder phenotype, but little is known about their relative treatment burden. We compared treatment burden between patients with two class I, II, or III mutations and patients with at least one mutation of class IV/V in the 2010 database of the Belgian CF Registry. We calculated a "Treatment Burden Index" (TBI) by assigning long term therapies to categories low, medium and high intensity, for differential weighing in the total score. There were 779 patients with two known class I/II/III mutations and 94 patients with at least one class IV/V mutation. Compared to class I/II/III, class IV/V patients had a lower median number of clinic visits (4 vs. 5; P < 0.001), a lower risk of hospitalization (24.7% vs. 50.8%; P < 0.001) and intravenous antibiotic treatment (23.5% vs. 46.0%; P < 0.001) and a lower median TBI (6 vs. 9; P < 0.001). These differences remained significant when only class IV/V patients with pancreatic insufficiency (n = 31) were considered. This study clearly demonstrates the significantly lower treatment burden in patients with CF and at least one class IV/V mutation compared to patients with two class I/II/III mutations and contributes to providing better individual counseling at time of diagnosis.

%B Pediatr Pulmonol %V 50 %P 1230-6 %8 2015 Dec %G eng %N 12 %1 http://www.ncbi.nlm.nih.gov/pubmed/26540286?dopt=Abstract %R 10.1002/ppul.23313 %0 Report %D 2014 %T Annual report Belgian Cystic Fibrosis Registry 2012 %A Simeon Wanyama %A Muriel Thomas %P 76 %8 10/2014 %G eng %M D/2014/2505/57 %0 Report %D 2014 %T The Belgian Cystic Fibrosis Registry Summary Report 2011 %A Muriel Thomas %A Simeon Wanyama %A François Vermeulen %P 44 %8 2014 %G eng %M D/2014/2505/02 %0 Report %D 2014 %T Het Belgisch Mucoviscidose Register Beknopt Verslag 2011 %A Muriel Thomas %A Simeon Wanyama %A François Vermeulen %P 44 %8 2014 %G eng %M D/2014/2505/34 %0 Report %D 2014 %T Registre Belge de la Mucoviscidose Synthèse du Rapport 2011 %A Muriel Thomas %A Simeon Wanyama %A François Vermeulen %P 44 %8 2014 %G eng %M D/2014/2505/33 %0 Journal Article %J J Cyst Fibros %D 2014 %T Is there evidence for correct diagnosis in cystic fibrosis registries? %A Muriel Thomas %A Lemonnier, Lydie %A Gulmans, Vincent %A Naehrlich, Lutz %A Vermeulen, François %A Cuppens, Harry %A Castellani, Carlo %A Norek, Aleksandra %A De Boeck, Kris %K ADOLESCENT %K Adult %K Aged %K Benchmarking %K Child %K Cystic Fibrosis %K Cystic Fibrosis Transmembrane Conductance Regulator %K Diagnostic Errors %K Europe %K Female %K Humans %K Male %K middle aged %K REGISTRIES %K Young adult %X

BACKGROUND: Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts.

OBJECTIVE AND METHODS: Explore patient characteristics in Belgian (B), French (F), German (G) and Dutch (NL) registries (total N=13,122) and determine whether they fulfill predefined diagnostic criteria.

RESULTS: Using as case definition sweat chloride >60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, NL, and G registries. Restricting CFTR mutation interpretation to 124 CF causing mutations in CFTR2, these numbers rose to 10.5, 10.4, 14.5 and 24.3% respectively. Excluding these subjects impacted on outcomes. The impact differed between countries; the largest changes seen were a decrease in % adults from 51.9 to 47.8% in G, a decrease in % pancreas sufficiency from 17.0 to 13.0 in F, an increase in % homozygous for F508del from 55.3 to 63.7 in NL and a decrease of % with sweat chloride ≤60mmol/L from 8.4 to 1.1 in B.

CONCLUSION: CF diagnosis is not documented in 10 to 24% of patients included in CF registries. Excluding these patients for analyses leads to significant changes in outcomes.

%B J Cyst Fibros %V 13 %P 275-80 %8 2014 May %G eng %N 3 %1 http://www.ncbi.nlm.nih.gov/pubmed/24274930?dopt=Abstract %& 275 %R 10.1016/j.jcf.2013.10.010 %0 Report %D 2013 %T Annual data report 2011 Cystic Fibrosis, Belgium. %A Simeon Wanyama %A Muriel Thomas %K Belgium %K Cystic Fibrosis %K data %K Fibrosis %K report %I WIV-ISP %C Brussels %P ? %8 0/0/2013 %@ D/2013/2505/43 %G eng %1 1360 %0 Report %D 2012 %T The Belgian Cystic Fibrosis Registry Summary Report 2009 %A Muriel Thomas %A Simeon Wanyama %A Herwig Jansens %A François Vermeulen %P 44 %8 2012 %G eng %M D/2012/2505/22 %0 Report %D 2012 %T The Belgian Cystic Fibrosis Registry Summary Report 2010 %A Muriel Thomas %A Simeon Wanyama %A François Vermeulen %P 40 %8 2012 %G eng %M D/2012/2505/45 %0 Report %D 2012 %T The Belgian cystic fibrosis registry: summary report 2010 %A Muriel Thomas %A Simeon Wanyama %A Vermeulen,F. %E Johan Peeters %K 2010 %K Belgian %K Cystic Fibrosis %K Fibrosis %K REGISTRIES %K Registry %K report %K summary %X Not available %I WIV-ISP %C Brussels %P 40 %8 0/0/2012 %@ D/2012/2505/45 %G eng %1 1326 %& 1 %0 Report %D 2012 %T Het Belgisch Mucoviscidose Register Beknopt Verslag 2010 %A Muriel Thomas %A Simeon Wanyama %A François Vermeulen %P 10 %8 2012 %G eng %M D/2012/2505/68 %0 Generic %D 2012 %T Increased proportion of CF patients with normal FEV1 over an 11-years nation-wide study ? Have characteristics changed ? %A De Wachter,E. %A De Schutter,I. %A Muriel Thomas %A Simeon Wanyama %A Haentjes,P. %A Malfroot,A. %K an %K conference %K Cystic Fibrosis %K European %K Fibrosis %K Patient %K patients %K study %X

Not available

%B European Cystic Fibrosis Conference %I NA %C NA %8 0/0/2012 %G eng %N ECFS %1 1328 %2 June 2012 %0 Generic %D 2012 %T Problématique du dépistage systématique de la mucoviscidose. Données du registre Belge de la Mucoviscidose. %A Muriel Thomas %A Simeon Wanyama %A Jansen,H. %A Viviane Van Casteren %K Belge %K de %K mucoviscidose %X

Not available

%B Séminaire de concertation "problématique du dépistage néonatal systématique de la mucoviscidose" %I NA %C NA %8 0/3/2012 %G eng %N Fédération Wallonie-Bruxelles %1 35609 %2 Mars 2012 %0 Report %D 2012 %T Registre Belge de la Mucoviscidose Synthèse du Rapport 2010 %A Muriel Thomas %A Simeon Wanyama %A François Vermeulen %P 40 %8 2012 %G eng %M Rapport D/2012/2505/56 %0 Generic %D 2012 %T Who is reported in the Belgian, Dutch and French CF registries. %A Muriel Thomas %A Castellani,C. %A Cuppens,H. %A Gulmans,V. %A L. Lemmonier %A Norek,A. %A Vermeulen,F. %A De Boeck,K %K Belgian %K conference %K Cystic Fibrosis %K European %K Fibrosis %K IS %K REGISTRIES %K Registry %K WHO %X

Not available

%B 35th European Cystic Fibrosis Conference %I NA %C NA %8 0/6/2012 %G eng %N European Cystic Fibrosis %1 35610 %2 Juin 2012 %0 Report %D 2011 %T The Belgian Cystic Fibrosis Registry Summary Report 2008 %A Muriel Thomas %A Simeon Wanyama %A Herwig Jansens %A François Vermeulen %P 44 %8 2011 %G eng %M D/2011/2505/28 %0 Journal Article %J Eur Respir J %D 2011 %T Inhaled corticosteroids and lower lung function decline in young children with cystic fibrosis. %A K De Boeck %A F Vermeulen %A Simeon Wanyama %A Muriel Thomas %K Administration, Inhalation %K ADOLESCENT %K Adrenal Cortex Hormones %K Belgium %K Child %K Cystic Fibrosis %K Female %K Humans %K Lung %K Male %K Respiratory Function Tests %K Treatment Outcome %K Young adult %X

A recent American registry analysis in cystic fibrosis (CF) children showed less lung function decline after starting inhaled corticosteroid (ICS) use. We therefore examined the influence of ICS treatment on lung function in Belgian CF patients. Data from patients ≥ 6 yrs of age were eligible, provided entries on lung function, height and ICS use were available in two consecutive years. Data after oral steroid use or transplant were excluded. 852 subjects contributed data with 2,976 data pairs analysed, 44.9% concerning years of ICS use. Yearly % predicted decline in forced expiratory volume in 1 s (FEV₁) was 1.07% lower during ICS use (p = 0.001). Subgroup analysis for age revealed that the lower FEV₁ decline rate during ICS use was only statistically significant in children 6-12 yrs of age (2.56%; p = 0.0003). Baseline FEV(1) was lower by 5.89% (p < 0.0001) in ICS users for all age groups combined, but there was no difference in baseline lung function in the children 6-12 yrs of age. In 6-12-yr-old children with CF, baseline lung function was similar in ICS users and nonusers, but annualised FEV₁ decline was 2.56% pred lower in ICS users. Our data therefore support recent American findings.

%B Eur Respir J %V 37 %8 2011 May %G eng %N 5 %R 10.1183/09031936.00077210