Demographics of glucose metabolism in cystic fibrosis

We investigated the prevalence of cystic fibrosis-related diabetes (CFRD) and its association with various demographic and clinical conditions in a Dutch child and adult cystic fibrosis (CF) population.Patients were classified as having either normal glucose tolerance (NGT), impaired glucose tolerance (IGT) or CFRD. Associations with the following parameters were studied: age, gender, BMI, mutations, pulmonary function, infection status, and hospitalization.In our patient population the prevalence of IGT and CFRD was 16% and 31% respectively. After excluding pancreatic sufficient patients, the prevalence of CFRD was 40% and in patients over 40 years 52%. Compared with patients with NGT, CFRD patients were older, had more in-hospital days and had worse pulmonary function. Women developed CFRD at a significantly younger age than men.CFRD is a frequently occurring co-morbidity in patients with CF. The prevalence of CFRD is increasing in ageing CF populations and deserves rising attention in CF management.     

Long-term intestinal obstruction sequelae and growth in children with cystic fibrosis operated for meconium ileus: expectancies and surprises

Background/purpose

In the few studies on intestinal complications and growth of cystic fibrosis (CF) patients with a history of meconium ileus (MI), operated MI has not been investigated separately. We aimed to investigate the incidence of long-term intestinal obstruction sequelae [constipation, distal intestinal obstruction syndrome (DIOS)] and growth in CF patients operated for MI.

The syndrome of inappropriate anti-diuretic hormone secretion concurrent with an acute exacerbation of cystic fibrosis

Acute exacerbations of cystic fibrosis (CF) can be associated with dehydration, hyponatraemia and hypochloraemia. The syndrome of inappropriate anti-diuretic hormone secretion (SIADH) has also been described in CF patients in the setting of hyponatraemia, but may be under-recognised. Diagnosing SIADH has therapeutic implications as it necessitates fluid and water restriction rather than fluid resuscitation. We report the case of an acute pulmonary exacerbation of CF in which features of SIADH are demonstrated.     

Acute intestinal obstruction as a presentation of cystic fibrosis in infancy

Intestinal obstruction and dysmotility occur throughout life in cystic fibrosis but rarely present as an acute obstruction beyond the neonatal period. We describe the previously unreported occurrence of acute obstruction of the sigmoid colon as a presenting feature of cystic fibrosis (CF) in a 6-month infant.     

Combined lung-liver-pancreas transplantation in a recipient with cystic fibrosis

Cystic fibrosis (CF) affects multiple organs including the lung, liver, and pancreas. Lung transplant, liver transplant, and combined lung-liver transplant have become well-established therapies for CF patients with end-stage organ failure. Thus far, however, there has been limited experience with pancreas transplantation in CF. In this report, we detail the clinical history, transplant procedure, and post-operative recovery of a patient who underwent combined lung-liver-pancreas transplant for advanced CF.     

Association between glucose intolerance and bacterial colonisation in an adult population with cystic fibrosis,emergence of Stenotrophomonas maltophilia

Background

Diabetes is common in cystic fibrosis (CF). Glucose can be detected in the airway when the blood glucose is elevated, which favours bacterial growth. We investigated the relationship between dysglycemia and lung pathogens in CF.

Gastrointestinal surgery in cystic fibrosis: A 20-year review

Objectives

The purpose of this study was to evaluate outcomes of the surgical management for meconium ileus (MI) and Distal Intestinal Obstruction Syndrome (DIOS) in Cystic Fibrosis (CF).

Methods

Children born between 1990 and 2010 were identified using a regional CF database. Retrospective case note analysis was performed. Outcome measures for MI were mortality, relaparotomy rate, length of stay (LOS), time on parental nutrition (TP), and time to full feeds (TFF). Outcome measures for DIOS were: age of onset, number of episodes, and need for laparotomy.

Results

Seventy-five of 376 neonates presented with MI. Fifty-four (92%) required laparotomy. Contrast enema decompression was attempted in nineteen. There were no post-operative deaths. Thirty-nine (72%) neonates with MI were managed with stomas. LOS was longer in those managed with stomas (p = 0.001) and in complex MI (p = 0.002). Thirty-five patients were treated for DIOS. Twenty-five patients were managed with gastrograffin. Ten patients underwent surgical management of DIOS. Overall, MI did not predispose to later development of DIOS. There was a significantly greater incidence of laparotomy for DIOS in children who had MI.

Conclusion

The proportion of neonates with complex meconium ileus was high (49%) and may explain the infrequent utilisation of radiological decompression. Complex MI or management with stomas both significantly increase LOS. Re-laparotomy rate is high (22%) in MI irrespective of the type of management. DIOS is not a benign condition, particularly when the child has had previous abdominal surgery. Early referral to a surgical team is essential in these children.     

Bicarbonate in cystic fibrosis

Background

Cystic fibrosis (CF, mucoviscidosis) is caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), which is a chloride and bicarbonate channel necessary for fluid secretion and extracellular alkalization. For a long time, research concentrated on abnormal Cl^- and Na⁺ transport, but neglected bicarbonate as a crucial factor in CF.

Predicting hypoxia in cystic fibrosis patients during exposure to high altitudes

BACKGROUND: For patients with cystic fibrosis (CF)-related partial respiratory insufficiency and reduced arterial oxygen tension at ground level, the mild hypobaric environment on commercial jet aircraft poses the risk of severe hypoxemia. Thus, physicians should be able to estimate the extent of in-flight hypoxia. OBJECTIVES: To derive tools for estimating the expected drop in arterial oxygen partial pressure (paO(2)) and oxygen saturation (saO(2)) in young adult CF patients with mild to moderate airway obstruction during exposure to the hypobaric conditions aboard commercial aircraft and to test the predictive power of a hypobaric chamber simulation. METHODS: Blood gases of 12 CF patients were measured at ground level, at two altitudes in a hypobaric chamber (2000 and 3000 m) and during two 3.5-h flights at cabin altitudes of 1855 m and 1700 m. The altitude dependence of paO(2) and saO(2) in the chamber and during the flights was calculated and results were used to derive estimation equations for in-flight values. RESULTS: In the chamber, saO(2) decreased by 0.33% per 100 m vertical ascent, and this rate increased significantly at altitudes >2000 m. Predicted saO(2) differed from in-flight value by <5%, and agreement between in-flight saO(2) decrease rate and chamber data was good. paO(2) decreased at a rate of 0.99 mm Hg/100 m in the chamber and by 1.33 mm Hg/100 m during flights. None of the subjects showed any clinical symptoms during the flights and the chamber simulation. CONCLUSION: During our worst-case scenario, i.e. the hypobaric chamber simulation at 3000 m, 90% of patients tolerated paO(2) values below the commonly recommended threshold of 50 mm Hg, probably due to adaptation to chronic hypoxemia and lung function impairment. We propose the following equations for an estimation of the expected extent of in-flight hypoxemia in CF patients with mild to moderate airway obstruction and a flight duration of up to 3.5 h: -paO2[Alt]=paO2[ground] -1.33 x Alt[mm Hg], and -saO2[Alt]=saO2[ground] -0.33 x Alt [%], with Alt=altitude in 100 m. In addition to the overall clinical situation of a patient, these equations will serve as a practical supportive tool for the assessment of the fitness to fly in the primary care setting.     

Improved glutathione status in young adult patients with cystic fibrosis supplemented with whey protein

BACKGROUND: The lung disease of cystic fibrosis is associated with a chronic inflammatory reaction and an over abundance of oxidants relative to antioxidants. Glutathione functions as a major frontline defense against the build-up of oxidants in the lung. This increased demand for glutathione (GSH) in cystic fibrosis may be limiting if nutritional status is compromised. We sought to increase glutathione levels in stable patients with cystic fibrosis by supplementation with a whey-based protein. METHODS: Twenty-one patients who were in stable condition were randomly assigned to take a whey protein isolate (Immunocal, 10 g twice a day) or casein placebo for 3 months. Peripheral lymphocyte GSH was used as a marker of lung GSH. Values were compared with nutritional status and lung parameters. RESULTS: At baseline there were no significant differences in age, height, weight, percent ideal body weight or percent body fat. Lymphocyte GSH was similar in the two groups. After supplementation, we observed a 46.6% increase from baseline (P < 0.05) in the lymphocyte GSH levels in the supplemented group. No other changes were observed. CONCLUSION: The results show that dietary supplementation with a whey-based product can increase glutathione levels in cystic fibrosis. This nutritional approach may be useful in maintaining optimal levels of GSH and counteract the deleterious effects of oxidative stress in the lung in cystic fibrosis.     

Hypoglycaemia in cystic fibrosis: An analysis of a single centre adult cystic fibrosis clinic

Background

Hypoglycaemia in cystic fibrosis (CF) is known to occur during oral glucose tolerance tests (OGTT) and continuous glucose monitoring, however demographic, clinical and mechanistic data are limited. The aims of this study were to review patient electronic medical records (EMR) in order to 1) describe patient characteristics of a university teaching hospital CF clinic, 2) determine the prevalence of hypoglycaemia on OGTT and explore associations with demographic and clinical characteristics, and 3) explore patient reported symptoms suggestive of hypoglycaemia documented in the EMR.

Year to year change in FEV1 in patients with cystic fibrosis and different mutation classes

In patients with cystic fibrosis, most treatments addressing the underlying basic defect are mutation or mutation class specific. These treatments are disease modifying if they lower the year to year change in lung function. We therefore calculated the current loss of lung function, measured by year to year change in forced expired volume in 1 s in 11,417 patients included in the European Cystic Fibrosis Society Patient Registry. Whereas patients with at least one mutation of class IV or V have on average a lower year to year change, we did not find a difference between patients with a stop codon mutation, homozygous for F508del or at least one class III mutation. These data are useful background information to discuss the impact of different disease modifying treatments.     

Pseudomonas aeruginosa bacteraemia in an adult with cystic fibrosis and acute appendicitis

Despite their high bacterial load, bacteraemia is rare in patients with cystic fibrosis (CF). We report an adult with CF who developed Pseudomonas aeruginosa bacteraemia during an episode of acute appendicitis. The Pseudomonas aeruginosa isolated from the blood culture was confirmed by molecular typing to be the same transmissible strain responsible for the patient's chronic pulmonary infection. We hypothesise that this patient's bacteraemia was caused by Pseudomonas aerunginosa in swallowed sputum, crossing the inflamed appendiceal wall and entering the blood stream.     

Predictors of desaturation during formal hypoxic challenge in adult patients with cystic fibrosis

Assessment of the potential risk of in flight hypoxaemia in patients with cystic fibrosis is often based on a hypoxic challenge where individuals have saturations and/or blood gases taken before and after inspiring 15% normobaric oxygen. The aim of this study was to see if routine clinical measurements could predict the outcome of this test. This was a prospective study comparing the modified 6-min walking test, lung function, body mass index, Northern (N) and Shwachman-Kulczycki (SK) scores with a hypoxic challenge (flight test) in 69 adults attending the Leeds regional CF Unit. Although, there was a significant correlation between post flight test PaO(2) and N score (P=0.003), SK score (P=0.002), FVC % predicted (P=0.01), FEV(1) % predicted (P=0.002), resting saturations (P<0.001), 6 min saturation on walking test (P<0.001) and baseline PaO(2) (P<0.001), no single parameter could accurately predict all patients who desaturated during the flight test. No individual clinical parameter appears to fully predict the need for in flight oxygen but patients most at risk appear to have either a low FEV(1) (<60%), high N score (>13) or low baseline PaO(2) (<10.5 kPa).     

Acute Burkholderia cenocepacia pyomyositis in a patient with cystic fibrosis

IntroductionExtra-pulmonary complications of Burkholderia cepacia complex (Bcc) infection in patients with cystic fibrosis are unusual. To the best of the authors' knowledge no case of pyomyositis secondary to Bcc infection has been reported previously.Case presentationWe report a case of pyomyositis of the forearm caused by Bcc infection in a patient with CF. We also briefly discuss the management of pyomyositis.ConclusionPyomyositis is a potential extra-pulmonary complication of Bcc infection in patients with CF. A high index of clinical suspicion is required to make a prompt diagnosis. Final diagnosis may need MRI. An early diagnosis, aggressive medical therapy, multidisciplinary care and timely surgical intervention are all essential for proper management of this condition.     

Development, validation, and implementation of a questionnaire assessing disease knowledge and understanding in adult cystic fibrosis patients

BackgroundThe number of adults living with cystic fibrosis (CF) is increasing, necessitating an assessment of knowledge in this growing population.MethodsA questionnaire assessing CF knowledge was completed by 100 CF patients (median age: 26.0 years, range 17–49 years; median FEV₁: 57.0% predicted, range 20–127% predicted). Level of knowledge was correlated with clinical and sociodemographic characteristics.ResultsQuestionnaire validation showed acceptable internal consistency (α = 0.75) and test–retest reliability (0.94). Patients had fair overall understanding of CF (mean = 72.4%, SD = 13.1), with greater knowledge of lung and gastrointestinal topics (mean = 81.6%, SD = 11.6) than reproduction and genetics topics (mean = 57.9%, SD = 24.1). Females and those with post-secondary education scored significantly higher (p < 0.05).ConclusionsThis study validated a questionnaire that can be utilized to assess CF knowledge. Although CF patients understand most aspects of their disease, knowledge deficits are common – particularly regarding genetics and reproduction – and should be considered when developing CF education programs.     

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution

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.

Defining palliative care in cystic fibrosis: A Delphi study

Background

The goal of palliative care is to improve quality of life for people with serious illness. We aimed to create a cystic fibrosis (CF)-specific definition of palliative care.

Mutational spectrum of cystic fibrosis in the Lebanese population

BackgroundCystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians; it is however, considered to be rare in the Arab populations. Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Arabs, especially from the Lebanese population, are limited.MethodsTwenty-two unrelated Lebanese families, with at least one child with CF, were studied. DNA extracts from blood samples of patients and parents were screened for CFTR gene mutations.ResultsEleven different mutations were identified. Of the 44 alleles studied, the most common mutations were: F508del (34%), N1303K (27%), W1282X (7%), and S4X (7%). Five mutations – not previously reported in the Lebanese population – were identified; these are: S549N, G542X, 2043delG, 4016insG, and R117H-7T.ConclusionsThe most common CFTR mutations in addition to five mutations not previously described in the Lebanese population were identified. Identification of CFTR mutations in the Lebanese population is important for molecular investigations and genetic counseling.