Clinical use of acid steatocrit

Malabsorption of fat is an important gastrointestinal cause of malnutrition and growth retardation in childhood. The gold standard for the evaluation of fat malabsorption is the faecal fat balance method. The acid steatocrit method has recently been introduced as a simple method to evaluate faecal fat. The present study was aimed at evaluating the acid steatocrit in clinical practice. Faecal fat excretion and acid steatocrit results were determined in 42 children, half with and half without fat malabsorption. Acid steatocrit results correlated significantly with both faecal fat excretion ( p < 0.01) and faecal fat concentration ( p < 0.001). Sensitivity and specificity of the acid steatocrit for the diagnosis of malabsorption were 90% and 100%, respectively. We consider the acid steatocrit method useful for the screening and monitoring of patients with steatorrhoea.     

Unrecognised infection in a cystic fibrosis patient

We report a 17-year-old Malay boy with cystic fibrosis who over a 14-month period experienced worsening respiratory symptoms and deteriorating lung function. Burkholderia pseudomallei was eventually isolated from his sputum. He improved clinically following treatment for meliodosis and his lung function returned to normal.     

Cascade carrier-testing in cystic fibrosis

It is good medical practice to offer carrier tests and counselling to the relatives of those affected by recessive disorders. Many are concerned about their own chances of having affected offspring. Cystic fibrosis carrier tests have been feasible since the discovery of the gene in 1989. It was generally agreed that although population screening was not practical, testing should be offered to relatives and their partners. There is evidence that such offers have not always been made and relatives have sometimes found it difficult to be tested. An active cascade programme of the counselling and testing of cystic fibrosis patients' relatives and their partners has operated from Royal Manchester Children's Hospital since 1993. The service operates with dedicated staff, backed up by a specialist cystic fibrosis molecular genetics laboratory and a specialist genetic counselling service. The main target groups are couples or individuals of child-bearing age. There is discouragement of the testing of young children and of grandparents beyond reproductive age, although, if parents or individuals are insistent, testing is often performed, after counselling. An audit of users has shown satisfaction, very few feeling that they were pressured into having the tests. The experience of other centres with cascade-testing in cystic fibrosis is summarised. Cascades can start whenever a sufferer or carrier is identified, although care should be exercised in instituting active cascades in the extended families of newborns identified as carriers in neonatal screening programmes.     

Children's understanding of cystic fibrosis

Sixty-one children aged 4–18 years with cystic fibrosis were interviewed about their understanding of the illness and their attitude towards it. Responses were compared across three age groups: 4–6 years, 7–11 years and 12–18 years, corresponding to Piagetian stages of cognitive development. While there was an obvious progression in knowledge with advancing age, the children's attitude to their illness and therapy varied remarkably between age groups. Those in the 4–6 year group were more positive about themselves and about the effect of therapy than those in the older groups. More than half knew that they were bom with the illness, in contrast to published reports of healthy children's concepts of illness causation for this age group. Children in the 7–11 year group were least likely to feel better after therapy and were least likely to mention anything positive about having cystic fibrosis, despite having a higher mean Schwachman clinical score than those in the oldest group.     

Growth failure in cystic fibrosis

OBJECTIVE: The aim of this study was to describe and compare the nutritional status of children aged 0-18 years attending the cystic fibrosis (CF) clinic at the Royal Children's Hospital, Brisbane, Australia, as outpatients in 1986 and 1996. METHODOLOGY: The heights, weights and pulmonary function of children attending the CF clinic as outpatients in 1986 (n = 97) and 1996 (n = 227) were retrospectively analysed using a computerized database maintained by the CF clinic. The heights and weights were analysed in terms of z scores for height for age (HAZ), weight for age (WAZ) and weight for height (WHZ). Pulmonary function data is not available for all children. Forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and forced mid expiratory flows (FEF) were expressed as a percentage of predicted and are presented here. RESULTS: The 1986 sample consisted of 41 males (age range 0.18-14.59 years, mean age 6.52 (4.33)) and 56 females (age range 0.15-14.97 years, mean age 7.75 (3.70)). The 1996 sample consisted of 111 males (age range 0.09-17.97 years, mean age 8.80 (5.49)) and 114 females (age range 0.12-17.98 years, mean age 8.49 (5.26)). In 1986, males were shorter than females (P = 0.0096) and females had a lower mean FVC than males (P = 0.0438). In 1996, males were shorter, lighter and more wasted than females (P = 0.0357, P = 0.0034 and P = 0.0273, respectively) and females had a lower mean FEV1 and mean FVC than males (P = 0.0176 and P = 0.0079, respectively). Males in 1996 were lighter and more wasted than males in 1986 (P = 0.0023 and P = 0.0139, respectively) and had a lower mean FEV1, mean FVC and mean FEF (P < 0.0001, P = 0.0012 and P = 0.0069, respectively). Females in 1996 were shorter and lighter than females in 1986 (P = 0.0273 and P = 0.0405, respectively) and had a lower mean FEV1, mean FVC and mean FEF (P < 0.0001, P < 0.0001 and P < 0.0001, respectively). When subjects were classified according to FEV1 (FEV1 > or = 75% or FEV1 < 75%), there were no significant differences in z scores between the 1986 group and 1996 group. Similarly, when the 1986 group were matched for gender and FEV1 with the 1996 group, there were no significant differences in z scores for males or females. CONCLUSIONS: It is suggested that the apparent worsening of nutritional status among the 1996 group of CF patients is in fact due to an effect of increased survival of patients with more severe clinical symptoms. The findings from this study highlight the continuing, and in fact, worsening problem of growth failure in children with CF.     

Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosis

BACKGROUND: Infants with cystic fibrosis (CF) can develop episodes of hyponatremic hypochloremic dehydration with metabolic alkalosis when they sweat excessively, which is not caused by sweating in normal infants. We investigated the incidence of the metabolic alkalosis with hypoelectrolytemia in CF infants, the possible risk factors for its occurrence and the importance of the manifestation in the diagnosis of CF. METHODS: In order to evaluate the incidence and the risk factors for the development of this sweat-related metabolic disorder in CF, we reviewed the records of all children diagnosed as having CF before the age of 12 months in a 10-year period. Data analysis included medical history data, clinical features, biochemical parameters (blood pH, serum bicarbonate, sodium, chloride and potassium levels), sweat chloride test values, as well as genetic analysis data. RESULTS: The prevalence of metabolic alkalosis in association with low serum electrolyte concentrations (hyponatremia, hypochloremia, and hypokalemia) in infant CF population in our region was 16.5%. We found no season predilection in its occurrence. Early infant age, breast-feeding, delayed CF diagnosis, heat exhaustion and the presence of severe CF transmembrane conductance regulator mutations are predisposed factors for the development of metabolic alkalosis with hypoelectrolytemia. CONCLUSIONS: The results from our study suggest that metabolic alkalosis with hypoelectrolytemia is a relatively common manifestation of CF in infancy. The possibility of CF should be seriously considered in any infant with this metabolic disorder.     

Allergic bronchopulmonary aspergillosis in cystic fibrosis

ABSTRACT. We determined prospectively over a 12-month period the importance of the fungus Aspergillus in patients with cystic fibrosis.
Aspergillus species was cultured from 10 out of 116 children and adolescents (8.6%), and from 25 of the 1073 sputa (2.3%) collected from these patients. Eighteen of these subjects (15.5%) had positive allergen skin prick tests to Aspergillus species or Aspergillus fumigatus . Fifty-three patients (13%) had blood collected for precipitins and 7 (13%) exhibited type III hypersensitivity to Aspergillus fumigatus . Although 26% had an IgE greater than 200 I.U./ml, only one patient had an IgE greater than 1,000 I.U./ml. We found no evidence of an association between severity of lung disease and either colonisation by or sensitisation to Aspergillus .
No patient fulfilled all our criteria for the diagnosis of allergic bronchopulmonary aspergillosis (ABPA). One teenager (with wheezing, pulmonary infiltrate, positive skin tests, positive sputum culture and markedly elevated IgE) may have had an episode of ABPA. We studied three other children with co-existent asthma in whom it was difficult to establish whether the asthma was related to sensitivity to Aspergillus .
We conclude that ABPA is an uncommon complication of cystic fibrosis in our clinic.     

Flexible fibre-optic bronchoscopy in the management of lung complications in cystic fibrosis

Flexible fibre-optic bronchoscopy was performed under sedation in 24 children with cystic fibrosis. In eight cases bronchoscopy was carried out as a therapeutic procedure. Most children were subjectively improved, but objective evidence of change was minimal. Useful information was obtained in 9/16 children who underwent the procedure for diagnostic purposes. Information included sensitive identification of organisms responsible for lower respiratory symptoms in non-expectorating cases and identification of unsuspected gastro-oesophageal reflux.     

New insights into pulmonary inflammation in cystic fibrosis

Persistent lower airway infection with inflammation is the major cause of morbidity and mortality in cystic fibrosis. This review examines the recent advances in the understanding of airway inflammation in cystic fibrosis, and focuses on the evidence that pulmonary inflammation is, under some circumstances, disassociated from infection, and the potential implications for therapeutic intervention.     

Carnitine metabolites in infants with cystic fibrosis: a prospective study

Acylcarnitine is low in cord blood in patients with cystic fibrosis, suggesting that fatty acid metabolism is disturbed in utcro. Carnitine metabolites (total, free, short- and long-chain acylcarnitine) were measured prospectively in 23 newly diagnosed infants with cystic fibrosis treated with a carnitine-containing, predigested formula for 6–12 months. Total ( p < 0.002), free ( p < 0.004), and long-chain (p < 0.001) plasma concentrations of carnitines were significantly less than controls (n = 48) at diagnosis. Total and free concentrations were corrected with nutritional management, whereas short-and long-chain acylcarnitines remained unchanged. By three years of age all plasma concentrations of carnitine metabolites were significantly less than controls despite a carnitine-containing diet. Urinary carnitine metabolites were increased at diagnosis and follow-up. The physiological significance of these observations in cystic fibrosis is unknown, but could be compatible with disturbed regulatory control with resultant increased utilization.     

A review of abdominal organ transplantation in cystic fibrosis

Lu BR, Esquivel CO. A review of abdominal organ transplantation in cystic fibrosis.
Pediatr Transplantation 2010: 14:954–960. © 2010 John Wiley & Sons A/S. Abstract: With advances in medical treatments, patients with CF are having improved quality of life and living longer. Although pulmonary disease is still the leading cause of morbidity and mortality, this longevity has allowed for the development of other organ dysfunction, mainly liver and pancreas. This review discusses the abdominal organ complications and the role of abdominal organ transplantation in CF. Liver failure and portal hypertension complications are the most common indicators for liver transplantation in CF, and five‐yr survival for isolated liver transplantation is >80%. Deficiency of pancreatic enzymes is almost universal and up to 40% of patients with CF can develop insulin‐dependent diabetes, although the role of pancreas transplantation is less clear and needs further research. Finally, the need for lung transplantation should always be assessed and considered in combination with liver transplantation on a case‐by‐case basis.     

Successful treatment of acute lymphoblastic leukemia in a child with cystic fibrosis

A 3 1/2 year old girl with cystic fibrosis who underwent successful treatment for acute lymphoblastic leukemia remains in complete remission 36 months after diagnosis. We also report high clearance rates of three antineoplastic agents in this patient. Drug doses were adjusted to achieve optimal systemic exposure. © 1994 Wiley-Liss, Inc.     

False negative results on newborn screening for cystic fibrosis

Over a 5 year period in Newcastle, 18 new cases of cystic fibrosis (CF) were diagnosed in children who had been screened in the newborn period. In six of these children, the screening programme failed. Four of these children had a normal screen and an additional two had elevated immunoreactive trypsin (IRT), but there were problems with the notification procedure. Three of the children missed by the screening process had a significantly delayed diagnosis; in all three cases the diagnosis of CF was suspected clinically, but a sweat test was delayed because of false reassurance from the fact that the child had been screened for CF. In a fourth case, multiple elevated sweat electrolyte levels were obtained, but the diagnosis of CF was considered to be in doubt because of the normal IRT assay. A sweat test should be performed on any child in whom there is clinical suspicion of CF.     

Aspergillus allergy and allergic bronchopulmonary aspergillosis in cystic fibrosis

We have found allergic bronchopulmonary aspergillosis in 8.6% of 105 children with cystic fibrosis (CF). Its development was significantly associated with colonisation of the respiratory tract by Pseudomonas aeroginosa but not necessarily by the use of nebulised antibiotics. At the same time, 30% of the 105 CF children had A. fumigatus growing in their sputum, 30% had positive prick skin tests to A. fumigatus , 23% had a positive IgE antibody to A. fumigatus and 19% positive A. fumigatus precipitins (IgG antibodies). All of these features were significantly associated with the use of nebulised antibiotics but more strongly associated with Pseudomonas colonisation. It is possible that the Pseudomonas facilitates sensitisation to A. fumigatus or, alternatively, that A. fumigatus facilitates colonisation by Pseudomonas. Both hypotheses require investigation.     

Peak inspiratory flows in children with cystic fibrosis

OBJECTIVE: To show that in children with moderately severe cystic fibrosis lung disease: (i). inspiratory flow may be reduced; and (ii). peak inspiratory flow may be predicted from height, expiratory flow analysis or body mass index. METHODS: All children attending the Royal Children's Hospital, Melbourne, between May and July, 2001 who had cystic fibrosis, were aged > 5 years, were able to perform spirometry reproducibly and who had a forced expiratory volume in 1 s < 60% predicted were prospectively enrolled. Height, weight, peak inspiratory flow, forced expiratory volume in 1 s and forced vital capacity were recorded. Linear regression analysis was performed. RESULTS: The age range was 9.4-19.9 years. Sixteen boys and 11 girls were studied. All children had a peak inspiratory flow > 0.5 L/s. There was a significant relationship between peak inspiratory flow and forced vital capacity (R2 = 0.50) especially in boys (R2 = 0.65). In boys, peak inspiratory flow was significantly related to forced expiratory volume in 1 s (R2 = 0.47). There was no relationship between peak inspiratory flow and predicted values of expiratory flow, age, height, weight or body mass index. Logistic regression was used to predict the probability that peak inspiratory flow was < 2.0 L/s for a given forced vital capacity. If the forced vital capacity is > 2.5 L, peak inspiratory flow is likely to be > 2.0 L/s. CONCLUSIONS: In children with significant cystic fibrosis lung disease, peak inspiratory flow is likely to be > 0.5 L/s, which is required to activate dry powder inhalers. If the forced vital capacity is < 2.5 L, the peak inspiratory flow may be < 2.0 L/s, and a metered dose inhaler and spacer should be considered. Further studies that investigate the relationship between expiratory flow and peak inspiratory flow against an internal resistance are needed.