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Seven cases of cystic fibrosis complicated by chronic salt depletion and failure to thrive were studied. After replacement of the salt deficit, the metabolic abnormalities resolved, and weight gain was rapid. This should be considered as a differential diagnosis in children who have been diagnosed as having cystic fibrosis, but who fail to thrive despite standard treatment.
Cystic fibrosis is an autosomal recessive disorder affecting chloride transport in pancreas, lung, and other tissues, which is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR). The A1 receptor antagonist 8-cyclopentyl-1,3-dipropylxanthine (CPX) stimulates 36Cl- efflux from pancreatic CFPAC-1 cells which bear the delta F508 genotype common to most cases of cystic fibrosis [Eidelman et al. (1992) Proc. Natl. Acad. Sci. U.S.A. 89, 5562-5566]. By contrast, correction of the cystic fibrosis defect by retrovirus-mediated gene transfer renders the resulting CFPAC-PLJ-CFTR cells insensitive to CPX. We now report that CPX also activates chloride efflux from the CF tracheal epithelial cell line IB3-1 bearing a delta F508 allele, but not if the IB3-1 cells have been repaired by transfection of the wild-type CFTR gene. Similar results were obtained with recombinant NIH 3T3 cells, in which CPX activates 36Cl- efflux from cells expressing the CFTR (delta F508) gene product but not from 3T3 cells expressing the wild-type CFTR. In all three cell types expressing CFTR (delta F508), CPX was found to activate 36Cl- efflux in a dose-dependent manner over the concentration range of 1-30 nM and then gradually lose potency at higher CPX concentrations. Six CPX analogues, A1 receptor antagonists of affinity similar to that of CPX, were found to be much less effective than CPX at activating 36Cl- efflux from CFPAC-1 cells. These included 2-thio-CPX. CPT (8-cyclopentyl-1,3-dimethylxanthine),3,4-dehydro-CPX,3-F-CPX,3-1-CPX, and KW-3902 (8-noradamantyl-1,3-dipropylxanthine).(ABSTRACT TRUNCATED AT 250 WORDS)
A patient with cystic fibrosis and a previous cholecystectomy, underwent Tc-99m mebrofenin scintigraphy to rule out hepatobiliary disease. The scan revealed multiple focal collections of radiopharmaceutical within the liver parenchyma. This unusual pattern of multiple focal parenchymal activity may be specific for patients with cystic fibrosis. This is the first time this unusual pattern has been confirmed at autopsy.
The adjustment of children with cystic fibrosis as rated by parents and teachers was compared to that of physically healthy siblings, normal children, and other chronically ill children. The findings indicated that children with cystic fibrosis achieved an age-adequate level of adjustment at home and school. Adjustment was largely unrelated to the severity of cystic fibrosis. As a group, chronically ill children had less adequate adjustment as rated by parents. However, severe adjustment problems were relatively rare. These findings are consistent with a growing body of literature which suggests that children with cystic fibrosis can cope reasonably well with life tasks and that emotional disturbance is not an inevitable consequence of the disease. Future studies of the cystic fibrosis population should study factors which differentiate adjusted from maladjusted children.
UNLABELLED: Cystic-fibrosis-related diabetes mellitus is frequently underdiagnosed and associated with deterioration of overall clinical status. The purpose of this prospective study was to investigate the influence of insulin on nutrition, lung function and clinical status of cystic fibrosis patients. For a period of 5 y, and at 6-mo intervals, body mass index, forced expiratory volume in 1 sec, Shwachman score, intravenous glucose tolerance test and first-phase insulin response were determined in 30 cystic fibrosis patients (age range 10-35 y) with exocrine pancreatic insufficiency. During the study period, six patients (3M and 3F; age range 15-22 y) developed diabetes and required insulin therapy. The decrease of first-phase insulin response coincided with deterioration of nutritional and clinical status, which improved significantly 6 mo after the institution of insulin. CONCLUSION: Insulin, as an anabolic hormone, could have an influence on body mass, which may affect pulmonary function and clinical condition in cystic fibrosis. It is important to identify cystic fibrosis individuals at risk of developing diabetes so that early insulin therapy is instituted.
Data from 17,857 patients with cystic fibrosis submitted in 1990 to the registry maintained by the Cystic Fibrosis Foundation were used to described their demographic characteristics, survival rates, pulmonary function, anthropometry, microbiologic data, complication rates, and health care utilization. Comparisons with similar data collected in 1969, 1972, and 1978 demonstrated a significant shift in the age distribution of patients with cystic fibrosis. The proportion of adult patients increased fourfold between 1969 (8%) and 1990 (33%). In 1990 the median age of all patients in the cystic fibrosis registry was 12.5 years; the median age at diagnosis was 7 months; cystic fibrosis was diagnosed in 90% of all patients by age 12 years. Meconium ileus at birth was reported for 16% of all patients with a new diagnosis in 1990. Median survival age doubled between 1969 and 1990, from 14 to 28 years. Female patients consistently had a lower median survival age than male patients (25 vs 30 years in 1990). The most frequently reported respiratory pathogen was Pseudomonas aeruginosa, cultured in specimens from 61% of all patients, ranging from 21% of those less than 1 year of age to more than 80% of those aged 26 years or older. Overall, patients with cystic fibrosis are living much longer than in the past but still have chronic pulmonary infections and other medical complications related to their disease, including diabetes, intestinal obstruction, cirrhosis, hemoptysis, and pneumothorax.
Three patients with cystic fibrosis had complete erosion of one of the walls of a frontal sinus caused by a mucopyocele. Only fibrous tissue then separated the purulent contents of the sinus from the orbit or central nervous system. Initial surgery was unsuccessful, but two patients have remained free of symptoms after a second obliterating procedure. Sinus mucocele must be excluded by appropriate radiographic techniques when patients with cystic fibrosis have severe frontal headache and acute ophthalmologic symptoms.
Adults with cystic fibrosis frequently require larger than usual tobramycin dosages in order to achieve desired serum concentrations. The application of dosing methods utilizing first-dose pharmacokinetics has been advocated as a means for rapidly attaining therapeutic serum concentrations. Review of ten cystic fibrosis patients between ages 13 and 33 years admitted for exacerbation of pulmonary disease caused primarily by Pseudomonas aeruginosa (Staphylococcus aureus in two patients) was conducted. Elimination rate constant (ke, h-1) was calculated from two concentration-time pairs obtained following the first dose. Two concentration-time pairs were again measured between cumulative doses (n) 7 to 19, and ke was calculated. First dose ke varied significantly from nth dose ke (p = 0.018). First-dose pharmacokinetic analysis may not be a reliable predictor of maintenance tobramycin dosage requirements due to apparent changes in ke over time.
Seven patients with cystic fibrosis aged 6 to 20 were enrolled for 30 months in a daily exercise program. After 12 months conventional chest physiotherapy was withdrawn. Patients with low initial Shwachman scores improved as regards maximal working capacity. Spirometric data and volume of trapped gas indicated opening of closed airways. We suggest that physical exercise in general should be the basis of pulmonary therapy in cystic fibrosis. Other forms of physiotherapy are advisable when hard physical exercise is not feasible.
Adult cystic fibrosis (CF) patients are increasingly diagnosed with hepatic cirrhosis, cholecystitis, and cholelithiasis. A continuing diagnostic problem is the early detection of cirrhosis prior to diffuse liver involvement. Sonography has been used in evaluating the pancreas, gallbladder, liver, and spleen in cystic fibrosis patients. We used a real-time mechanical sector scanner to study the portal veins in adult CF patients randomly selected from our CF population and correlated the portal vein diameters with liver function studies. A measurement greater than 12 mm was interpreted as a probable sign of portal hypertension. Of 21 patients studied, 14 had portal veins that measured greater than 12 mm, and 12 patients had (although not necessarily at the time of the exam) elevated serum alkaline phosphatase levels. Three patients had associated splenomegaly and thrombocytopenia, and 10 patients also exhibited cholelithiasis and abnormal gallbladders on sonography. Initial results indicate that portal vein measurement may be a sensitive indicator of early portal hypertension. Sonography may, thus, isolate patients at high risk for possible future complications. Serial sonograms can be performed easily in evaluating the progress of liver disease.
Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implications of screening. This paper reviews the evidence on the psychosocial issues raised by newborn screening for cystic fibrosis, in particular the issues of parental attitudes to screening, the evidence from families with an affected infant, the evidence from families with a carrier infant and the lessons for service delivery.
A patient with cystic fibrosis and undetectable serum vitamin E concentrations is described who developed a progressive spinocerebellar syndrome and pigmentary retinopathy with abnormal somatosensory and visual evoked potentials (SSEPs and VEPs). In order to assess the relationship between neurological function and serum vitamin E concentrations in cystic fibrosis, 29 unselected patients who had no neurological symptoms were examined neurologically. Ten were randomly selected for neurophysiological assessment by recording SSEPs and VEPs. Electroretinograms (ERGs) were also performed in five cases. The findings were correlated with serum vitamin E concentrations which were unknown to the neurological investigators prior to completion of the study. Only one patient had definite reflex and sensory abnormalities, and the remaining 28 were clinically normal. The ERG was abnormal in two cases, one of whom had abnormal VEPs. SSEPs were normal in all 10 cases. Twenty six patients had serum vitamin E concentrations below the normal range. In two of the three patients who had definite neurological or electrophysiological abnormalities serum vitamin E concentrations were below the median value for the whole group.
Cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been described, which may have a delayed age of onset or a milder clinical course. Numerous genetic mutations have been described in cystic fibrosis. There are several mutations that are known to be associated with late onset disease or mild clinical disease. Research continues into these genetic mutations and various modifiers that may help to more accurately predict the final phenotypic presentation.
Adults living with cystic fibrosis are less likely than other pulmonary patients to describe themselves as religious, to attend worship services regularly, to use god language, to describe their spiritual life, and in general, to give any obvious, outward indications of their spiritual strength, concerns, and depth. And yet, they have consistently demonstrated in chaplain-patient encounters an awareness of the function and importance of their spirituality in relation to life choices, coping with illness, facing mortality, and expressing life meaning, beliefs, and values. A disciplined approach by chaplains is a key component to engaging these patients so that each person's unique spiritual story unfolds. Results from The Discipline demonstrate how adults with cystic fibrosis are different in their expression and approach to spirituality from other pulmonary patients.
Patients who had cystic fibrosis and acute infectious exacerbations of pulmonary disease produced by Pseudomonas aeruginosa were treated with a combination of tobramycin and ticarcillin. P. aeruginosa recovered from patients was inhibited by lower concentrations of both of these drugs than of gentamicin or carbenicillin. Thirteen courses of treatment were administered to 11 patients (mean, 14.4 days). A favorable response was seen in 11 of 12 completed courses of treatment. Improvement was associated with decreases in white blood cell count, temperature, and sedimentation rate. Adverse reactions were uncommon. Although P. aeruginosa was not eradicated from the sputum, the clinical results suggest that the combination of tobramycin and ticarcillin may be particularly useful for treatment of acute exacerbations of pulmonary disease in patients with cystic fibrosis from whom P. aeruginosa is isolated.
Thirteen children with cystic fibrosis had a totally implantable reservoir surgically inserted for repeated courses of intravenous antibiotics. The youngest patient was 17 months at the time of implantation. The catheters have been in place for an average of 463 +/- 200 days. Forty seven courses of intravenous antibiotics have been given over a total of 832 treatment days. Three patients had complications. One experienced catheter separation from the portal, one catheter became occluded, and a third catheter fractured and migrated to the right atrium but was successfully retrieved percutaneously. The catheters were accepted well by patients and parents. We conclude that implantable reservoir systems, although moderately expensive and not totally free of complications, offer another modality in the management of cystic fibrosis patients.
Since the first published report of mortality in cystic fibrosis in 1969, the median survival among cystic fibrosis patients has risen from 14 to 31 years. The reasons for this improved survival are complex and include earlier diagnosis; improved control of pulmonary infection; aggressive nutritional intervention; and enhanced monitoring of patients in peer-reviewed, accredited centers for cystic fibrosis care, teaching, and research. Emphasis on the importance of research on changing and improved treatment has been effectively communicated to patients and families. As a result, a group of highly educated medical consumers has been created. During the last decade, another focus of rapid change has appeared, that of cost containment in the medical profession, creating the field of managed care. Practicing medical professionals perceive the need for reduction in excessive spending in medicine and have taken a variety of approaches to balance better the value and cost of medical care while maintaining superb quality. Physicians and consumers continue to have concerns about the potential negative impact of managed care on a relatively rare, specialized, and chronic illness such as cystic fibrosis if managed care concepts are applied without proper understanding of the disease. A great concern is that managed care in cystic fibrosis may cause reversal of trends in improved quality and length of survival. The increased length of survival places an increasing demand on the already stressed system of health care financing. Understanding the changing area of managed care is therefore of paramount importance to clinicians involved in cystic fibrosis care. The Cystic Fibrosis Foundation has presented symposia on managed care at each of the last three annual meetings, including the North American Cystic Fibrosis Meeting, October 1996. The following issues were addressed by speakers and panel discussants, with portions excerpted for this review: trends in managed care, measures and guidelines useful in managed care, Medicaid managed care and cystic fibrosis, and practical aspects of using pathways in caring for patients with cystic fibrosis.
Cystic fibrosis (CF) lung disease is characterized by persistent inflammation. Antiinflammatory drugs, such as corticosteroids and ibuprofen, have proved to slow the decline of pulmonary function although their use is limited because of frequent adverse events. We hypothesized that colchicine could be an alternative treatment because of its antiinflammatory properties and upregulatory effect on cystic fibrosis transmembrane regulator (CFTR) closely related proteins. We herein present results obtained in an open study of eight CF children treated with colchicine for at least 6 months. Clinical status was better in all patients and respiratory function tests significantly improved in five. Median duration of antibiotherapy decreased significantly. These preliminary results support our hypothesis of a beneficial effect of colchicine in CF patients and stress the need for a controlled therapeutic trial.