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PubMed1983

Sweat tests to diagnose cystic fibrosis in adults.

Twenty five patients with cystic fibrosis and 25 controls were studied to define a sweat sodium concentration in adults that could be taken as diagnostic of cystic fibrosis. Some of the controls had a sweat sodium concentration of over 50 mmol(mEq)/l, and thus cystic fibrosis should be diagnosed in an adult only when two measurements of sweat sodium concentration are above 70 mmol/l. In cases in which the sweat sodium concentration was borderline a suppression test using fludrocortisone improved the accuracy of diagnosis; this test entails recording the lowest concentration reached after administration of the drug. A scatter diagram of the baseline sweat sodium concentrations plotted against the lowest concentration attained after suppression with fludrocortisone may aid the diagnosis further.

Adolescent↗

PubMed1986

Pancreatic cystosis in cystic fibrosis.

Two patients with cystic fibrosis and pancreatic cystosis are described who had complete replacement of the pancreas by multiple macroscopic cysts. The possible causes and clinical significance of this condition are discussed.

Adolescent↗

PubMed1979

Pulmonary candidiasis in cystic fibrosis.

A child with cystic fibrosis and asthma developed pulmonary candidiasis. Predisposing factors in this patient were prolonged antibiotic therapy, high-dose corticosteroids, and intravenous catherisation. A diagnosis was made by lung puncture and confirmed by rapid response to 5-fluorocytosine.

Asthma↗

PubMed1992

An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms.

When screening for the presence of major cystic fibrosis mutations in Algerian cystic fibrosis families by heteroduplex formation, aberrant heteroduplexes were observed for exon 10 in one family. Here we describe the clinical and molecular findings in a severely affected child of this family, homozygous for the 1609delCA and for the M470V polymorphism.

Algeria↗

PubMed1993

Amyloidosis complicating cystic fibrosis.

Two patients with cystic fibrosis developed acute onset nephrotic syndrome and died within three months of presentation. Examination of renal biopsy specimens indicated amyloid. The onset of proteinuria or a fall in baseline renal function should alert the physician to this rare complication.

Adolescent↗

PubMed1977

Manifestations of cystic fibrosis.

The diagnosis of cystic fibrosis is usually established by the presence of chronic obstructive lung disease and/or gastrointestinal compromise, together with elevated sweat electrolytes or pathologic changes in tissue. Because of its highly variable genetic penetrance, the disease is characterized by varying degrees of involvement of different exocrine systems.

Biliary Tract Diseases↗

PubMed1992

The structure of tracheobronchial mucins from cystic fibrosis and control patients.

Tracheobronchial mucin samples from control and cystic fibrosis patients were purified by gel filtration chromatography on Sephacryl S-1000 and by density gradient centrifugation. Normal secretions contained high molecular weight (approximately 10(7] mucins, whereas the cystic fibrosis secretions contained relatively small amounts of high molecular weight mucin together with larger quantities of lower molecular weight mucin fragments. These probably represent products of protease digestion. Reducing the disulfide bonds in either the control or cystic fibrosis high molecular weight mucin fractions released subunits of approximately 2000 kDa. Treating these subunits with trypsin released glycopeptides of 300 kDa. Trypsin treatment of unreduced mucin also released fragments of 2000 kDa that could be converted into 300-kDa glycopeptides upon disulfide bond reduction. Thus, protease-susceptible linkages within these mucins must be cross-linked by disulfide bonds so that the full effects of proteolytic degradation of mucins remain cryptic until disulfide bonds are reduced. Since various combinations of protease treatment and disulfide bond reduction release either 2000- or 300-kDa fragments, these fragments must represent important elements of mucin structure. The high molecular weight fractions of cystic fibrosis mucins appear to be indistinguishable from control mucins. Their amino acid compositions are the same, and various combinations of disulfide bond reduction and protease treatment release products of identical size and amino acid composition. Sulfate and carbohydrate compositions did vary considerably from sample to sample, but the limited number of samples tested did not demonstrate a cystic fibrosis-specific pattern. Thus, tracheobronchial mucins from cystic fibrosis and control patients are very similar, and both share the same generalized structure previously determined for salivary, cervical, and intestinal mucins.

Amino Acids↗

PubMed2004

High-dose ibuprofen therapy associated with esophageal ulceration after pneumonectomy in a patient with cystic fibrosis: a case report.

BACKGROUND: Lung disease in patients with cystic fibrosis is thought to develop as a result of airway inflammation, infection, and obstruction. Pulmonary therapies for cystic fibrosis that reduce airway inflammation include corticosteroids, rhDNase, antibiotics, and high-dose ibuprofen. Despite evidence that high-dose ibuprofen slows the progression of lung disease in patients with cystic fibrosis, many clinicians have chosen not to use this therapy because of concerns regarding potential side effects, especially gastrointestinal bleeding. However, studies have shown a low incidence of gastrointestinal ulceration and bleeding in patients with cystic fibrosis who have been treated with high-dose ibuprofen. CASE PRESENTATION: The described case illustrates a life-threatening upper gastrointestinal bleed that may have resulted from high-dose ibuprofen therapy in a patient with CF who had undergone a pneumonectomy. Mediastinal shift post-pneumonectomy distorted the patient's esophageal anatomy and may have caused decreased esophageal motility, which led to prolonged contact of the ibuprofen with the esophagus. The concentrated effect of the ibuprofen, as well as its systemic effects, probably contributed to the occurrence of the bleed in this patient. CONCLUSIONS: This report demonstrates that gastrointestinal tract anatomical abnormalities or dysmotility may be contraindications for therapy with high-dose ibuprofen in patients with cystic fibrosis.

Adolescent↗

PubMed1990

Pathology of common bile duct stenosis in cystic fibrosis.

A case of cystic fibrosis complicated by common bile duct stenosis is described. Surgery successfully relieved the obstruction, but was complicated by Candida septicaemia. The previously unreported histological abnormalities of the common bile duct are discussed.

Adolescent↗

PubMed1998

Serum lipase levels pre and post Lundh meal: evaluation of exocrine pancreatic status in cystic fibrosis.

Determination of pancreatic function is essential in cystic fibrosis. The most-reliable method is by measuring pancreatic enzymes in the duodenum following intravenous or oral stimulation. However, this is invasive, time consuming, and expensive. Indirect tests are non-invasive but lack accuracy. This study examines a simple test which combines pancreatic stimulation by Lundh meal and sequential serum lipase measurements. The test was performed on three groups: group A, 36 cystic fibrosis patients carrying two mutations associated with severe disease and pancreatic insufficiency (delta F508, W1282X, G542X, N1303K, S549R); group B, 8 compound heterozygote cystic fibrosis patients carrying one mutation causing mild disease with pancreatic sufficiency (3849 + 10 kb C-->T); group C, 17 healthy individuals. Basal lipase levels were 2-16.5, 16.4-73, and 8.5-27.8 U/l in groups A, B, and C, respectively, with some overlapping between groups. There were three patterns of lipase activity (1) consistently low levels (group A) suggested a severely affected insufficient pancreas; (2) normal basal levels followed by a linear rise peaking 30 min after the meal (found in 16 of 17 healthy individuals and 3 patients of group B) reflecting an unaffected sufficient pancreas; (3) elevated lipase levels not influenced by the meal (5 patients of group B). This reflects an ongoing destructive process in the pancreas which will eventually result in conversion from pancreatic sufficiency to pancreatic insufficiency. Hence serum lipase activity prior to and 30 min after Lundh meal is a good indicator of pancreatic status allowing categorization of cystic fibrosis patients as pancreatic insufficient, pancreatic sufficient, or pancreatic sufficient with late conversion to insufficiency.

Adolescent↗

PubMed1994

Atypical case of cystic fibrosis.

A patient of cystic fibrosis is hereby reported. He had no family history and presented with chest symptoms, only. There was no evidence of hepatic or pancreatic involvement. To our knowledge this represents the first case of its kind from this part of country.

Adult↗

PubMedDate not supplied

Growing up with cystic fibrosis.

Most individuals with cystic fibrosis now survive into adult life, presenting challenges for all concerned. Advances in understanding the molecular basis of the defect have yet to fulfill their promise and in the meantime attention to all physical and psychological problems should continue to improve survival and quality of life.

Adaptation, Psychological↗

PubMed2004

Animal models of cystic fibrosis.

Animal models of cystic fibrosis, in particular several different mutant mouse strains obtained by homologous recombination, have contributed considerably to our understanding of CF pathology. In this review, we describe and compare the main phenotypic features of these models. Recent and possible future developments in this field are discussed.

Animals↗

PubMedDate not supplied

Management of adults with cystic fibrosis.

Many patients with cystic fibrosis now survive into adulthood seeking continuation of their care from adult physicians rather than paediatricians. Attention to detail is the key to successful management of this complex multisystem disorder; care is best provided in the context of a multidisciplinary, team-oriented approach.

Adult↗

PubMed1995

CFTR expression and organ damage in cystic fibrosis.

The cloning of the defective gene in cystic fibrosis (CFTR) is the most important step to date toward understanding the pathogenesis of the disease and developing novel therapeutic strategies. Although many studies have provided insights into the molecular defects and knowledge of the expression and role of the gene, the basic defect and its pathogenesis are still unclear. We hypothesize that organ damage in cystic fibrosis is the result of a combination of at least three main factors: the genotype (the type of mutation that alters the function of the cystic fibrosis transmembrane regulator [CFTR]), the rate of CFTR-mediated chloride secretion in the epithelium of each organ (inferred from the level of expression of the gene), and the anatomical and physiologic characteristics of the affected organs (the size and contents of the ducts). Confirmation of this hypothesis should allow a better understanding of the pathogenesis of the disease and help prevent organ damage.

Chloride Channels↗

PubMed1984

Mycobacterial isolations in young adults with cystic fibrosis.

In 223 patients admitted to hospital with cystic fibrosis mycobacteria were found in the sputa of seven. All of these cases were identified over a six year period after the introduction of routine examination and culture of sputum for acid fast bacilli in patients with cystic fibrosis. The organisms isolated were Mycobacterium tuberculosis in three patients, M chelonei in one, M fortuitum in one, and unidentified mycobacteria in two. The diagnosis was not suspected on clinical grounds in any of the cases; in one patient, however, night sweats were a prominent feature before diagnosis. In four of the patients direct sputum smear examination did not reveal the organism, which was grown subsequently in culture. An unusual phenomenon of liquefaction of the Lowenstein-Jensen culture medium was encountered in five of the seven patients described, which in one case made identification and sensitivity testing of the organism impossible. This phenomenon has been observed in sputum cultures from other patients with cystic fibrosis but not in other pulmonary diseases. Immunological studies performed in three of the patients showed normal numbers of peripheral blood T and B lymphocyte in all three; in vitro lymphocyte transformation to tuberculin PPD was, however, reduced in the patient with extensive M fortuitum infection, which proved fatal. Mycobacteria may be present in the sputa of patients with cystic fibrosis more often than previously recognised and therefore sputum examination and culture for mycobacteria should be performed periodically in these patients.

Adolescent↗

PubMed2003

Liver cirrhosis and portal hypertension in cystic fibrosis.

OBJECTIVES: Liver disease is the second cause of death in cystic fibrosis. The most deleterious complication of liver disease is portal hypertension, which has an estimated prevalence of up to 8%. Portal hypertension may manifest itself by splenomegaly, hypersplenism, gastro-oesophageal bleeding and ascites. The aim of our study was to determine the prevalence, risk factors and invasive management of portal hypertension at our centre. METHODS: One hundred and fifty patients with cystic fibrosis were followed up between 1975 and 2000 in the national cystic fibrosis centre in Israel. Forty patients (27%) had liver disease. All underwent clinical evaluation and laboratory and imaging studies. RESULTS: Portal hypertension was diagnosed in 10 patients (7%), of whom eight were male. The mean age at diagnosis was 11 years (range, 4-17 years). All had severe mutations of the cystic fibrosis transmembrane conductance regulator gene (the CFTR gene), pancreatic insufficiency, meconium ileus or distal intestinal obstruction syndrome and variceal bleeding. Seven patients underwent sclerotherapy to control acute bleeding. Four underwent portosystemic shunting (functioning up to 37 years). Two patients with severe lung and liver disease underwent transjugular intrahepatic portosystemic shunting, which provided bleeding control, but both died while waiting for lung/liver transplantation. One patient underwent liver transplantation due to liver failure and still had good liver and lung function 10 years later. CONCLUSIONS: Portal hypertension is more common among Israeli patients with cystic fibrosis. The unique genetic composition of our population may explain this phenomenon. Risk factors include male gender, pancreatic insufficiency, severe CFTR mutations, meconium ileus and meconium ileus equivalent. Sclerotherapy is the main option to control oesophageal variceal bleeding, while portosystemic shunts offer a prolonged alternative treatment for refractory bleeding. A transjugular intrahepatic portosystemic shunt and liver transplantation may also be effective, but further research is required in order to establish their role.

Adolescent↗

PubMed1985

Symptomatic vitamin E deficiency in cystic fibrosis.

A girl with cystic fibrosis who developed a neurological syndrome probably secondary to vitamin E deficiency at the age of 10 years is described. The severity of the deficiency and the early development of neurological features probably result from reduced intraluminal bile salt concentrations in addition to the pancreatic insufficiency.

Child↗