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PubMed1998

Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region.

BACKGROUND: Antenatal screening for cystic fibrosis has been endorsed by the US National Institutes of Health. Edinburgh is the only city in the UK with an established routine antenatal screening programme for cystic fibrosis. AIMS: To report the change in numbers of infants diagnosed with cystic fibrosis born in Edinburgh after the introduction of antenatal screening for the disease. POPULATION: Infants diagnosed as having cystic fibrosis (by sweat test or genotyping, or both) in the seven years before antenatal testing (1984-90) and the first five years of antenatal testing (1991-95). Children born in this region who had moved before diagnosis were identified from the UK cystic fibrosis survey database. RESULTS: The incidence of cystic fibrosis decreased from an average of 4.6 to 1.6 children each year with antenatal screening. The reduction in the incidence (65%) was greater than that accounted for by prenatal diagnosis and termination (36%). Of the eight children born with cystic fibrosis during the period of antenatal screening, five had been subject to antenatal screening: three had only one mutation identified, one was missed due to a laboratory error, and one was identified as a one in four risk, but prenatal diagnosis was not performed. CONCLUSIONS: Antenatal testing for cystic fibrosis has successfully reduced the incidence of cystic fibrosis in this region. Although the numbers are small, it is possible that the reduction in numbers may have been greater than might be expected from antenatal screening alone.

Cystic Fibrosis↗

PubMed1990

Serum immunoglobulins E and G anti-Aspergillus fumigatus antibody in patients with cystic fibrosis who have allergic bronchopulmonary aspergillosis.

Patients with cystic fibrosis frequently have pulmonary colonization with Aspergillus fumigatus (Af) and develop anti-Af immunoglobulin E (IgE) and IgG antibodies. The diagnosis of allergic bronchopulmonary aspergillosis in subjects with cystic fibrosis is difficult because of the high incidence of Af colonization, with development of humoral antibody responses. In this study, we sequentially measured serum anti-Af IgE (Af-E) and IgG (Af-G) antibodies by ELISA in subjects with cystic fibrosis. In subjects with cystic fibrosis who have allergic bronchopulmonary aspergillosis, Af-E and Af-G antibodies were significantly increased when compared with other groups of patients with cystic fibrosis who had positive skin tests or precipitins to Af (or both) (p less than 0.01, p less than 0.01, respectively). In addition, increased Af-E and Af-G levels were sometimes seen in other groups, especially subjects with cystic fibrosis who had positive Af skin tests or precipitin tests, two of whom later developed criteria diagnostic of allergic bronchopulmonary aspergillosis. Thus, serum Af-E and Af-G levels were quantitatively increased in subjects with cystic fibrosis who had allergic bronchopulmonary aspergillosis and thus adjunctive data in diagnosis. However, it also suggested that subclinical pulmonary inflammation may also occur.

Adolescent↗

PubMed2005

Blue native/SDS-PAGE analysis reveals reduced expression of the mClCA3 protein in cystic fibrosis knock-out mice.

Cystic fibrosis (CF) is a frequent autosomal recessive disorder caused by mutation of a gene encoding a multifunctional transmembrane protein, the cystic fibrosis transmembrane conductance regulator (CFTR), located in the apical membrane of epithelial cells lining exocrine glands. In an attempt to get a more complete picture of the pleiotropic effects of the CFTR defect on epithelial cells and particularly on the membrane compartment, a bidimensional blue native (BN)/SDS-PAGE-based proteomic approach was used on colonic crypt samples from control and CFTR knock-out mice (cftr-/-). This approach overcomes the difficulties of membrane protein analysis by conventional two-dimensional PAGE and is able to resolve multiprotein complexes. Used here for the first time on crude membrane proteins that were extracted from murine colonic crypts, BN/SDS-PAGE allows effective separation of protein species and complexes of various origins, including mitochondria, plasma membrane, and intracellular compartments. The major statistically significant difference in protein maps obtained with samples from control and cftr-/- mice was unambiguously identified as mClCA3, a member of a family of calcium-activated chloride channels considered to be key molecules in mucus secretion by goblet cells. On the basis of this finding, we evaluated the overall expression and localization of mClCA3 in the colonic epithelium and in the lung of mice by immunoblot analysis and immunohistochemistry. We found that mClCA3 expression was significantly decreased in the colon and lung of the cftr-/- mice. In an ex vivo assay, we found that the Ca2+-dependent (carbachol-stimulated) glycoprotein secretion strongly inhibited by the calcium-activated chloride channel blocker niflumic acid (100 microm) was impaired in the distal colon of cftr-/- mice. These results support the conclusion that a ClCA-related function in the CF colon depends on CFTR expression and may be correlated with the impaired expression of mClCA3.

Amino Acid Sequence↗

PubMed1994

Bicarbonate conductance and pH regulatory capability of cystic fibrosis transmembrane conductance regulator.

The cystic fibrosis transmembrane conductance regulator (CFTR) is an epithelial Cl- channel regulated by protein kinase A. The most common mutation in cystic fibrosis (CF), deletion of Phe-508 (delta F508-CFTR), reduces Cl- secretion, but the fatal consequences of CF have been difficult to rationalize solely in terms of this defect. The aim of this study was to determine the role of CFTR in HCO3- transport across cell membranes. HCO3- permeability was assessed from measurements of intracellular pH [pHi; from spectrofluorimetry of the pH-sensitive dye 2',7'-bis(2-carboxyethyl)-5-(and -6)carboxyfluorescein] and of channel activity (patch clamp; cell attached and isolated, inside-out patches) on NIH 3T3 fibroblasts and C127 mammary epithelial cells transfected with wild-type CFTR (WT-CFTR) or delta F508-CFTR, and also on mock-transfected cells. When WT-CFTR-transfected cells were acidified (pulsed with NH4Cl) and incubated in Na(+)-free (N-methyl-D-glucamine substitution) solutions (to block Na(+)-dependent pHi regulatory mechanisms), pHi remained acidic (pH approximately 6.5) until the cells were treated with 20 microM forskolin (increases cellular [cAMP]); pHi then increased toward (but not completely to) control level (pHi 7.2) at a rate of 0.055 pH unit/min. Forskolin had no effect on rate of pHi recovery in delta F508 and mock-transfected cells. This Na(+)-independent, forskolin-dependent pHi recovery was not observed in HCO3-/CO2-free medium. Forskolin-treated WT-CFTR-transfected (but not delta F508-CFTR or mock-transfected) cells in Cl(-)-containing, HCO3(-)-free solutions showed Cl- channels with a linear I/V relationship and a conductance of 10.4 +/- 0.5 pS in symmetrical 150 mM Cl-. When channels were incubated with different [Cl-] and [HCO3-] on the inside and outside, the Cl-/HCO3- permeability ratio (determined from reversal potentials of I/V curves) was 3.8 +/- 1.0 (mean +/- SEM; n = 9); the ratio of conductances was 3.9 +/- 0.5 (at 150 mM Cl- and 127 mM HCO3-. We conclude that in acidified cells the WT-CFTR functions as a base loader by allowing a cAMP-dependent influx of HCO3- through channels that conduct HCO3- about one-quarter as efficiently as it conducts Cl-. Under physiological conditions, the electrochemical gradients for both Cl- and HCO3- are directed outward, so CFTR likely contributes to the epithelial secretion of both ions. HCO3- secretion may be important for controlling pH of the luminal, but probably not the cytoplasmic, fluid in CFTR-containing epithelia. In CF, a decreased secretion of HCO3- may lead to decreased pH of the luminal fluid.

3T3 Cells↗

PubMed1985

Plasma and urinary catecholamines in patients with cystic fibrosis.

In 43 patients with cystic fibrosis (age 8-23 yr, 26 boys and 17 girls) attending a summer camp in a mountain rehabilitation center and in 25 parents (heterozygotes) plasma epinephrine, norepinephrine, dopamine and plasma activity of dopamine-beta-hydroxylase were determined as well as the 24-h excretion of the free urinary amines (epinephrine, norepinephrine, dopamine), their O-methylated products (metanephrine, normetanephrine, 3-methoxytyramine) and the urinary phenolic acids (vanilmandelic and homovanillic). Also the metabolic breakdown product of serotonin in urine, the 5-hydroxyindoleacetic acid, was determined. Significantly elevated plasma dopamine (0.03-0.45 nmol/liter for controls versus 1.70-2.21 nmol/liter for cystic fibrosis) and slightly higher plasma norepinephrine levels were found in patients with cystic fibrosis. An increased 5-hydroxyindoleacetic acid excretion was noticed in adolescent patients which correlated with the disease state and the extent of lung involvement. No abnormalities of plasma amine levels were seen in the parents of the patients. Despite controversial results, CF patients seem to have an alteration in catecholamine metabolism which is reflected in higher plasma dopamine levels.

Adolescent↗

PubMed2003

Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.

BACKGROUND AND PURPOSE: Cystic fibrosis (CF) in Asian populations is very rare. We performed molecular genetic analysis in 2 Taiwanese CF patients for detection of cystic fibrosis transmembrane conductance regulator (CFTR) mutations. METHODS: Temporal temperature gradient gel electrophoresis (TTGE) was used for mutation detection, and direct sequencing was used for identification of mutations. RESULTS: In one patient, 2 novel mutations, E7X and 989-992insA, were identified and the carrier status of his parents was confirmed. In the other patient, 3 mutations, S895N, 2215insG, and 1898+5G>T, were found. The 2215insG and S895N were found cis in the same chromosome. These splice site, frameshift, and nonsense mutations produce severely truncated CFTR polypeptides which lack a transmembrane domain, nucleotide binding folds, and the regulatory region, and are predicted to be null in CFTR function. CONCLUSIONS: These cases underscore the importance of comprehensive mutation analysis of Taiwanese CF patients. Definitive molecular findings can confirm the clinical diagnosis and facilitate patient management, carrier testing, and genetic counseling. Furthermore, there is an urgent need to understand the mutation spectrum and the clinical features of the CFTR gene in Asian patients in order that a mutation panel can be established for effective screening of CF chromosomes.

Child↗

PubMed1999

Systematic review of antistaphylococcal antibiotic therapy in cystic fibrosis.

BACKGROUND: The respiratory tract in patients with cystic fibrosis is frequently colonised with Staphylococcus aureus. There is great diversity of clinical practice in this area of cystic fibrosis. A systematic review was conducted to study the evidence relating antistaphylococcal therapy to clinical outcome in patients with cystic fibrosis. METHODS: A search strategy already evaluated for the study of the epidemiology of cystic fibrosis clinical trials was used. This yielded 3188 references from which 13 clinical trials of antistaphylococcal therapy were identified. RESULTS: Substantial heterogeneity was observed between trials. In the 13 clinical trials a total of 19 antibiotics were used to assess a wide variety of outcome measures (11 clinical, six laboratory). Both intermittent and continuous treatment strategies were used. Sputum clearance of S aureus was more frequently achieved than any other beneficial outcome. A beneficial effect on pulmonary function was rarely measured or observed. Although five randomised clinical trials were identified, the extent of heterogeneity precluded the use of meta-analysis for further synthesis of information. CONCLUSIONS: Antistaphylococcal treatment achieves sputum clearance of S aureus in patients with cystic fibrosis. Prophylactic antistaphylococcal treatment in young children with cystic fibrosis is likely to be of clinical benefit. It remains to be determined whether the use of "prophylactic" versus "intermittent" antistaphylococcal therapy in cystic fibrosis is associated with improved lung function and/or chest radiographic scores, an increase in bacterial resistance, or earlier acquisition of Pseudomonas aeruginosa. A large randomised clinical trial lasting approximately two years is urgently required to address this problem.

Anti-Bacterial Agents↗

PubMed1996

Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections.

Cystic fibrosis (CF) patients are hypersusceptible to chronic Pseudomonas aeruginosa lung infections. Cultured human airway epithelial cells expressing the delta F508 allele of the cystic fibrosis transmembrane conductance regulator (CFTR) were defective in uptake of P. aeruginosa compared with cells expressing the wild-type allele. Pseudomonas aeruginosa lipopolysaccharide (LPS)-core oligosaccharide was identified as the bacterial ligand for epithelial cell ingestion; exogenous oligosaccharide inhibited bacterial ingestion in a neonatal mouse model, resulting in increased amounts of bacteria in the lungs. CFTR may contribute to a host-defense mechanism that is important for clearance of P. aeruginosa from the respiratory tract.

Animals↗

PubMed1995

Efficiency of oxidative work performance of skeletal muscle in patients with cystic fibrosis.

BACKGROUND: Exercise intolerance in patients with cystic fibrosis is commonly attributed to reduced pulmonary and nutritional status. The possible role of diminished efficiency of mitochondrial oxidative phosphorylation in relation to skeletal muscle performance was investigated in patients with cystic fibrosis. METHODS: In vivo synthesis of ATP in skeletal muscle during submaximal exercise was studied in eight patients with cystic fibrosis aged 12-17 years, and in 19 healthy control subjects aged 8-36 years. The intracellular pH and concentrations of phosphate compounds were calculated at four steady states from phosphorus-31 labelled nuclear magnetic resonance spectroscopy measurements in the forearm muscle during bulb squeezing in an exercise protocol. Normalised power output, expressed as percentage maximal voluntary contraction (Y, in %MVC), was related to the energy force of ATP hydrolysis (X = ln [ATP]/[ADP][Pi]). This relationship provides an in vivo measure of efficiency of oxidative work performance of skeletal muscle. RESULTS: During all workloads (but not at rest) intracellular pH was higher in the patients with cystic fibrosis than in the controls. The linear least square fit for Y = a-bX showed high correlations in both groups; the slope b was 19% lower in the patients than in the controls (11.8% v 14.5% MVC/ln M; 95% confidence interval for difference 0.3 to 5.0). CONCLUSIONS: In patients with cystic fibrosis oxidative work performance of skeletal muscle is reduced. This may be related to secondary pathophysiological changes in skeletal muscle in cystic fibrosis.

Adolescent↗

PubMedDate not supplied

Review of the abdominal manifestations of cystic fibrosis in the adult patient.

Cystic fibrosis is a common inherited fatal disease. As the life expectancy of affected individuals continues to increase with advances in disease management, this disease is no longer limited to the pediatric population. Currently, 40% of patients with cystic fibrosis are adults. In addition, patients may not present until adulthood and frequently have extrapulmonary symptoms. Abdominal manifestations are common and affect multiple organ systems. Hepatobiliary manifestations include fatty infiltration of the liver, gallbladder abnormalities, bile duct abnormalities, focal biliary fibrosis, and multinodular cirrhosis. Manifestations in the pancreas include acute pancreatitis, fatty replacement, calcifications, cysts, duct abnormalities, and carcinoma. Gastrointestinal manifestations include gastroesophageal reflux, peptic ulceration of the gastric and duodenal mucosa, distal intestinal obstruction syndrome, intussusception, appendicitis, fibrosing colonopathy, pneumatosis intestinalis, rectal mucosal prolapse, malignancies, and pseudomembranous colitis. Renal manifestations include nephrolithiasis, as well as secondary renal complications such as interstitial nephritis due to antibiotic therapy and amyloidosis. Awareness of these manifestations is important to successfully guide management of cystic fibrosis in adult patients.

Abdomen↗

PubMed1986

Asymptomatic carriage of Clostridium difficile in patients with cystic fibrosis.

Faecal samples from 37 patients with cystic fibrosis and 40 control patients at the Brompton Hospital and the London Chest Hospital were examined for the presence of Clostridium difficile. The organism was isolated from 2 (17%) of control patients who were receiving antibiotics and from one (3.6%) of control patients who had no antimicrobial treatment. Thirty two per cent of the patients with cystic fibrosis excreted C difficile, though none of them had diarrhoea. Two of the three isolates from control patients and nine of the 12 isolates from patients with cystic fibrosis produced toxin B (cytotoxin) in vitro. Toxin B was present in the stools of one of the control patients and three of the patients with cystic fibrosis; toxin A (enterotoxin) was not detected in the faeces of the patients with cystic fibrosis. Two cytotoxigenic strains of C difficile isolated from patients with cystic fibrosis were examined in hamsters; both were virulent, and the animals died.

Adolescent↗

PubMed1971

Hydroxyapatite in the pathogenesis of cystic fibrosis.

Submandibular saliva collected from cystic fibrosis patients and control subjects was separated by centrifugation into an insoluble deposit and a clear supernatant. The resulting calcium and phosphorus analyses performed on both fractions warranted a closer investigation as a consistent Ca/P molar ratio of 1.5 was found in the deposit of the cystic fibrosis patients, while no consistent ratio >1.0 was found in the deposit of the control subjects. The expected result, that calcium and phosphorus in the deposit of cystic fibrosis patients is present as the solid phase of hydroxyapatite, was confirmed by a detailed comparison of x-ray powder diffraction patterns of an ashed sample of this deposit and a similarly treated synthetic sample of hydroxyapatite.

Adolescent↗

PubMed1994

The quantitative distribution of nebulized antibiotic in the lung in cystic fibrosis.

Nebulized antibiotic therapy in cystic fibrosis is an established procedure. The present study was designed to quantitate deposition, and assess its relation to the disease state. Twenty seven children and young adults with cystic fibrosis (mean 11.6 years, range 4-23 years, 12 females) were studied to establish the quantity and pattern of deposition of nebulized tobramycin in the respiratory tract. A single (120 mg) dose of nebulized 99 m technetium-labelled tobramycin was administered, and imaged with a gamma-camera. The mean penetration index (which compares the distribution of 81 m-Krypton gas with Tc-radioaerosol) was also used to measure peripheral deposition efficiency. The aerosol mass median diameter (MMAD) for the compressor-nebulizer system used was 5.3 u, measured with the Malvern Mastersizer. Serial sputum samples were fluroimmunoassayed for tobramycin in nine patients. A mean of 8.0 (SEM 1.0) mg tobramycin reached the lungs. There was no relationship between the total pulmonary deposition and indices of pulmonary damage in cystic fibrosis. Sixteen percent of the lung tobramycin reached the periphery. The greater the lung damage as indicated by FEV1 and Chrispin-Norman scores, the smaller the proportion of pulmonary tobramycin that reached the periphery. The mean penetration index increased with increase in the FRC, but bore no relation to other respiratory function tests or to chest X-ray scores. Sputum tobramycin concentrations reached levels bactericidal for Pseudomonas aeruginosa. Airway obstruction and damage affected the proportion of pulmonary tobramycin reaching the periphery. The proportion of tobramycin reaching the lungs was small and variable.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1985

Anion-exchange chromatography to determine the concentration of chloride in sweat for diagnosis of cystic fibrosis.

For the diagnosis of cystic fibrosis, we use the "Macroduct Sweat Collection System" (Wescor) to sample sweat, and anion-exchange chromatography to determine its chloride content. The chromatographic system consists of a Whatman Partisil SAX 10-microns column, an isocratic phosphate-buffered mobile phase, and ultraviolet detection at 200 nm. The sweat chloride concentrations of 10 individuals with cystic fibrosis ranged from 101 to 131 mmol/L (mean 111, SD 9 mmol/L). For 11 controls the values ranged from 13 to 54 mmol/L (mean 28, SD 11 mmol/L). We conclude that the procedure is reliable for the diagnosis of cystic fibrosis.

Adult↗

PubMed1996

Genetic and geographical variability in cystic fibrosis: evolutionary considerations.

We have studied cystic fibrosis from an evolutionary perspective by focusing on three main points: the high frequency of cystic fibrosis; the different spectrum of mutations that cause the disease in different areas of Europe; and the age of the delta F508 mutation. Several hypotheses have been suggested to explain the high frequency of cystic fibrosis. We argue that the most plausible is heterozygote resistance to cholera and to other dehydrating intestinal diseases. Different population sizes in the past could explain the higher diversity among cystic fibrosis mutations found in southern Europe. Three microsatellite loci are found close to the delta F508 mutation. The reconstruction of the original microsatellite haplotype in which delta F508 arose, and of the genealogy of the microsatellite haplotypes bearing the mutation, allowed us to date the mutation event at around 50,000 years ago.

Cystic Fibrosis↗

PubMed1995

A cystic fibrosis mutation associated with mild lung disease.

BACKGROUND: Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Among Dutch patients with cystic fibrosis, delta F508 is the most common mutation and A455E the second most common mutation of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7. A455E is associated with preserved pancreatic function and residual secretion of chloride across membranes. We investigated whether it is also associated with less severe pulmonary disease in patients with cystic fibrosis. METHODS: A total of 33 patients with compound heterozygosity for the A455E mutation were matched according to age and sex with patients who were homozygous for the delta F508 mutation. The pairs were analyzed with respect to the following outcome variables: age at diagnosis, pulmonary-function values, and the frequency of pseudomonas colonization, pancreatic sufficiency, and diabetes mellitus. RESULTS: Cystic fibrosis was diagnosed at a later age in the patients with the A455E mutation than in the delta F508 homozygotes (mean age at diagnosis, 15.0 vs. 3.1 years; P < 0.001). Fewer patients with the A455E mutation had pancreatic insufficiency (21.2 percent vs. 93.9 percent, P < 0.001), and none had diabetes mellitus (0 percent vs. 27.3 percent, P = 0.004). Forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) were significantly higher in the patients with the A455E mutation (mean FEV1, 73.9 percent of the predicted value vs. 54.3 percent of the predicted value; P = 0.002; mean FVC, 88.7 percent of the predicted value vs. 76.3 percent of the predicted value; P = 0.04). Fewer patients with the A455E mutation were colonized with Pseudomonas aeruginosa (33.3 percent vs. 60.6 percent, P = 0.02). CONCLUSIONS: A455E is a common mutation causing cystic fibrosis in the Netherlands. Although several mutations are known to be associated with less severe pancreatic disease, our findings demonstrate a correlation between the A455E mutation and mild pulmonary disease. Because mortality in this disease depends primarily on the progression of pulmonary disease, patients with the A455E mutation have a better prognosis than patients who are homozygous for the delta F508 mutation.

Adolescent↗

PubMed1997

Effect of vitamin K1 supplementation on vitamin K status in cystic fibrosis patients.

BACKGROUND: Patients with cystic fibrosis are at risk for impaired vitamin K status due to fat malabsorption from pancreatic insufficiency. This study was designed to assess vitamin K status and measure the effect of vitamin K1 supplementation in cystic fibrosis patients. METHODS: Eighteen outpatients participated in a crossover study to determine the effect of vitamin K1 (phylloquinone) supplementation. After obtaining initial data, each subject was randomly assigned to either a 4-week study treatment of 5 mg oral vitamin K1 supplementation per week, or no supplementation and then crossed over to the other treatment for a second 4 week period. Plasma, serum and urine samples were collected and analyzed pre-study and at the end of each study period. RESULTS: The mean concentration of plasma vitamin K1 for the supplemented group was significantly higher than the unsupplemented group, [0.34 nmol/L and 0.21 nmol/L, respectively (p < 0.05)]. The percent of undercarboxylated osteocalcin increased on supplementation from 17% to 31%, (p < 0.005). Prothrombin induced in vitamin K absence (PIVKA-II) increased on supplementation from 5 ng/mL to 22 ng/mL, (p < 0.005). The ratio of urinary gamma-carboxyglutamic acid/creatinine was similar for both study periods. CONCLUSIONS: In contrast to other studies in cystic fibrosis, this study demonstrated a need for vitamin K1 supplementation. The carboxylation state of osteocalcin and PIVKA-II were the most sensitive indices of changes in vitamin K1 status. Although the 5 mg vitamin K1/week dose improved these vitamin K parameters, normal levels were not achieved.

1-Carboxyglutamic Acid↗

PubMed1995

Cystic fibrosis: genotypic and phenotypic variations.

Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene product, named cystic fibrosis transmembrane conductance regulator (CFTR), corresponds to a cAMP-regulated chloride channel found almost exclusively in the secretory epithelial cells. Although the major mutation that results in a single amino acid deletion (F508) accounts for 70% of the disease alleles, more than 550 additional mutant alleles of different forms have been detected. Many of these mutations can be divided into five general classes in terms of their demonstrated or presumed molecular consequences. In addition, a good correlation has been found between CFTR genotype and one of the clinical variables--pancreatic function status. An unexpected finding, however, is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases. Thus, the implication of CFTR mutation is more profound than CF alone.

Alternative Splicing↗