scholarly journals Hyponatremic dehydration and metabolic alkalosis as dominant manifestation in cystic fibrosis infants with mild phenotype - a case series

2018 ◽  
Vol 146 (9-10) ◽  
pp. 581-583 ◽  
Author(s):  
Stojka Fustik ◽  
Tatjana Jakovska ◽  
Dijana Plaseska-Karanfilska
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Clinical Symptoms ◽  
Gastrointestinal Symptoms ◽  
Case Series ◽  
Mild Phenotype ◽  
Mean Values ◽  
Sweat Chloride ◽  
Cf Transmembrane Conductance Regulator ◽  
Compound Heterozygotes

Introduction. Due to increased losses of chloride and sodium in the sweat, children with cystic fibrosis (CF) are predisposed to develop episodes of hyponatremic/hypochloremic dehydration with hypokalemia and metabolic alkalosis when they sweat excessively. Even the patients with mild phenotype may have such episodes of dehydration and salt depletion. Outline of cases. Six cases of pancreatic sufficient (PS) CF patients complicated with episodes of severe hyponatremic dehydration with metabolic alkalosis in infancy are presented. The mean age was 6.3 ? 2.16 months at admission. All the cases had no symptoms suggestive of CF before admission. The most common clinical symptoms at the time of hospitalization were vomiting, anorexia, weight loss, dehydration, irritation, or lethargy. Mean values of blood pH, serum bicarbonate, sodium, chloride, and potassium (mmol/l) were as follows: 7.59 ? 0.06, 41.73 ? 5.78, 117.52 ? 2.88, 66.0 ? 11.58 and 2.62 ? 0.37, respectively. Sweat chloride test was pathological and ranged 69?120 mmol/L. The determination of fecal elastase-1 proved that they were PS (values > 200 ?g/g stool). CF transmembrane conductance regulator gene analyses in six cases confirmed the diagnosis of CF; namely, patients were compound heterozygotes for F508del and other rare mutation or compound heterozygotes for two rare mutations. Conclusion. Distinctive about these cases is that they were PS and had very mild presentation of CF. Without these episodes of dehydration, these patients would have remained undiagnosed until later age. CF should be considered in infants and children presenting with hypoelectrolytemia and metabolic alkalosis even in the absence of respiratory or gastrointestinal symptoms.

scholarly journals Cystic Fibrosis in An Infant: Presented as Pseudo Bartter Syndrome

2016 ◽  
Vol 15 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Jubaida Rumana ◽  
Arpana Lyengar ◽  
Mohammed Maruf Ul Quader ◽  
Mohammad Hanif
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Gastrointestinal Symptoms ◽  
Chloride Concentration ◽  
Bartter Syndrome ◽  
Term Survival ◽  
Multiple Organs ◽  
Sweat Chloride ◽  
History Of ◽  
Renal Tubular

Cystic Fibrosis (CF) can involve multiple organs although the most commonly affected systems are respiratory and gastrointestinal ones. In infancy it can also present as Pseudo Bartter Syndrome which is characterized by hyponatremic, hypochloremic, hypokalamic metabolic alkalosis without renal tubular pathology. We report a 5 month old boy who had history of recurrent episodes of dehydration due to vomiting and recurrent respiratory infection. His biochemical parameters suggestive of Pseudo Bartters Syndrome. Initial sweat chloride test was normal 16 mEq/L whereas the repeated test revealed Sweat chloride concentration of 107 mEq/L. The cystic fibrosis mutation analysis revealed F508 del homozygosity for the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. Cystic fibrosis should be always considered in any infant with metabolic alkalosis and hyponatremic hypochloremic dehydration, whether or not there are association with pulmonary and /or gastrointestinal symptoms. Early diagnosis is essential in improving the prognosis and long term survival of these children.Chatt  Shi Hosp Med Coll J; Vol.15 (1); Jan 2016; Page 57-59

scholarly journals Trans-hiatal herniation following esophagectomy or gastrectomy: retrospective single-center experiences with a potential surgical emergency

Hernia ◽  
2021 ◽  
Author(s):  
P. U. Oppelt ◽  
I. Askevold ◽  
R. Hörbelt ◽  
F. C. Roller ◽  
W. Padberg ◽  
...  
Keyword(s):  
Hernia Repair ◽  
Hiatal Hernia ◽  
Surgical Repair ◽  
Clinical Symptoms ◽  
Gastrointestinal Symptoms ◽  
Case Series ◽  
Gastric Surgery ◽  
Hiatal Hernia Repair ◽  
Single Center ◽  
Asymptomatic Patients

Abstract Purpose Trans-hiatal herniation after esophago-gastric surgery is a potentially severe complication due to the risk of bowel incarceration and cardiac or respiratory complaints. However, measures for prevention and treatment options are based on a single surgeon´s experiences and small case series in the literature. Methods Retrospective single-center analysis on patients who underwent surgical repair of trans-hiatal hernia following gastrectomy or esophagectomy from 01/2003 to 07/2020 regarding clinical symptoms, hernia characteristics, pre-operative imaging, hernia repair technique and perioperative outcome. Results Trans-hiatal hernia repair was performed in 9 patients following abdomino-thoracic esophagectomy (40.9%), in 8 patients following trans-hiatal esophagectomy (36.4%) and in 5 patients following conventional gastrectomy (22.7%). Gastrointestinal symptoms with bowel obstruction and pain were mostly prevalent (63.6 and 59.1%, respectively), two patients were asymptomatic. Transverse colon (54.5%) and small intestine (77.3%) most frequently prolapsed into the left chest after esophagectomy (88.2%) and into the dorsal mediastinum after gastrectomy (60.0%). Half of the patients had signs of incarceration in pre-operative imaging, 10 patients underwent emergency surgery. However, bowel resection was only necessary in one patient. Hernia repair was performed by suture cruroplasty without (n = 12) or with mesh reinforcement (n = 5) or tension-free mesh interposition (n = 5). Postoperative pleural complications were most frequently observed, especially in patients who underwent any kind of mesh repair. Three patients developed recurrency, of whom two underwent again surgical repair. Conclusion Trans-hiatal herniation after esophago-gastric surgery is rare but relevant. The role of surgical repair in asymptomatic patients is disputed. However, early hernia repair prevents patients from severe complications. Measures for prevention and adequate closure techniques are not yet defined.

scholarly journals A European regulatory perspective on cystic fibrosis: current treatments, trends in drug development and translational challenges for CFTR modulators

2018 ◽  
Vol 27 (148) ◽  
pp. 170124 ◽  
Author(s):  
Stefano Ponzano ◽  
Giulia Nigrelli ◽  
Laura Fregonese ◽  
Irmgard Eichler ◽  
Fabio Bertozzi ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Drug Development ◽  
Forced Expiratory Volume ◽  
The European Union ◽  
End Points ◽  
Sweat Chloride ◽  
European Regulatory ◽  
Clinical Models ◽  
Cf Transmembrane Conductance Regulator ◽  
Cftr Modulators

In this article we analyse the current authorised treatments and trends in early drug development for cystic fibrosis (CF) in the European Union for the time period 2000–2016. The analysis indicates a significant improvement in the innovation and development of new potential medicines for CF, shifting from products that act on the symptoms of the disease towards new therapies targeting the cause of CF. However, within these new innovative medicines, results for CF transmembrane conductance regulator (CFTR) modulators indicate that one major challenge for turning a CF concept product into an actual medicine for the benefit of patients resides in the fact that, although pre-clinical models have shown good predictability for certain mutations, a good correlation to clinical end-points or biomarkers (e.g. forced expiratory volume in 1 s and sweat chloride) for all mutations has not yet been achieved. In this respect, the use of alternative end-points and innovative nonclinical models could be helpful for the understanding of those translational discrepancies. Collaborative endeavours to promote further research and development in these areas as well as early dialogue with the regulatory bodies available at the European competent authorities are recommended.

scholarly journals Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era

2018 ◽  
Vol 64 (6) ◽  
pp. 898-908 ◽  
Author(s):  
Joesph R Wiencek ◽  
Stanley F Lo
Keyword(s):  
Cystic Fibrosis ◽  
Multidisciplinary Care ◽  
Disease Status ◽  
Reference Intervals ◽  
Patient Registries ◽  
Screening Programs ◽  
Sweat Chloride ◽  
Clinical Databases ◽  
Standard Of Practice ◽  
Cf Transmembrane Conductance Regulator

Abstract BACKGROUND Cystic fibrosis (CF) is a complex autosomal recessive disease that continues to present unique diagnostic challenges. Because CF was first described in 1938, there has been a substantial growth of genetic and phenotypic information about the disorder. During the past few years, as more evidence has become available, a consortium of international experts determined that the 2008 guidelines from the CF Foundation needed to be reviewed and updated. CONTENT The goal of this review is to highlight the latest advances in CF multidisciplinary care, together with the recent updates to the 2017 CF Foundation diagnostic guidelines. SUMMARY Data from newborn screening programs, patient registries, clinical databases, and functional research have led to a better understanding of the CF transmembrane conductance regulator (CFTR) gene. Recent consensus guidelines have provided recommendations for clinicians and laboratorians to better assist with interpretation of disease status and related CF mutations. The highly recommended Clinical and Functional Translation of CFTR project should be the first resource in the evaluation of disease severity for CF mutations. Screen-positive newborns and patients with high clinical suspicion for CF are always recommended to undergo confirmatory sweat chloride testing with interpretations based on updated reference intervals. Every patient diagnosed with CF should receive genotyping, as novel molecular therapies are becoming standard of practice. The future of CF management must consider healthcare system disparities as CF transitions from a historically childhood disease to a predominantly adult epidemic.

scholarly journals Plasma Levels of the Bioactive Sphingolipid Metabolite S1P in Adult Cystic Fibrosis Patients: Potential Target for Immunonutrition?

Nutrients ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 765
Author(s):  
Emina Halilbasic ◽  
Elisabeth Fuerst ◽  
Denise Heiden ◽  
Lukasz Japtok ◽  
Susanne C. Diesner ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Symptoms ◽  
Gastrointestinal Symptoms ◽  
Lipid Mediator ◽  
Enzyme Linked Immunosorbent Assay ◽  
Healthy Controls ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Sphingosine 1 Phosphate ◽  
Pathogen Colonization

Recent research has linked sphingolipid (SL) metabolism with cystic fibrosis transmembrane conductance regulator (CFTR) activity, affecting bioactive lipid mediator sphingosine-1-phosphate (S1P). We hypothesize that loss of CFTR function in cystic fibrosis (CF) patients influenced plasma S1P levels. Total and unbound plasma S1P levels were measured in 20 lung-transplanted adult CF patients and 20 healthy controls by mass spectrometry and enzyme-linked immunosorbent assay (ELISA). S1P levels were correlated with CFTR genotype, routine laboratory parameters, lung function and pathogen colonization, and clinical symptoms. Compared to controls, CF patients showed lower unbound plasma S1P, whereas total S1P levels did not differ. A positive correlation of total and unbound S1P levels was found in healthy controls, but not in CF patients. Higher unbound S1P levels were measured in ΔF508-homozygous compared to ΔF508-heterozygous CF patients (p = 0.038), accompanied by higher levels of HDL in ΔF508-heterozygous patients. Gastrointestinal symptoms were more common in ΔF508 heterozygotes compared to ΔF508 homozygotes. This is the first clinical study linking plasma S1P levels with CFTR function and clinical presentation in adult CF patients. Given the emerging role of immunonutrition in CF, our study might pave the way for using S1P as a novel biomarker and nutritional target in CF.

scholarly journals Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency

2011 ◽  
Vol 82 (6) ◽  
pp. 546-551 ◽  
Author(s):  
R Sebro ◽  
H Levy ◽  
K Schneck ◽  
D Dimmock ◽  
BA Raby ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sweat Chloride ◽  
Compound Heterozygotes

Hypoelectrolytemia and Metabolic Alkalosis in Infants With Cystic Fibrosis

PEDIATRICS ◽  
1979 ◽  
Vol 63 (4) ◽  
pp. 580-583
Author(s):  
Robert C. Beckerman ◽  
Lynn M. Taussig
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Gastrointestinal Symptoms ◽  
Respiratory Illness ◽  
Acid Base ◽  
Serum Electrolytes ◽  
Sweat Testing ◽  
Hot Weather ◽  
Acid Base Disturbance ◽  
Base Disturbance

The records of all children in the Tucson area diagnosed as having cystic fibrosis (CF) before the age of 12 months were reviewed to ascertain the prevalence of metabolic alkalosis as a major presenting manifestation of CF. Five of eleven infants (46%) in whom CF had been diagnosed between 1 and 12 months of age initially were seen with hypokalemia, hypochloremia, and metabolic alkalosis unassociated with marked dehydration, hyperpyrexia, or major pulmonary and/or gastrointestinal symptoms. Two infants had repeated episodes of metabolic alkalosis; for one of these infants, both episodes of metabolic alkalosis occurred before the diagnosis of CF. It is postulated that chronic loss of sweat electrolytes together with mild gastrointestinal or respiratory illness may predispose the infant with cystic fibrosis to a severe electrolyte and acid-base disturbance. The lack of shock and hyperpvrexia together with the apparent chronicity of electrolyte losses differentiates metabolic alkalosis from the heat prostration syndrome, a more acute complication of cystic fibrosis. Quantitative sweat testing should be part of the evaluation of any infant with unexplained metabolic alkalosis. Serum electrolytes should be assessed regularly in infants with cystic fibrosis during hot weather months.

Cystic fibrosis

2011 ◽  
Author(s):  
R. Mark Beattie ◽  
Anil Dhawan ◽  
John W.L. Puntis
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Symptoms ◽  
Gastrointestinal Symptoms ◽  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Regulator Protein ◽  
Salt And Water Balance ◽  
Cystic Fibrosis Transmembrane

Gastrointestinal manifestations 156Management of gastrointestinal symptoms in children with CF 158Nutrition in CF 158Nutritional management 159Vitamins 160The incidence of cystic fibrosis (CF) is around 1 in 2500. Cases are diagnosed as a consequence of population screening or high-risk screening, or following presentation with clinical symptoms typical of the disorder. The basic defect is in the CFTR (cystic fibrosis transmembrane conductance regulator) protein which codes for a cyclic adenosine monophosphate-regulated chloride transporter in epithelial cells of exocrine organs. This is involved in salt and water balance across epithelial surfaces. The gene is on chromosome 7. There are multiple known mutations, the most common being ...

scholarly journals Genetic Variation Near chrXq22-q23 Is Linked to Emotional Functioning in Cystic Fibrosis

2020 ◽  
Vol 22 (3) ◽  
pp. 319-325
Author(s):  
Eric Barbato ◽  
Barbara Daly ◽  
Sara Douglas ◽  
Mary Kerr ◽  
Paul Litman ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Emotional Functioning ◽  
Association Studies ◽  
Gastrointestinal Symptoms ◽  
Genome Wide Association Studies ◽  
Genetic Modifiers ◽  
Modifier Locus ◽  
Organ Systems ◽  
Related Quality ◽  
Cf Transmembrane Conductance Regulator

Introduction: Cystic fibrosis (CF) is an autosomal recessive disease that affects many organ systems, most notably the pulmonary and gastrointestinal systems. Through genome-wide association studies, multiple genetic regions modifying CF-related pulmonary and gastrointestinal symptoms have been identified, but translation of these findings to clinical benefit remains elusive. Symptom variation in CF patients has been associated with changes in health-related quality of life (HRQOL), but the relationship between CF symptom-modifying genetic loci and HRQOL has not been explored. The purpose of this study was to determine whether two previously identified genetic modifiers of CF-related pathology also modify the subscales of HRQOL. Methods: HRQOL and genotype data were obtained and analyzed. Linear regressions were used to examine the amount of variance in HRQOL subscales that could be explained by genotype for each modifier locus. Results: A significant regression equation was found between genotype for rs5952223, a variant near chrXq22-q23, and emotional functioning in a sample of 129 CF patients. Discussion: These data suggest that genotype for this single-nucleotide polymorphism is associated with emotional functioning in CF patients and highlight this genetic region as a potential therapeutic target, irrespective of CF transmembrane conductance regulator genotype.

Cystic Fibrosis Diagnosis in Newborns, Children, and Adults

2019 ◽  
Vol 40 (06) ◽  
pp. 701-714 ◽  
Author(s):  
Carlo Castellani ◽  
Barry Linnane ◽  
Iwona Pranke ◽  
Federico Cresta ◽  
Isabelle Sermet-Gaudelus ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Ex Vivo ◽  
Sweat Test ◽  
Intestinal Epithelia ◽  
Sweat Testing ◽  
Cftr Protein ◽  
Cf Transmembrane Conductance Regulator

AbstractThe diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern CF care. CF NBS programs can identify CF prior to clinical presentation, but for the advantages of an early diagnosis to accrue a scrupulous system must be in place to ensure all steps in the program are performing. As we move rapidly into the era of CF transmembrane conductance regulator (CFTR) protein modulators, the opportunity to start a presymptomatic infant, identified through CF NBS, on these agents offers the prospect of true disease-modifying interventions which could result in a paradigm shift in CF care.Conversely, the introduction of NBS has resulted in many children being asymptomatic at the time of diagnosis. Some screened newborns are classified as “CF Screening Positive, Inconclusive Diagnosis”, or “CFTR-related metabolic syndrome” when the diagnosis can neither be confirmed nor excluded. Appropriate assessment and follow-up should be arranged at specialist centers as a proportion of these infants and adults will eventually be diagnosed with CF.Symptoms and signs are particularly pertinent when considering a diagnosis of CF outside the context of NBS. In older patients with a late diagnosis, the spectrum of clinical presentation can be very variable with vigilant clinicians from multiple specialties suspecting the diagnosis in conditions such as recurrent pulmonary infections, male infertility, pancreatitis, nasal polyposis, and malabsorption.In addition to clinical symptoms or positive NBS results, sweat test and genetic analysis are cornerstones in the diagnosis of CF, but in some cases the diagnosis cannot be confirmed on genetic or sweat testing. Difficult diagnosis may be supported by in vivo or ex vivo electrophysiology measurements on respiratory or intestinal epithelia. This can be done by either measuring transepithelial nasal potential difference or intestinal current measurements.

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