Test for the Concentration of Electrolytes in Cystic Fibrosis of the Pancreas Utilizing Pilocarpine by Iontophoresis, by Lewis E. Gibson and Robert E. Cooke,Pediatrics; 1959;24:545–549

PEDIATRICS ◽  
1998 ◽  
Vol 102 (Supplement_1) ◽  
pp. 230-231
Author(s):  
Victor Chernick
Keyword(s):  
Cystic Fibrosis ◽  
Filter Paper ◽  
Direct Injection ◽  
Heat Stroke ◽  
Chloride Concentration ◽  
Hot Water ◽  
Sweat Test ◽  
High Concentration ◽  
Sweat Chloride ◽  
Plastic Bag

Aim. To develop a method for stimulating sweating that is rapid, painless, and avoids the risk of heat stress. Background. Since the discovery that there is a high concentration of sodium and chloride in the sweat of patients with cystic fibrosis of the pancreas in 1953, the sweat test has been performed by placing the patient's body in a plastic bag with or without hot water bottles to stimulate sweating. This method is unsatisfactory because of complications such as hyperpyrexia and heat stroke. Direct injection of a cholinergic agent intradermally is painful and therefore not practical. Methods. A rheostat with a milliampere meter was constructed at a cost of ∼$7 that allowed the iontophoresis of pilocarpine into the skin using negative and positive (2-cm diameter) electrocardiography electrodes. The positive electrode was placed on the flexor surface of the arm over a filter paper soaked in 0.2 mL of 0.2% pilocarpine nitrate. Current (0.2 mA) was applied for 5 minutes and then sweat was collected onto a preweighed filter paper for 30 minutes. Sweat chloride was determined by a polarographic method. Sweat tests were performed on 25 patients with cystic fibrosis (CF), 17 asymptomatic relatives and 27 control patients. Patients with CF had sweat chloride concentration >80 mEq/L; relatives, 32.5 mEq/L (highest 57 mEq/L); and control subjects, 21.1 mEq/L (highest 60 mEq/L). Conclusions. The iontophoresis of pilocarpine into the skin is a rapid, painless, safe, and reliable method for stimulating sweating and facilitating the determination of sweat chloride concentration.

Evaluation of a cystic fibrosis screening system incorporating a miniature sweat stimulator and disposable chloride sensor.

1986 ◽  
Vol 32 (5) ◽  
pp. 850-853 ◽  
Author(s):  
W J Warwick ◽  
N N Huang ◽  
W W Waring ◽  
A G Cherian ◽  
I Brown ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chloride Concentration ◽  
Test System ◽  
Sweat Test ◽  
Sweat Chloride ◽  
The Subject ◽  
New System ◽  
Chloride Concentrations ◽  
Cystic Fibrosis Screening ◽  
Center Study

Abstract A new sweat test (CF Indicator; Medtronic, Inc.) for cystic fibrosis (CF) features a compact, portable configuration of electrodes that dispense pilocarpine for iontophoresis. A disposable chloride sensor patch absorbs a specified volume of sweat, in which the chloride concentration is immediately determined as less than 40, 40-60, or greater than 60 mmol/L. We assessed the performance of the system in a five-center study, in relation to the clinical diagnosis and to the Gibson-Cooke sweat test (GCST) as a control test. With sweat chloride concentrations of less than or equal to 40 mmol/L defined as normal and greater than 40 mmol/L as indicating persons at risk for CF, the new system showed 91% specificity and 100% sensitivity for CF, as compared with 92.8% and 100%, respectively, for the GCST. When we used sweat chloride concentrations of less than or equal to 60 mmol/L as probably normal and greater than 60 mmol/L as probably indicative of CF, the new system showed a 99.1% specificity and 98.6% sensitivity, vs 97.8% specificity and 97.9% sensitivity for the GCST test. In both procedures, occasionally insufficient sweat was collected, and this appeared related to the age of the subject. We conclude that the new sweat test system is potentially useful in physicians' offices, in clinics, and similar settings.

scholarly journals Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

2021 ◽  
Vol 24 (1) ◽  
pp. 41-46
Author(s):  
S Fustik ◽  
V Anastasovska ◽  
D Plaseska-Karanfilska ◽  
A Stamatova ◽  
L Spirevska ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Pilot Study ◽  
Newborn Screening ◽  
Chloride Concentration ◽  
Sweat Test ◽  
Sweat Chloride ◽  
Frequent Mutations ◽  
Cftr Mutations ◽  
The Republic ◽  
Cf Transmembrane Conductance Regulator

Abstract There is a widely accepted consensus on the benefits of newborn screening (NBS) for cystic fibrosis (CF) in terms of reduced disease severity, improved quality of life, lower treatment burden, and reduced costs. More and more countries in the world are introducing NBS for CF as a national preventive health program. Newborn screening for CF was introduced in the Republic of North Macedonia (RNM) in April, 2019, after a pilot study of 6 months in 2018. A two-step immunoreactive trysinogen (IRT-IRT) algorithm is performed, and then a sweat test for confirmation/exclusion of the CF diagnosis when the IRT values were both over the cutoff (70.0 and 45.0 ng/mL, respectively). In cases with confirmed diagnosis of CF (a sweat chloride concentration >60.0 mmol/L) or with intermediate sweat test results (a sweat chloride concentration of between 30.0 and 59.0 mmol/L), CF transmembrane conductance regulator (CFTR) mutation analysis is performed. By the end of 2020, over a period of 27 months, including the pilot study period, a total number of 43,139 newborns were screened for CF. Seventeen (0.039%) newborns were diagnosed with CF. In all newly discovered CF cases by screening, the diagnosis was confirmed by determination of the CFTR mutations. The most common CFTR mutation, F508del, was found with an overall incidence of 70.6%. Other more frequent mutations were G542X (11.8%) and N1303K (5.9%). Four mutations were found in one CFTR allele each: G1349D, G126D, 457TAT>G and CFTRdupexon22, with the last one being newly discovered with unknown consequences. An incredibly large difference was found in the incidence of the disease between the Macedonian and Albanian neonatal population, with almost four time higher prevalence among Albanians (1:4530 vs. 1:1284).

scholarly journals Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Friederike Wilbert ◽  
Sarah C. Grünert ◽  
Andrea Heinzmann ◽  
Sebastian F. N. Bode
Keyword(s):  
Cystic Fibrosis ◽  
Systemic Disease ◽  
Gastrointestinal Symptoms ◽  
Chloride Concentration ◽  
Failure To Thrive ◽  
Sweat Test ◽  
Upper Airways ◽  
Inborn Errors ◽  
Hepatic Involvement ◽  
Number Of Patients

Abstract Background Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occur in a significant number of patients, although hepatomegaly is uncommon. Case presentation A 28 months old boy was presented with recurrent upper airways infections, progressive lethargy and weight loss. Clinically hepatomegaly was the main presenting feature and hypoglycemia (minimum 1.4 mmol/l) was noted as were elevated transaminases. The patient did not produce enough sweat to analyze it. Infectious causes for hepatitis were excluded and a broad metabolic work-up initiated. A therapy with starch was initiated to control hypoglycemia. In further course loose stools were reported and pancreatic elastase was found to be reduced. A further sweat test yielded pathological chloride concentration and genetic testing confirmed the diagnosis of cystic fibrosis. Conclusions Cystic fibrosis is a systemic disease and less common presentations need to be considered. Even in the age of CF-newborn screening in many countries CF needs to be ruled out in typical and atypical clinical presentations and diagnostics need to be repeated if inconclusive.

scholarly journals Sweat chloride concentration in patients with heat stroke

2014 ◽  
Vol 9 (1) ◽  
pp. 50-53
Author(s):  
Abdulaziz H. Alzeer ◽  
Hadil A.K. Al Otair
Keyword(s):  
Heat Stroke ◽  
Chloride Concentration ◽  
Sweat Chloride

Cystic Fibrosis and Non-Cystic Fibrosis Bronchiectasis

2014 ◽  
Author(s):  
Michael J Stephen
Keyword(s):  
Cystic Fibrosis ◽  
Differential Diagnosis ◽  
Forced Expiratory Volume ◽  
Sweat Test ◽  
Inherited Disease ◽  
Injury Rates ◽  
Computed Tomographic ◽  
Sweat Chloride ◽  
Average Survival ◽  
Pancreatic Exocrine Deficiency

Cystic fibrosis (CF) is an autosomal recessive disease characterized by an elevated sweat chloride level, diffuse bronchiectasis, and pancreatic exocrine deficiency. It is the most common lethal inherited disease in whites. Most patients present at birth or early childhood, although later diagnoses are not infrequent. Once CF was uniformly fatal at an early age, but advances in nutrition, airway clearance, and infection management have led to an average survival of 37 years. The newest aspect of care is the advent of protein modulators, which may increase life expectancy even further. This chapter discusses the epidemiology, genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, and treatment of CF. The definition, epidemiology, etiology, pathogenesis, diagnosis, management, and prognosis of non-CF bronchiectasis are also covered. Figures illustrate normal and abnormal CF transmembrane conductance regulators, the vicious cycle hypothesis of lung injury, rates of respiratory germs by age, the diagnosis of CF, the therapeutics pipeline for CF, forced expiratory volume in 1 second lung function percent predicted versus body mass index, and the median predicted survival age of patients with CF. A chest x-ray and chest computed tomographic scan of CF are also provided. Tables outline the most common CF mutations in 2011, class mutations of CF, a mnemonic for acute exacerbations of CF, the diagnosis of CF-related diabetes in a stable patient, sweat test values, and the differential diagnosis of bronchiectasis.This chapter contains 9 highly rendered figures, 6 tables, 143 references, 1 teaching slide set, and 5 MCQs.

Cystic Fibrosis and Non-Cystic Fibrosis Bronchiectasis

2014 ◽  
Author(s):  
Michael J Stephen
Keyword(s):  
Cystic Fibrosis ◽  
Differential Diagnosis ◽  
Forced Expiratory Volume ◽  
Sweat Test ◽  
Inherited Disease ◽  
Injury Rates ◽  
Computed Tomographic ◽  
Sweat Chloride ◽  
Average Survival ◽  
Pancreatic Exocrine Deficiency

Cystic fibrosis (CF) is an autosomal recessive disease characterized by an elevated sweat chloride level, diffuse bronchiectasis, and pancreatic exocrine deficiency. It is the most common lethal inherited disease in whites. Most patients present at birth or early childhood, although later diagnoses are not infrequent. Once CF was uniformly fatal at an early age, but advances in nutrition, airway clearance, and infection management have led to an average survival of 37 years. The newest aspect of care is the advent of protein modulators, which may increase life expectancy even further. This chapter discusses the epidemiology, genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, and treatment of CF. The definition, epidemiology, etiology, pathogenesis, diagnosis, management, and prognosis of non-CF bronchiectasis are also covered. Figures illustrate normal and abnormal CF transmembrane conductance regulators, the vicious cycle hypothesis of lung injury, rates of respiratory germs by age, the diagnosis of CF, the therapeutics pipeline for CF, forced expiratory volume in 1 second lung function percent predicted versus body mass index, and the median predicted survival age of patients with CF. A chest x-ray and chest computed tomographic scan of CF are also provided. Tables outline the most common CF mutations in 2011, class mutations of CF, a mnemonic for acute exacerbations of CF, the diagnosis of CF-related diabetes in a stable patient, sweat test values, and the differential diagnosis of bronchiectasis.This chapter contains 9 highly rendered figures, 6 tables, 143 references, 1 teaching slide set, and 5 MCQs.

Negative Effects of Oral Fatty Acid Supplementation on Sweat Chloride in Cystic Fibrosis

PEDIATRICS ◽  
1979 ◽  
Vol 64 (1) ◽  
pp. 50-52
Author(s):  
John D. Lloyd-Still ◽  
Stuart H. Simon ◽  
Hans U. Wessel ◽  
Lewis E. Gibson
Keyword(s):  
Cystic Fibrosis ◽  
Fatty Acid ◽  
Sweat Rate ◽  
Chloride Concentration ◽  
Control Group ◽  
Safflower Oil ◽  
Negative Effects ◽  
Fatty Acid Supplementation ◽  
Acid Supplementation ◽  
Sweat Chloride

Essential fatty acid supplementation with oral safflower oil (1 gm/kg/day) to 11 cystic fibrosis patients (aged 6 months to 14 years) for one year produced no significant change in sweat chloride concentration (mEq/liter) or sweat rate (gm/min/m2). Addition of vitamin E (10 mg/kg/day) to the safflower oil had no effect on sweat chloride concentration or rate compared to placebo. No clinical improvement could be detected compared to a control group. These results do not support previous reports of the effects of fatty acid supplementation on sweat electrolyte concentrations in cystic fibrosis.

scholarly journals Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

Genes ◽  
2020 ◽  
Vol 11 (10) ◽  
pp. 1137
Author(s):  
Nika V. Petrova ◽  
Nataliya Y. Kashirskaya ◽  
Stanislav A. Krasovskiy ◽  
Elena L. Amelina ◽  
Elena I. Kondratyeva ◽  
...  
Keyword(s):  
Lung Function ◽  
Severe Disease ◽  
Pancreatic Insufficiency ◽  
Clinical Manifestations ◽  
Chloride Concentration ◽  
Class I ◽  
Sweat Test ◽  
Microbial Infection ◽  
Sweat Chloride ◽  
In Trans

The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four groups: group 1—patients carrying c.3844T>C and severe class I or II variant in trans; group 2—3849+10kbC>T/F508del patients; group 3—F508del/F508del patients; and group 4—patients with W1282R and “mild” variant in trans. Based on the analyses, W1282R with class I or II variant in trans appears to cause at least as severe CF symptoms as F508del homozygotes as reflected in the early age of diagnosis, high sweat chloride concentration, insufficient pancreatic function, and low lung function, in contrast to 3849+10kbC-T/F508del compound heterozygotes having milder clinical phenotypes. The W1282R pathogenic variant is seemed to lead to severe disease phenotype with pancreatic insufficiency similarly to the F508del homozygous genotype.

Quantification of chloride in sweat with the Cystic Fibrosis Indicator System

1990 ◽  
Vol 36 (1) ◽  
pp. 96-98 ◽  
Author(s):  
W J Warwick ◽  
L G Hansen ◽  
M E Werness
Keyword(s):  
Cystic Fibrosis ◽  
High Resolution ◽  
Chloride Concentration ◽  
Indicator System ◽  
Sweat Test ◽  
The Relationship ◽  
Estimation Program ◽  
Ibm Pc

Abstract We examined the relation between chloride concentration and the area of complexed chloride of Medtronic's Cystic Fibrosis Indicator System, using a high-resolution x-y coordinated digitizer to measure the circumference of the chloride precipitation ring. These digitized points were entered directly into an IBM PC computer, where the area of the chloride precipitation was calculated with use of a repetitive rectangular estimation program. Using these data, we determined the relationship between the area of chloride precipitation and the chloride concentration of the standard NaCl solutions. When the area of the ring of chloride precipitation in the system's patch is measured immediately after the sweat test is completed, the concentration of chloride in the sweat can be calculated with a reproducibility equal to that of the Gibson-Cooke sweat test.

scholarly journals Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations

2017 ◽  
Vol 16 (1) ◽  
pp. 36-40 ◽  
Author(s):  
F. Vermeulen ◽  
C. Le Camus ◽  
J.C. Davies ◽  
D. Bilton ◽  
D. Milenković ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chloride Concentration ◽  
Sweat Chloride
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