scholarly journals Variation of Sweat Sodium and Chloride with Age in Cystic Fibrosis and Normal Populations: Further Investigations in Equivocal Cases

1992 ◽  
Vol 29 (2) ◽  
pp. 145-152 ◽  
Author(s):  
J M Kirk ◽  
M Keston ◽  
I McIntosh ◽  
S Al Essa
Keyword(s):  
Cystic Fibrosis ◽  
Matched Control ◽  
Cystic Fibrosis Gene ◽  
Sweat Test ◽  
Test Results ◽  
Normal Populations ◽  
Sweat Chloride ◽  
Age Related ◽  
Older Subjects ◽  
Sweat Sodium

Patients attending cystic fibrosis clinics had sweat sodium and chloride concentrations measured, were reassessed clinically and had DNA studies performed. Sweat test results were compared with a matched control population. In both populations sweat sodium increased with age up to 12 years, and did not change significantly thereafter. The age-related increase was significantly less in the cystic fibrosis group. Sweat chloride increased with age in normal, but not in cystic fibrosis children. After age 12 years there was no age-related change in the normal group, and a fall with age in the cystic fibrosis group. Sweat chloride provided the best discrimination between normal and cystic fibrosis populations and this was particularly important in older subjects. Combining sweat sodium and chloride results did not improve discrimination. Nine patients were identified with equivocal sweat chloride results. DNA studies showed six of these subjects were heterozygous for the ΔF508 mutation in the cystic fibrosis gene. Clinical assessment did not always resolve cases with borderline sweat chloride results.

scholarly journals Erratum to: Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

2017 ◽  
Vol 12 (1) ◽  
Author(s):  
Alethéa Guimarães Faria ◽  
Fernando Augusto Lima Marson ◽  
Carla Cristina de Souza Gomez ◽  
Maria Ângela Gonçalves de Oliveira Ribeiro ◽  
Lucas Brioschi Morais ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sweat Test ◽  
Diagnostic Parameter ◽  
Sweat Chloride ◽  
The Right ◽  
Sweat Sodium

USE OF DNA MARKERS LINKED TO CYSTIC FIBROSIS GENE TO RESOLVE EQUIVOCAL SWEAT TEST RESULTS

The Lancet ◽  
1987 ◽  
Vol 330 (8551) ◽  
pp. 155-156 ◽  
Author(s):  
M.A. Patton ◽  
Ann Harris ◽  
Carolyn Quinlan ◽  
R. Newton
Keyword(s):  
Cystic Fibrosis ◽  
Dna Markers ◽  
Cystic Fibrosis Gene ◽  
Sweat Test ◽  
Test Results

scholarly journals Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
Alethéa Guimarães Faria ◽  
Fernando Augusto Lima Marson ◽  
Carla Cristina de Souza Gomez ◽  
Maria Ângela Gonçalves de Oliveira Ribeiro ◽  
Lucas Brioschi Morais ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sweat Test ◽  
Diagnostic Parameter ◽  
Sweat Chloride ◽  
The Right ◽  
Sweat Sodium

scholarly journals A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report

2021 ◽  
Vol 36 (2) ◽  
pp. e243-e243
Author(s):  
Said Al Balushi ◽  
Younis Al Balushi ◽  
Moza Al Busaidi ◽  
Latifa Al Mutawa
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Digestive System ◽  
The Body ◽  
Cystic Fibrosis Gene ◽  
Cftr Gene ◽  
Sweat Test ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported C.4242+1G>C novel gene mutation. Both parents were found to be heterozygous for this mutation. This case sheds light on the importance of the extensive genetic testing of typical CF cases in the absence of family history or during neonatal presentations, especially when the sweat test cannot be performed and the diagnosis can be challenging.

scholarly journals Revisiting sweat chloride test results based on recent guidelines for diagnosis of cystic fibrosis

2018 ◽  
Vol 10 ◽  
pp. 34-37 ◽  
Author(s):  
Jayson V. Pagaduan ◽  
Mahesheema Ali ◽  
Michael Dowlin ◽  
Liye Suo ◽  
Tabitha Ward ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Test Results ◽  
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.

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.

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 newborn screening: outcome of infants with normal sweat tests

2017 ◽  
Vol 103 (8) ◽  
pp. 753-756 ◽  
Author(s):  
Claire Edmondson ◽  
Christopher Grime ◽  
Ammani Prasad ◽  
Jacqui Cowlard ◽  
Chinedu E C Nwokoro ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Genome Sequencing ◽  
Dna Analysis ◽  
Gene Mutations ◽  
High Serum ◽  
Sweat Test ◽  
Sweat Chloride ◽  
South East England

Newborn babies positively screened for cystic fibrosis (CF) (high serum immunoreactive trypsin (IRT) with DNA analysis) are referred for a diagnostic sweat test, which may be normal (sweat chloride <30 mmol/L). Unless two gene mutations are identified during Newborn screening (NBS), the babies are discharged from follow-up. We wished to check that none had subsequently developed symptoms suggestive of CF. We retrospectively reviewed patient notes and contacted general practitioners of all babies with a negative sweat test, conducted in one of the four paediatric specialist CF centres in London, over the first 6 years of screening in South East England.Of 511 babies referred, 95 (19%) had a normal sweat test. Five (5%) had CF diagnosed genetically, two of them on extended genome sequencing after clinical suspicion. Eleven (12%) were designated as CF screen positive inconclusive diagnosis (CFSPID); one of the five CF children was originally designated as CFSPID. Seventy-nine (83%) were assumed to be false-positive cases and discharged; follow-up data were available for 51/79 (65%); 32/51 (63%) had no health issues, 19/51 (37%) had other significant non-CF pathology.These results are reassuring in that within the limitations of those lost to follow-up, CF symptoms have not emerged in the discharged children. The high non-CF morbidity in these children may relate to known causes of high IRT at birth. Clinicians need to be aware that a child can have CF despite a normal sweat test following NBS, and if symptoms suggest the diagnosis, further testing, including extended genome sequencing, is required.

Letter to the Editor

PEDIATRICS ◽  
1969 ◽  
Vol 44 (5) ◽  
pp. 773-773
Author(s):  
Aubrey Milunsky
Keyword(s):  
Cystic Fibrosis ◽  
Italian Text ◽  
Sweat Test ◽  
Test Results ◽  
The Poor ◽  
Letter To The Editor

I would like to thank Dr. Rovescalli for pointing out the four or five lines in his Italian text on mongolism in which he mentions patients with mongolism and cystic fibrosis. Unfortunately, no evidence for the diagnosis of cystic fibrosis is provided (e.g. sweat test results). The poor reproduction of the adjoining slide of the pancreas leaves the point further unresolved, since in this disorder the pancreas may appear entirely normal on microscopy in the early weeks of life.

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