BIOMAT Database Logo BIOMAT Database Logo

Normal sweat chloride test does not rule out cystic fibrosis. 2017

Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Division of Pediatric Pulmonology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.

Başaran AE, Karataş-Torun N, Maslak İC, Bingöl A, Alper ÖM. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59: 68-70. A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492.2) genotyping results were positive for p.E92K; p.F1052V mutations. The patient was diagnosed with cystic fibrosis. In our patient, with features of CF and normal sweat test, mutation analysis was helpful for the diagnosis of cystic fibrosis.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002712 Chlorides Inorganic compounds derived from hydrochloric acid that contain the Cl- ion. Chloride,Chloride Ion Level,Ion Level, Chloride,Level, Chloride Ion
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013542 Sweat The fluid excreted by the SWEAT GLANDS. It consists of water containing sodium chloride, phosphate, urea, ammonia, and other waste products. Sweats
D019005 Cystic Fibrosis Transmembrane Conductance Regulator A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8) CFTR Protein,Chloride channels, ATP-gated CFTR,Chloride channels, ATP gated CFTR,Protein, CFTR

Related Publications

Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
[A normal sweat test does not exclude the diagnosis of cystic fibrosis].
June 2000, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Cystic fibrosis, Young's syndrome, and normal sweat chloride.
July 1998, Lancet (London, England),
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis.
November 1995, American journal of respiratory and critical care medicine,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis.
March 1995, American journal of respiratory and critical care medicine,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Elevated sweat chloride test: is it always cystic fibrosis?
May 2021, Italian journal of pediatrics,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis.
June 2000, Archives of disease in childhood,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Cystic fibrosis with normal sweat chloride concentration--case report.
January 2003, Revista do Hospital das Clinicas,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
[Cystic fibrosis and normal sweat chloride values: a case-report].
September 2001, Revue des maladies respiratoires,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
Chloride measurement by microelectrode in cystic fibrosis and normal sweat.
January 1987, Mineral and electrolyte metabolism,
Abdurrahman Erdem Başaran, and Nimet Karataş-Torun, and İbrahim Cemal Maslak, and Ayşen Bingöl, and Özgül M Alper
[Diagnosis of cystic fibrosis; simple genotyping to rule out the disease preferable to starting with the sweat test].
May 2003, Nederlands tijdschrift voor geneeskunde,
Copied contents to your clipboard!