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Elevated sweat chloride

MedGen UID:
347278
Concept ID:
C1856646
Finding
Synonyms: Elevated sweat Cl; Elevated sweat Cl-
 
HPO: HP:0012236

Definition

An increased concentration of chloride in the sweat. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated sweat chloride

Conditions with this feature

Cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
Fucosidosis
MedGen UID:
5288
Concept ID:
C0016788
Disease or Syndrome
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).
Isolated hyperchlorhidrosis
MedGen UID:
333560
Concept ID:
C1840437
Finding
Isolated hyperchlorhidrosis (HYCHL) is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).
Bronchiectasis with or without elevated sweat chloride 1
MedGen UID:
440868
Concept ID:
C2749757
Disease or Syndrome
Bronchiectasis with or without elevated sweat chloride-1 (BESC1) is characterized by dilation of the airways arising from chronic bronchial inflammation accompanied by chronic cough, purulent sputum, and recurrent respiratory tract infections. Severity is variable, and some patients may be identified in adulthood and have normal respiratory function (Sheridan et al., 2005, Fajac et al., 2008). Genetic Heterogeneity of Bronchiectasis with or without Elevated Sweat Chloride Bronchiectasis with or without elevated sweat chloride-2 (BESC2; 613021) is caused by mutation in the gene encoding the alpha subunit of the epithelial sodium channel (SCNN1A; 600228) on chromosome 12p13, and BESC3 (613071) is caused by mutation in the gene encoding the gamma subunit (SCNN1G; 600761) on chromosome 16p12. Bronchiectasis and elevated sweat chloride associated with pancreatic exocrine dysfunction and infertility are also features of cystic fibrosis (CF; 219700), which is caused by mutation in the CFTR gene (602421).
Bronchiectasis with or without elevated sweat chloride 2
MedGen UID:
414437
Concept ID:
C2751666
Disease or Syndrome
Patients with bronchiectasis with or without elevated sweat chloride-2 (BESC2) have bronchiectasis and chronic bronchitis of varying severity. Pancreatic insufficiency may be present (Azad et al., 2009). For discussion of genetic heterogeneity in bronchiectasis with or without elevated sweat chloride, see BESC1 (211400).
Pancreatic triacylglycerol lipase deficiency
MedGen UID:
482157
Concept ID:
C3280527
Disease or Syndrome
Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).
Primary ciliary dyskinesia 29
MedGen UID:
862971
Concept ID:
C4014534
Disease or Syndrome
Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
MedGen UID:
1824079
Concept ID:
C5774306
Disease or Syndrome
Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis (CF; 219700), these patients have normal sweat chloride and pancreatic elastase tests (Bertoli-Avella et al., 2022).

Professional guidelines

PubMed

Schram CA
Can Fam Physician 2012 Dec;58(12):1341-5, e699-704. PMID: 23242890Free PMC Article
Mickle JE, Cutting GR
Med Clin North Am 2000 May;84(3):597-607. doi: 10.1016/s0025-7125(05)70243-1. PMID: 10872417
Rosenstein BJ, Cutting GR
J Pediatr 1998 Apr;132(4):589-95. doi: 10.1016/s0022-3476(98)70344-0. PMID: 9580754

Recent clinical studies

Etiology

Ratkiewicz M, Pastore M, McCoy KS, Thompson R, Hayes D Jr, Sheikh SI
World J Pediatr 2017 Apr;13(2):129-135. Epub 2017 Feb 15 doi: 10.1007/s12519-017-0015-8. PMID: 28194692
Wells JM, Farris RF, Gosdin TA, Dransfield MT, Wood ME, Bell SC, Rowe SM
Lancet Respir Med 2016 Aug;4(8):636-645. Epub 2016 Jun 10 doi: 10.1016/S2213-2600(16)30105-9. PMID: 27298019Free PMC Article
Bagheri-Behrouzi A, Steiß JO, Zimmer KP, Nährlich L
Klin Padiatr 2015 Mar;227(2):96-7. Epub 2015 Mar 9 doi: 10.1055/s-0034-1396821. PMID: 25751685
Naruse S, Ishiguro H, Suzuki Y, Fujiki K, Ko SB, Mizuno N, Takemura T, Yamamoto A, Yoshikawa T, Jin C, Suzuki R, Kitagawa M, Tsuda T, Kondo T, Hayakawa T
Pancreas 2004 Apr;28(3):e80-5. doi: 10.1097/00006676-200404000-00029. PMID: 15084988
Ashavaid TF, Dherai AJ, Kondkar AA, Raghavan R, Udani SV, Udwadia ZF, Desai D
J Assoc Physicians India 2003 Apr;51:345-8. PMID: 12723646

Diagnosis

Mathiaparanam S, de Macedo AN, Gill B, Keenan K, Gonska T, Pedder L, Hill S, Britz-McKibbin P
J Cyst Fibros 2023 Jan;22(1):66-72. Epub 2022 May 14 doi: 10.1016/j.jcf.2022.05.004. PMID: 35577746
Cimbalo C, Tosco A, Terlizzi V, Sepe A, Castaldo A, Salvadori L, Raia V
Ital J Pediatr 2021 May 14;47(1):112. doi: 10.1186/s13052-021-01060-1. PMID: 33990208Free PMC Article
Pagin A, Sermet-Gaudelus I, Burgel PR
Arch Pediatr 2020 Feb;27 Suppl 1:eS25-eS29. doi: 10.1016/S0929-693X(20)30047-6. PMID: 32172933
Goetz D, Ren CL
Pediatr Ann 2019 Apr 1;48(4):e154-e161. doi: 10.3928/19382359-20190327-01. PMID: 30986316
Sangiuolo F, D'Apice MR, Bruscia E, Lucidi V, Novelli G
Pharmacogenomics 2002 Jan;3(1):75-87. doi: 10.1517/14622416.3.1.75. PMID: 11966405

Therapy

Raraigh KS, Paul KC, Goralski JL, Worthington EN, Faino AV, Sciortino S, Wang Y, Aksit MA, Ling H, Osorio DL, Onchiri FM, Patel SU, Merlo CA, Montemayor K, Gibson RL, West NE, Thakerar A, Bridges RJ, Sheppard DN, Sharma N, Cutting GR
JCI Insight 2022 Mar 22;7(6) doi: 10.1172/jci.insight.148841. PMID: 35315358Free PMC Article
Lommatzsch ST, Taylor-Cousar JL
Ther Adv Respir Dis 2019 Jan-Dec;13:1753466619844424. doi: 10.1177/1753466619844424. PMID: 31027466Free PMC Article
Raju SV, Jackson PL, Courville CA, McNicholas CM, Sloane PA, Sabbatini G, Tidwell S, Tang LP, Liu B, Fortenberry JA, Jones CW, Boydston JA, Clancy JP, Bowen LE, Accurso FJ, Blalock JE, Dransfield MT, Rowe SM
Am J Respir Crit Care Med 2013 Dec 1;188(11):1321-30. doi: 10.1164/rccm.201304-0733OC. PMID: 24040746Free PMC Article
Guglani L, Sitwat B, Lower D, Kurland G, Weiner DJ
Pediatr Pulmonol 2012 May;47(5):429-33. Epub 2011 Nov 11 doi: 10.1002/ppul.21563. PMID: 22081517
Sears EH, Gartman EJ, Casserly BP
Rev Recent Clin Trials 2011 May;6(2):94-107. doi: 10.2174/157488711795177859. PMID: 21241236

Prognosis

Wells JM, Farris RF, Gosdin TA, Dransfield MT, Wood ME, Bell SC, Rowe SM
Lancet Respir Med 2016 Aug;4(8):636-645. Epub 2016 Jun 10 doi: 10.1016/S2213-2600(16)30105-9. PMID: 27298019Free PMC Article
Boyle MP
JAMA 2007 Oct 17;298(15):1787-93. doi: 10.1001/jama.298.15.1787. PMID: 17940235
Ashavaid TF, Dherai AJ, Kondkar AA, Raghavan R, Udani SV, Udwadia ZF, Desai D
J Assoc Physicians India 2003 Apr;51:345-8. PMID: 12723646
Mickle JE, Cutting GR
Med Clin North Am 2000 May;84(3):597-607. doi: 10.1016/s0025-7125(05)70243-1. PMID: 10872417
Pillion DJ, Meezan E
Miner Electrolyte Metab 1987;13(3):196-200. PMID: 3627050

Clinical prediction guides

Wells JM, Farris RF, Gosdin TA, Dransfield MT, Wood ME, Bell SC, Rowe SM
Lancet Respir Med 2016 Aug;4(8):636-645. Epub 2016 Jun 10 doi: 10.1016/S2213-2600(16)30105-9. PMID: 27298019Free PMC Article
Boyle MP
JAMA 2007 Oct 17;298(15):1787-93. doi: 10.1001/jama.298.15.1787. PMID: 17940235
Mickle JE, Cutting GR
Med Clin North Am 2000 May;84(3):597-607. doi: 10.1016/s0025-7125(05)70243-1. PMID: 10872417
Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M
Hum Genet 1997 Sep;100(3-4):365-77. doi: 10.1007/s004390050518. PMID: 9272157
Pillion DJ, Meezan E
Miner Electrolyte Metab 1987;13(3):196-200. PMID: 3627050

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