Elevated Sweat Sodium Research Articles

The Need for Salt

Salt replacement is often recommended to prevent exercise-associated hyponatremia (EAH) despite a lack of evidence to support such practice. Exercise-associated hyponatremia is known to be a complex process resulting from the interplay of hydration, arginine vasopressin, and sodium balance. Although evidence suggests overhydration is the dominant pathophysiologic factor in most cases, the contributions of sweat sodium losses remain unclear. A theoretical genetic mechanism producing exuberant sweat sodium loss in athletes is the presence of cystic fibrosis (CF) gene. Individuals with CF develop hypovolemic hyponatremia by sodium loss via sweat through a defective chloride ion transport channel, the CF transmembrane conductance regulator (CFTR). Elevated sweat sodium concentrations in CF single heterozygotes suggest that athletes developing EAH may be CFTR carriers. We targeted the 2010 and 2011 Western States Endurance Run ultramarathon, an event where athletes with EAH regularly present in a hypovolemic state, for a cohort maximizing the potential to document such a relationship. A total of 798 runners started the 2010 (n = 423) and 2011 (n = 375) races. Of the 638 finishers, 373 were screened for EAH by blood draw, 60 (16%) were found to have EAH, and 31 (alpha = 0.05 for n = 9) reported their CF result from a saliva-based genetic testing kit. Neither the 31 EAH-positive athletes nor the 25 EAH-negative comparison cohort athletes tested positive for a CF mutation. This null relationship suggests that CFTR mutations are not associated with the development of EAH and that salt supplementation is unnecessary for such a reason.

389 Prolonged Clostridium difficile associated diarrhoea in a cystic fibrosis patient precluding suitability for lung transplant: an important issue for patients awaiting transplantation

Background: At present more than 1800 mutations have been described in the CFTR-gene. Several rare mutations are believed to cause mild lung disease and late onset of symptoms. We present a 5 y old Belgian boy heterozygous for an atypical CFTR variant and a novel variant which was never described before. Case report: A 5 y old boy with recurrent bronchitis and chronic sinusitis was referred to our clinic with repeated abnormal sweat chloride (Cl) (right 70mEq/L; left 53mEq/L) and elevated sweat sodium values (right 86mEq/L; left 62mEq/L), performed by Gibson and Cooke gauze method. Chest CT scan showed bronchial wall thickening and mucous plugging, without bronchiectasis. He is pancreatic sufficient, without history of pancreatitis. By screening the coding region of CFTR, using sequencing and MLPA (Multiplex Ligation-dependent Probe Amplification), he was shown to be heterozygous for c.224G>A (p.Arg75Gln − legacy name: R75Q) and c.122C>G (p.Pro41Arg), a novel variant which was never described before. Analysis of the parents is ongoing to prove that both variants are on different alleles. Discussion: R75Q is described as a variant overrepresented in patients with atypical CF, sarcoidosis, COPD and chronic pancreatitis and rather influences bicarbonate conductance than Cl. Our young patient has already respiratory symptoms and abnormal sweat chloride values. To our knowledge CFTR p.Pro41Arg has never been described before and its clinical relevance is not clear. As this boy has signs and symptoms of CF disease in combination with an atypical CFTR mutation, this novel mutation might be involved. However, mutations outside the coding region cannot be excluded.

388 Detection of a novel CFTR mutation c.122C>G (p.Pro41Arg) in a young cystic fibrosis (CF) patient with recurrent respiratory symptoms

Background: At present more than 1800 mutations have been described in the CFTR-gene. Several rare mutations are believed to cause mild lung disease and late onset of symptoms. We present a 5 y old Belgian boy heterozygous for an atypical CFTR variant and a novel variant which was never described before. Case report: A 5 y old boy with recurrent bronchitis and chronic sinusitis was referred to our clinic with repeated abnormal sweat chloride (Cl) (right 70mEq/L; left 53mEq/L) and elevated sweat sodium values (right 86mEq/L; left 62mEq/L), performed by Gibson and Cooke gauze method. Chest CT scan showed bronchial wall thickening and mucous plugging, without bronchiectasis. He is pancreatic sufficient, without history of pancreatitis. By screening the coding region of CFTR, using sequencing and MLPA (Multiplex Ligation-dependent Probe Amplification), he was shown to be heterozygous for c.224G>A (p.Arg75Gln − legacy name: R75Q) and c.122C>G (p.Pro41Arg), a novel variant which was never described before. Analysis of the parents is ongoing to prove that both variants are on different alleles. Discussion: R75Q is described as a variant overrepresented in patients with atypical CF, sarcoidosis, COPD and chronic pancreatitis and rather influences bicarbonate conductance than Cl. Our young patient has already respiratory symptoms and abnormal sweat chloride values. To our knowledge CFTR p.Pro41Arg has never been described before and its clinical relevance is not clear. As this boy has signs and symptoms of CF disease in combination with an atypical CFTR mutation, this novel mutation might be involved. However, mutations outside the coding region cannot be excluded.

912 CILIARY MORPHOLOGY AND CARDIAC MALROTATION

Kartagener's syndrome [situs inversus totalis (SIT), bronchiectasis and sinusitis] has been shown by others to have morphologically abnormal sperm tails and cilia, evidenced by absence of dynein arms. We used brush biopsies of the nasopharynx under local anesthesia for the study of ciliary morphology by EM in 9 patients with dextrocardia. Three of these have SIT and recurrent respiratory disease. One SIT lacks dynein arms and is a typical Kartagener's syndrome. A second SIT has abnormal (thickened and knobby) outer dynein arms in all cilia. This may be a new type of Kartagener's syndrome. The third SIT has normal dynein arms and some features of cystic fibrosis (CF), with intermittently elevated sweat sodium. The cultured fibroblasts of this patient do not show a CF-like response to ouabain, suggesting that this may not be CF. Of the 6 dextrocardiacs without SIT, all have normal dynein arms except one. In this patient (with L-TGA and without respiratory disease), the outer dynein arms are abnormally positioned in all cilia. We propose that dynein arm abnormalities may be an etiologic factor in a significant fraction of cardiac malrotations.

Sweat electrolytes in chronic pancreatitis.

Sweat electrolytes were carried out in 84 adult patients with calcific pancreatitis, 51 with noncalcific pancreatitis, and the results compared to 37 adult controls. Of the patients with calcific pancreatitis, 33.5% had sweat sodium levels greater than 90 mEq/liter and 14.4% a level greater that 120 mEq/liter. Patients with noncalcific pancreatitis also had a high incidence of elevated sweat sodium levels. Sweat potassium levels were less discriminating, and there appeared to be high sweat calcium levels in a few patients so tested. The reasons for the elevated sweat sodium levels in pancreatitis is not readily apparent, and the possible relationship to heterozygous forms of cystic fibrosis is discussed.

FAMILIAL C4 DEFICIENCY WITH PROLIFERATIVE GLOMERULONEPHRITIS AND ELEVATED SWEAT ELECTROLYTE CONCENTRATIONS

Within a sibship of 5 having elevated sweat sodium (65-108 mEq/L) and chloride (33-84 mEq/L) concentrations, an 11 year old boy was found to have erythrocyte casts, proteinuria, hypertension, and isolated C4 deficiency. He has no skin rashes, angioedema or evidence of SLE Renal biopsy revealed diffuse mesangial hypercellularity and focal capillary wall thickening; immunofluorescent studies demonstrated mesangial and peripheral C3 deposition but no C4, IgG, IgM or IgAC4 was extremely low by functional (<0.1% normal) and immunochemical (42 μg/ml) assays; CH50 < 5U/ml. All other complement components of the classical and alternate pathway were normal by immunochemical and functional assays. Preliminary family studies indicate that the C4 deficiency was inherited as an autosomal recessive trait and was carried on the HLA-Al, B8 (Maternal) and HLA-A2, B5 (Paternal) haplotypes. Further study of the linkage of this deficiency to other HLA loci (HLA-D and B cell alloantigens) and sweat chloride levels is in progress.

Recurrent Acute Pancreatitis in Patients With Cystic Fibrosis With Normal Pancreatic Enzymes

Ten adolescent and young adults with cystic fibrosis (CF) have had well-documented recurrent attacks of acute pancreatitis. The diagnosis of CF in each patient was delayed because they did not have pancreatic insufficiency. The diagnosis of CF was documented by the typical pulmonary involvement and elevated sweat sodium and chloride levels in all cases and a positive family history in six of the ten patients. Two patients were diagnosed as having acute pancreatitis before the diagnosis of CF was made, thus indicating that acute pancreatitis may be the presenting complaint in the young adult with CF. The diagnosis of acute pancreatitis was based on the presence of severe abdominal pain, usually with vomiting, tenderness in the mid-epigastrium, elevated serum and urinary amylase and serum lipase. Attacks were precipitated by fatty meals, alcohol ingestion; postcholecystectomy and tetracycline administration. In some patients no precipitating event could be elicited. Intravenous secretin-pancreozymin stimulation tests revealed a diminished bicarbonate secretion with little effect on the secretion of the zymogen enzymes. A mild attack of pancreatitis occurred after secretin-pancreozymin stimulation. The endocrine pancreatic function tested in four patients was normal as revealed by the glucose tolerance tests and determinations of serum insulin, growth hormone and free fatty acid. Transduodenal pancreatograms were performed in three patients; one showed a normal pancreatic duct, one showed duct obstruction and in the third patient a beady type of narrowing was found. The selenomethionine Se 75 uptake of the pancreas was noted only in the head of the pancreas. This suggests that loss of function occurs initially to a greater extent in the tail and body of the pancreas. Three patients died and showed characteristic lesions of CF.

Impaired renal tubular secretion of potassium, elevated sweat sodium chloride concentration and plasma inhibition of erythrocyte sodium outflux as complications of systemic lupus erythematosus.

A 23-year-old male with systemic lupus erythematosus and hypocomplementemic glomerulonephritis (creatinine clearance 84 ml/min) developed severe hyperkalemia when given a normal sodium and potassium intake. Potassium excretion increased subnormally in response to ammonium chloride, sodium bicarbonate and a sodium-retaining steroid. Renal conservation of sodium and excretion of ammonium were impaired. These observations are consistent with defects in secretion of potassium and hydrogen ion by the distal tubule. Sodium transport by sweat ducts and normal erythrocytes incubated in the patient's plasma was impaired. The several abnormalities in ion transport could have been caused by a circulating substance(s), possibly acquired as a result of systemic lupus erythematosus.

Micropuncture study of the proximal and distal tubule in the dog.

ARTICLESMicropuncture study of the proximal and distal tubule in the dogCM Bennett, Clapp JR, and RW BerlinerCM Bennett, Clapp JR, and RW BerlinerPublished Online:01 Nov 1967https://doi.org/10.1152/ajplegacy.1967.213.5.1254MoreSectionsPDF (2 MB)Download PDF ToolsExport citationAdd to favoritesGet permissionsTrack citations ShareShare onFacebookTwitterLinkedInEmailWeChat Previous Back to Top Next Download PDF FiguresReferencesRelatedInformationCited ByStationary and Nonstationary Ion and Water Flux Interactions in Kidney Proximal Tubule: Mathematical Analysis of Isosmotic Transport by a Minimalistic Model24 May 2019Osmoregulation and epithelial water transport: lessons from the intestine of marine teleost fish7 July 2011 | Journal of Comparative Physiology B, Vol. 182, No. 1Reversal of trimethoprim-induced antikaliuresisKidney International, Vol. 50, No. 6Clearance Techniques1 January 2011Urinary Concentration and Dilution: Physiology1 January 2011Evaluation of lithium clearance as a marker of proximal tubule sodium handlingKidney International, Vol. 36, No. 1NaCl Transport in the KidneyTribute to Robert BerlinerKidney International, Vol. 31, No. 2Transport Functions of the Distal Convoluted TubuleMicropuncture techniquesKidney International, Vol. 30, No. 2Transport Functions of the Distal Convoluted TubuleMechanism of Concentration and Dilution of UrineTubular Processing of Glomerular Ultrafiltrate: Mechanisms of Electrolyte and Water TransportA search for a defect of proximal transport in denervated kidneys of conscious dogs26 September 2008 | Archives Internationales de Physiologie et de Biochimie, Vol. 89, No. 2Renal response of ethanol-treated dogs to increased filtered loads of sodium, bicarbonate, and chlorideToxicology and Applied Pharmacology, Vol. 51, No. 2Recent formulations of the urinary concentrating mechanism: A status reportKidney International, Vol. 16, No. 5The Proximal NephronTransport Functions of the Distal Convoluted TubuleSites and mechanisms of potassium transport along the renal tubuleKidney International, Vol. 11, No. 6The effect of indomethacin on kidney function: Indomethacin and furosemide antagonismPfl�gers Archiv European Journal of Physiology, Vol. 372, No. 3Studies on the pathophysiology of acute renal failureVirchows Archiv B Cell Pathology, Vol. 22, No. 1Tubular chloride transport and the mode of action of some diureticsKidney International, Vol. 9, No. 2Renal Handling of MagnesiumEffects of Diuretics on Renal Transport of PotassiumIndomethacin Inhibition of Bumetanide Diuresis in Dogs13 March 2009 | Acta Pharmacologica et Toxicologica, Vol. 37, No. 1Reconstitution of Active Transport Catalyzed by the Purified Sodium and Potassium Ion-stimulated Adenosine Triphosphatase from Canine Renal MedullaJournal of Biological Chemistry, Vol. 249, No. 18Influence of furosemide andd-l propranolol on glomerular filtration rate and renin secretion in the ratPfl�gers Archiv European Journal of Physiology, Vol. 346, No. 2The Mathematical Theory of Renal FunctionImpaired renal tubular secretion of potassium, elevated sweat sodium chloride concentration and plasma inhibition of erythrocyte sodium outflux as complications of systemic lupus erythematosusArthritis & Rheumatism, Vol. 15, No. 5Effect of frusemide on the reactivity of rat portal vein12 April 2011 | Journal of Pharmacy and Pharmacology, Vol. 24, No. 6Micropuncture Study of Distal Tubular Function of Cat KidneyJapanese Journal of Pharmacology, Vol. 21, No. 1Transport processes in the renal cortexJournal of Theoretical Biology, Vol. 29, No. 2Effects and Side-Effects of Thiazide DrugsMedical Clinics of North America, Vol. 53, No. 6Hyperkalemia, hypertension and systemic acidosis without renal failure associated with a tubular defect in potassium excretionThe American Journal of Medicine, Vol. 47, No. 3Ethacrynic acid and furosemide: Renal pharmacology and clinical useProgress in Cardiovascular Diseases, Vol. 12, No. 1The Regulation of Distal Tubular Potassium TransportEFFECTS OF &OElig;STROGEN/GONADOTROPHINS TREATMENTThe Lancet, Vol. 292, No. 7575ANAPHYLACTIC SHOCK AFTER INTRAVENOUS GALACTOSEThe Lancet, Vol. 292, No. 7575DISTAL POTASSIUM SECRETION IN MANThe Lancet, Vol. 292, No. 7575 More from this issue > Volume 213Issue 5November 1967Pages 1254-1262 Copyright & PermissionsCopyright © 1967 by American Physiological Societyhttps://doi.org/10.1152/ajplegacy.1967.213.5.1254PubMed6054873History Published online 1 November 1967 Published in print 1 November 1967 Metrics

ELEVATED SWEAT SODIUM AND CHLORIDE IN ADULT WITHOUT CYSTIC FIBROSIS.

Cystic fibrosis of the pancreas is a systemic disease affecting the pancreas, liver, lungs, salivary glands, and sweat glands. Although well recognized in infants and children, it has been infrequently reported in patients beyond the pediatric age group. A number of authors have placed considerable significance on sweat sodium and chloride levels above 60 mEq/liter in the diagnosis of cystic fibrosis in adults. This has been particularly true in attempting to find an underlying etiology for various respiratory diseases. Anderson et al 1 do not believe that sweat sodium and chloride levels in adults can be used to show a significant relationship between various respiratory diseases and cystic fibrosis of the pancreas. The purpose of this paper is to report a patient with heat intolerance, with elevated sweat sodium and chloride levels, without adrenal insufficiency or evidence of cystic fibrosis of the pancreas. Report of a Case An 18-year-old white