Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses

Summary: Background: Hereditary Multiple Exostoses (HME) is a rare autosomal disorder characterized by the presence of multiple exostoses (osteochondromas) caused by a heterozygous loss of function mutation in EXT1 or EXT2; genes involved in heparan sulfate (HS) chain elongation. Considering that H...

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Autores principales:	Jetta J. Oppelaar, Nienke M.G. Rorije, Rik H.G. Olde Engberink, Youssef Chahid, Naomi van Vlies, Hein J. Verberne, Bert-Jan H. van den Born, Liffert Vogt
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Sodium Glycosaminoglycans Heparan sulfate Hereditary Multiple Exostoses Water balance Osmoregulation Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/1b5e608388c14cb5bbc53ed9c120bcdb
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spelling	oai:doaj.org-article:1b5e608388c14cb5bbc53ed9c120bcdb2021-11-10T04:26:53ZPerturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses2214-426910.1016/j.ymgmr.2021.100797https://doaj.org/article/1b5e608388c14cb5bbc53ed9c120bcdb2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2214426921000914https://doaj.org/toc/2214-4269Summary: Background: Hereditary Multiple Exostoses (HME) is a rare autosomal disorder characterized by the presence of multiple exostoses (osteochondromas) caused by a heterozygous loss of function mutation in EXT1 or EXT2; genes involved in heparan sulfate (HS) chain elongation. Considering that HS and other glycosaminoglycans play an important role in sodium and water homeostasis, we hypothesized that HME patients have perturbed whole body volume regulation and osmolality in response to high sodium conditions. Methods: We performed a randomized cross-over study in 7 male HME patients and 12 healthy controls, matched for age, BMI, blood pressure and renal function. All subjects followed both an 8-day low sodium diet (LSD, <50 mmol/d) and high sodium diet (HSD, >200 mmol/d) in randomized order. After each diet, blood and urine samples were collected. Body fluid compartment measurements were performed by using the distribution curve of iohexol and 125I-albumin. Results: In HME patients, HSD resulted in significant increase of intracellular fluid volume (ICFV) (1.2 L, p = 0.01). In this group, solute-mediated water clearance was significantly lower after HSD, and no changes in interstitial fluid volume (IFV), plasma sodium, and effective osmolality were observed. In healthy controls, HSD did not influence ICFV, but expanded IFV (1.8 L, p = 0.058) and increased plasma sodium and effective osmolality. Conclusion: HME patients show altered body fluid distribution and osmoregulation after HSD compared to controls. Our results might indicate reduced interstitial sodium accumulation capacity in HME, leading to ICFV increase. Therefore, this study provides additional support that HS is crucial for maintaining constancy of the internal environment.Jetta J. OppelaarNienke M.G. RorijeRik H.G. Olde EngberinkYoussef ChahidNaomi van VliesHein J. VerberneBert-Jan H. van den BornLiffert VogtElsevierarticleSodiumGlycosaminoglycansHeparan sulfateHereditary Multiple ExostosesWater balanceOsmoregulationMedicine (General)R5-920Biology (General)QH301-705.5ENMolecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100797- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Sodium Glycosaminoglycans Heparan sulfate Hereditary Multiple Exostoses Water balance Osmoregulation Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	Sodium Glycosaminoglycans Heparan sulfate Hereditary Multiple Exostoses Water balance Osmoregulation Medicine (General) R5-920 Biology (General) QH301-705.5 Jetta J. Oppelaar Nienke M.G. Rorije Rik H.G. Olde Engberink Youssef Chahid Naomi van Vlies Hein J. Verberne Bert-Jan H. van den Born Liffert Vogt Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
description	Summary: Background: Hereditary Multiple Exostoses (HME) is a rare autosomal disorder characterized by the presence of multiple exostoses (osteochondromas) caused by a heterozygous loss of function mutation in EXT1 or EXT2; genes involved in heparan sulfate (HS) chain elongation. Considering that HS and other glycosaminoglycans play an important role in sodium and water homeostasis, we hypothesized that HME patients have perturbed whole body volume regulation and osmolality in response to high sodium conditions. Methods: We performed a randomized cross-over study in 7 male HME patients and 12 healthy controls, matched for age, BMI, blood pressure and renal function. All subjects followed both an 8-day low sodium diet (LSD, <50 mmol/d) and high sodium diet (HSD, >200 mmol/d) in randomized order. After each diet, blood and urine samples were collected. Body fluid compartment measurements were performed by using the distribution curve of iohexol and 125I-albumin. Results: In HME patients, HSD resulted in significant increase of intracellular fluid volume (ICFV) (1.2 L, p = 0.01). In this group, solute-mediated water clearance was significantly lower after HSD, and no changes in interstitial fluid volume (IFV), plasma sodium, and effective osmolality were observed. In healthy controls, HSD did not influence ICFV, but expanded IFV (1.8 L, p = 0.058) and increased plasma sodium and effective osmolality. Conclusion: HME patients show altered body fluid distribution and osmoregulation after HSD compared to controls. Our results might indicate reduced interstitial sodium accumulation capacity in HME, leading to ICFV increase. Therefore, this study provides additional support that HS is crucial for maintaining constancy of the internal environment.
format	article
author	Jetta J. Oppelaar Nienke M.G. Rorije Rik H.G. Olde Engberink Youssef Chahid Naomi van Vlies Hein J. Verberne Bert-Jan H. van den Born Liffert Vogt
author_facet	Jetta J. Oppelaar Nienke M.G. Rorije Rik H.G. Olde Engberink Youssef Chahid Naomi van Vlies Hein J. Verberne Bert-Jan H. van den Born Liffert Vogt
author_sort	Jetta J. Oppelaar
title	Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
title_short	Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
title_full	Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
title_fullStr	Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
title_full_unstemmed	Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
title_sort	perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/1b5e608388c14cb5bbc53ed9c120bcdb
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Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses

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