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

ABSTRACT:

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/

SUBMITTER: Oppelaar JJ 

PROVIDER: S-EPMC8591465 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature