TY - JOUR
T1 - Kidney and vascular function in adult patients with hereditary fructose intolerance
AU - Simons, Nynke
AU - Debray, Francois-Guillaume
AU - Schaper, Nicolaas C.
AU - Feskens, Edith J. M.
AU - Hollak, Carla E. M.
AU - Bons, Judith A. P.
AU - Bierau, Jorgen
AU - Houben, Alfons J. H. M.
AU - Schalkwijk, Casper G.
AU - Stehouwer, Coen D. A.
AU - Cassiman, David
AU - Brouwers, Martijn C. G. J.
N1 - Funding Information:
This study was supported by research grants from Stofwisselkracht and the Dutch Heart Foundation (grant 2015T042 ). The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors. The authors have declared that no conflicts of interests exist.
Funding Information:
We thank Anne-Sophie Warda (Department of Internal Medicine, Kreisklinik Trostberg, Trostberg, Germany) and Katrien Gaens (Department of Internal Medicine, Maastricht University Medical Center, Maastricht, The Netherlands) for their assistance during the execution of the study. D.C. is a fundamental-clinical researcher at FWO-Vlaanderen. This study was supported by research grants from Stofwisselkracht and the Dutch Heart Foundation (grant 2015T042). The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors. The authors have declared that no conflicts of interests exist.
Publisher Copyright:
© 2020 The Authors
PY - 2020/6
Y1 - 2020/6
N2 - Objective: Previous studies have shown that patients with hereditary fructose intolerance (HFI) are characterized by a greater intrahepatic triglyceride content, despite a fructose-restricted diet. The present study aimed to examine the long-term consequences of HFI on other aldolase-B-expressing organs, i.e. the kidney and vascular endothelium. Methods: Fifteen adult HFI patients were compared to healthy control individuals matched for age, sex and body mass index. Aortic stiffness was assessed by carotid-femoral pulse wave velocity (cf-PWV) and endothelial function by peripheral arterial tonometry, skin laser doppler flowmetry and the endothelial function biomarkers soluble E-selectin [sE-selectin] and von Willebrand factor. Serum creatinine and cystatin C were measured to estimate the glomerular filtration rate (eGFR). Urinary glucose and amino acid excretion and the ratio of tubular maximum reabsorption of phosphate to GFR (TmP/GFR) were determined as measures of proximal tubular function. Results: Median systolic blood pressure was significantly higher in HFI patients (127 versus 122 mmHg, p = .045). Pulse pressure and cf-PWV did not differ between the groups (p = .37 and p = .49, respectively). Of all endothelial function markers, only sE-selectin was significantly higher in HFI patients (p = .004). eGFR was significantly higher in HFI patients than healthy controls (119 versus 104 ml/min/1.73m2, p = .001, respectively). All measurements of proximal tubular function did not differ significantly between the groups. Conclusions: Adult HFI patients treated with a fructose-restricted diet are characterized by a higher sE-selectin level and slightly higher systolic blood pressure, which in time could contribute to a greater cardiovascular risk. The exact cause and, hence, clinical consequences of the higher eGFR in HFI patients, deserves further study.© 2020 The Authors.
AB - Objective: Previous studies have shown that patients with hereditary fructose intolerance (HFI) are characterized by a greater intrahepatic triglyceride content, despite a fructose-restricted diet. The present study aimed to examine the long-term consequences of HFI on other aldolase-B-expressing organs, i.e. the kidney and vascular endothelium. Methods: Fifteen adult HFI patients were compared to healthy control individuals matched for age, sex and body mass index. Aortic stiffness was assessed by carotid-femoral pulse wave velocity (cf-PWV) and endothelial function by peripheral arterial tonometry, skin laser doppler flowmetry and the endothelial function biomarkers soluble E-selectin [sE-selectin] and von Willebrand factor. Serum creatinine and cystatin C were measured to estimate the glomerular filtration rate (eGFR). Urinary glucose and amino acid excretion and the ratio of tubular maximum reabsorption of phosphate to GFR (TmP/GFR) were determined as measures of proximal tubular function. Results: Median systolic blood pressure was significantly higher in HFI patients (127 versus 122 mmHg, p = .045). Pulse pressure and cf-PWV did not differ between the groups (p = .37 and p = .49, respectively). Of all endothelial function markers, only sE-selectin was significantly higher in HFI patients (p = .004). eGFR was significantly higher in HFI patients than healthy controls (119 versus 104 ml/min/1.73m2, p = .001, respectively). All measurements of proximal tubular function did not differ significantly between the groups. Conclusions: Adult HFI patients treated with a fructose-restricted diet are characterized by a higher sE-selectin level and slightly higher systolic blood pressure, which in time could contribute to a greater cardiovascular risk. The exact cause and, hence, clinical consequences of the higher eGFR in HFI patients, deserves further study.© 2020 The Authors.
KW - SERUM CYSTATIN C
KW - GLOMERULAR HYPERFILTRATION
KW - MICROVASCULAR DYSFUNCTION
KW - ARTERIAL STIFFNESS
KW - DIETARY-SODIUM
KW - BLOOD-PRESSURE
KW - UP-REGULATION
KW - BODY-FLUIDS
KW - ALDOLASE-B
KW - DIAGNOSIS
U2 - 10.1016/j.ymgmr.2020.100600
DO - 10.1016/j.ymgmr.2020.100600
M3 - Article
C2 - 32426234
SN - 2214-4269
VL - 23
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
M1 - 100600
ER -