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Risch L.,Labormedizinische zentren Dr. Risch | Risch L.,University of Liechtenstein | Risch L.,Innsbruck Medical University | Lhotta K.,Academic Teaching Hospital | And 5 more authors.
Clinical Chemistry and Laboratory Medicine | Year: 2014

Background: In chronic kidney diseases of various etiologies, the urinary excretion of uromodulin is usually decreased in parallel with the glomerular filtration rate. This study aimed to investigate whether serum uromodulin is associated with kidney function. Methods: Within the framework of the Seniorlabor study, a subset of subjectively healthy individuals 60 years of age and older were included in the study. Serum uromodulin was measured with ELISA. The relationship between serum uromodulin and different stages of kidney function (i.e., cystatin C-based 2012-CKD-EPI eGFRCysC>90 mL/min/1.73 m2, 60-89 mL/min/1.73 m2, 45-59 mL/min/1.73 m2, and <45 mL/min/1.73 m2) was investigated. Furthermore, the relationship between serum uromodulin and other markers of kidney function (i.e., creatinine, cystatin C, and urea) was assessed. Results: In total, 289 participants (140 males/149 females; mean age 71±7 years) were included in the study. There were significant differences in serum uromodulin among the four groups according to different kidney function stages (p<0.001). Serum uromodulin displayed inverse relationships with creatinine (r=-0.39), cystatin C (r=-0.42), and urea (r=-0.30) and, correspondingly, a positive relationship with eGFRCysC (r=0.38, p<0.001 for all). These associations remained intact when fitting a regression model that incorporated age, gender, body mass index, and current smoking status as covariates. Conclusions: Serum uromodulin behaves in a manner opposite that of the different conventional renal retention markers by displaying lower concentrations with decreasing kidney function. As uromodulin is produced by the cells of the thick ascending limb of the loop of Henle, lower uromodulin serum levels may reflect a reduction in number or function of these cells in chronic kidney disease. © by De Gruyter 2014.

Moskowitz J.L.,Renal Research Institute | Piret S.E.,University of Oxford | Lhotta K.,University of Oxford | Kitzler T.M.,Vorarlberg Institute for Vascular Investigation and Treatment | And 5 more authors.
Clinical Journal of the American Society of Nephrology | Year: 2013

Background and objectives Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by uromodulin (UMOD) gene mutations. This study explored genotype-phenotype correlations by examining the relationship between the type of UMOD mutation and the age at onset of ESRD. Design, setting, participants& measurements Extensive bibliographic research was used to ascertain patient-level data of all patients with UAKD published up to October 2011. Data included sex; ages at onset of hyperuricemia, gout, and ESRD; andUMOD genotype. Kaplan-Meier analysis and Cox proportional hazards models fitted with shared gamma frailty terms to adjust for within-family correlations were used to model time to event. Results Thirty-one peer-reviewed publications reporting on 202 patients from 74 families with 59 different UMOD mutations were included. Median ages at onset of hyperuricemia, gout, and ESRD were 24, 40, and 56 years, respectively. Men developed gout and ESRD significantly earlier than did women (age at ESRD was 50 years for men and 60 for women; P=0.04, shared frailty model). Median ages at ESRD development were lowest with Cys77Tyr (37.5 years) and highest with Gln316Pro (65.5 years) UMOD mutations. Onset of ESRD was significantly earlier with UMOD mutations located within the epidermal growth factor domains 2 and 3 (range, 45-52 years; P<0.01 and 0.04, respectively) compared with the cysteine-rich domains (range, 60-65 years; by shared frailty model). Conclusions The UMOD genotype is related to the clinical phenotype of UAKD. This finding may assist in counseling of patients. © 2013 by the American Society of Nephrology.

Puig L.,Autonomous University of Barcelona | Strohal R.,Academic Teaching Hospital Feldkirch | Fuiman J.,Pfizer | Pedersen R.,Pfizer | And 6 more authors.
Journal of Dermatological Treatment | Year: 2014

Objective: To assess cardiometabolic biomarkers in patients with psoriasis before and after etanercept treatment. Methods: Patients with moderate-to-severe plaque psoriasis were randomized to etanercept 50mg once or twice weekly, double-blinded. Cardiometabolic biomarkers were assessed at baseline and after 12 weeks of treatment (n=273). Results: At baseline, 42% of patients had metabolic syndrome. Etanercept was not associated with any clinically relevant adverse effects on cardiometabolic biomarkers. In the once-weekly subgroup, significant mean percentage changes from baseline (p<0.05) were observed for the quantitative insulin-sensitivity check index (QUICKI; -2.2%), apolipoprotein (Apo) A1 (3.2%), Apo B:Apo A1 ratio (-3.5%), leptin (8.6%) and high-sensitivity C-reactive protein (hsCRP) (-65.5%); and in the twice-weekly subgroup for plasma insulin (15.9%), QUICKI (-2.7%), high-density lipoprotein cholesterol (HDL-C; 2.9%), apolipoprotein (Apo) A1 (2.8%), Apo B:Apo A1 (-4.6%) and hsCRP (-74.4%). Conclusion: Metabolic syndrome was common in these patients with moderate-to-severe psoriasis. Etanercept treatment may provide some potentially favorable modulation of insulin sensitivity, HDL-C, Apo A1 and Apo B:Apo A1 ratio. © 2014 Informa UK Ltd. All rights reserved.

Meusburger E.,Academic Teaching Hospital Feldkirch | Mundlein A.,Vorarlberg Institute for Vascular Investigation and Treatment | Zitt E.,Academic Teaching Hospital Feldkirch | Zitt E.,Vorarlberg Institute for Vascular Investigation and Treatment | And 4 more authors.
Clinical Kidney Journal | Year: 2013

Idiopathic infantile hypercalcaemia (IIH) is an autosomal recessively inherited disease, presented in the first year of life with hypercalcaemia, precipitated by normal amounts of vitamin D supplementation. Recently loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-metabolizing enzyme 24-hydroxylase, have been found in these patients. We describe a young man homozygous for a novel missense mutation (c.628T>C) of the CYP24A1 gene. He had suffered from severe hypercalcaemia in early childhood. At age 29 he presented with medullary nephrocalcinosis, chronic kidney disease (CKD) stage 2, microalbuminuria, mild hypertension and nephrogenic diabetes insipidus. He had mild hypercalcaemia and moderate hypercalciuria. As a novel finding, fibroblast growth factor 23 (FGF23) was elevated. © 2013 The Author.

Haring N.,Academic Teaching Hospital Feldkirch | Mahr H.S.,Academic Teaching Hospital Feldkirch | Mahr H.S.,Vorarlberg Institute for Vascular Investigation and Treatment | Mundle M.,Academic Teaching Hospital Feldkirch | And 3 more authors.
British Journal of Dermatology | Year: 2011

Background Fumaric acid esters are considered efficacious and safe drugs for the treatment of psoriasis. Renal damage, caused either by acute renal injury or Fanconi syndrome, is a recognized side-effect of this therapy. Objectives To investigate whether the measurement of urinary excretion of β2-microglobulin, a marker of renal proximal tubular dysfunction, allows early detection of kidney damage before an increase in serum creatinine or significant proteinuria occurs. Methods Urinary β2-microglobulin excretion was measured regularly in 23 patients undergoing fumaric acid ester therapy. Results Urinary β2-microglobulin remained normal in all 10 male patients. Three (23%) out of 13 female patients experienced an increase in urinary β2-microglobulin excretion. In two of these patients a sharp increase was observed in association with high doses. One further patient had moderately elevated levels on rather low doses of fumaric acid esters. After discontinuing treatment, urinary β2-microglobulin levels returned to normal within a few weeks. Conclusion Determination of urinary β2-microglobulin possibly allows early detection of renal damage by fumaric acid esters. Female patients seem to be prone to this side-effect, especially when taking high doses. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

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