A5020940174- Kidney Stones and Urolithiasis Treatments
- Parathyroid Disorders and Treatments
- Ion Transport and Channel Regulation
- Pediatric Urology and Nephrology Studies
- Biomedical Research and Pathophysiology
- Circadian rhythm and melatonin
- Genetic and Kidney Cyst Diseases
- Electrolyte and hormonal disorders
- Magnesium in Health and Disease
- Gout, Hyperuricemia, Uric Acid
- Birth, Development, and Health
- Renal function and acid-base balance
- Dialysis and Renal Disease Management
- Therapeutic Uses of Natural Elements
- Vitamin D Research Studies
- Renal and related cancers
- Folate and B Vitamins Research
- Paleopathology and ancient diseases
- Hormonal Regulation and Hypertension
- Ion channel regulation and function
- Renal Diseases and Glomerulopathies
- Bone health and treatments
- Genetic Syndromes and Imprinting
- Diabetes Treatment and Management
- Metabolism and Genetic Disorders
University of Lausanne
2016-2025
University of Fribourg
2023-2025
Fribourg Development Agency
2022-2024
FORS – Swiss Centre of Expertise in the Social Sciences
2024
University Hospital of Lausanne
2014-2024
Réseau Fribourgeois de Santé Mentale
2023-2024
State Hospital
2024
University of Bern
2003-2023
Hôpital Orthopédique de la Suisse Romande
2012-2020
University of Zurich
2013-2020
Nephrolithiasis is one of the most common conditions affecting kidney and characterized by a high risk recurrence. Thiazide diuretic agents are widely used for prevention recurrence stones, but data regarding efficacy such as compared with placebo limited. Furthermore, dose–response also
Renal excretion of water and major electrolytes exhibits a significant circadian rhythm. This functional periodicity is believed to result, at least in part, from changes secretion/reabsorption capacities the distal nephron collecting ducts. Here, we studied molecular mechanisms underlying rhythms segments, i.e., convoluted tubule (DCT) connecting (CNT) cortical duct (CCD). Temporal expression analysis performed on microdissected mouse DCT/CNT or CCD revealed marked rhythmicity large number...
Elevated plasma urate levels are associated with metabolic, cardiovascular, and renal diseases. Urate may also form crystals, which can be deposited in joints causing gout kidney tubules inducing nephrolithiasis. In mice, controlled by hepatic breakdown, as well as, incompletely understood processes of reabsorption secretion. Here, we investigated the role recently identified transporter, Glut9, physiological control homeostasis using mice systemic or liver-specific inactivation Glut9 gene....
Fibroblast growth factor 23 (FGF23) is a circulating secreted by osteocytes that essential for phosphate homeostasis. In kidney proximal tubular cells FGF23 inhibits reabsorption and leads to decreased synthesis enhanced catabolism of 1,25-dihydroxyvitamin D3 (1,25[OH]2 ). Excess levels cause renal wasting suppression 1,25(OH)2 are associated with several hereditary hypophosphatemic disorders skeletal abnormalities, including X-linked rickets (XLH) autosomal recessive (ARHR). Currently,...
Abstract The functional interaction between fibroblast growth factor 23 (FGF-23) and Klotho in the control of vitamin D phosphate homeostasis is manifested by largely overlapping phenotypes Fgf23- Klotho-deficient mouse models. However, to date, targeted inactivation FGF receptors (FGFRs) has not provided clear evidence for an analogous function FGFRs this process. Here, means pharmacologic inhibition FGFRs, we demonstrate their involvement renal FGF-23/Klotho signaling elicit role...
The circadian clock contributes to the control of BP, but underlying mechanisms remain unclear. We analyzed rhythms in kidneys wild-type mice and lacking transcriptional activator gene. Mice deficient exhibited dramatic changes rhythm renal sodium excretion. In parallel, these lost normal plasma aldosterone levels. Analysis transcriptomes demonstrated multiple involved maintaining balance. Pathway analysis revealed strongest effect on enzymatic system formation 20-HETE, a powerful regulator...
The circadian timing system is critically involved in the maintenance of fluid and electrolyte balance BP control. However, role peripheral clocks these homeostatic mechanisms remains unknown. We addressed this question a mouse model carrying conditional allele clock gene Bmal1 expressing Cre recombinase under endogenous Renin promoter (Bmal1(lox/lox)/Ren1(d)Cre mice). Analysis Bmal1(lox/lox)/Ren1(d)Cre mice showed that floxed was excised kidney. In kidney, BMAL1 protein expression absent...
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage disease, primarily due to mutations in UMOD and MUC1. The lack clinical recognition the small size cohorts have slowed understanding ontology development diagnostic algorithms. We analyzed two registries from Europe United States define genetic characteristics ADTKD-UMOD ADTKD-MUC1 develop a practical score guide testing. Our study encompassed 726 patients 585 families with...
The circadian clock controls a wide variety of metabolic and homeostatic processes in number tissues, including the kidney. However, role renal clocks remains largely unknown. To address this question, we performed combined functional, transcriptomic, metabolomic analysis mice with inducible conditional knockout (cKO) BMAL1, which is critically involved system, tubular cells (Bmal1lox/lox/Pax8-rtTA/LC1 mice). Induction cKO adult did not produce obvious abnormalities sodium, potassium, or...
Background The sodium/glucose cotransporter 2 inhibitor empagliflozin has cardiorenal protective properties through mechanisms beyond glucose control. In this study we assessed whether modifies renal oxygenation as a possible mechanism of protection, and determined the metabolic, renal, hemodynamic effects in nondiabetic subjects. Methods Results double‐blind, randomized, placebo‐controlled study, 45 healthy volunteers underwent blood urine sampling, ultrasound,...
Abstract The Consensus Group deliberated on a number of questions concerning urine and stone analysis over period months, then met to develop consensus. concluded that analyses stones should be routine in the diagnosis treatment urinary diseases. At present, 24-h is most useful type collection, accepted methods for are described. Patient education also important obtaining proper sample. Graphical reporting results can helpful both physician educating patient as dietary changes could...
GLUT9 (SLC2A9) is a newly described urate transporter whose function, characteristics, and localization have just started to be elucidated. Some transport properties of human been studied in the Xenopus laevis oocyte expression system, but type (uniport, coupled stoichiometry ... .) still largely unknown. We used same experimental system characterize more detail mouse GLUT9, its sensitivity several uricosuric drugs, specificities two splice variants, mGLUT9a mGLUT9b. [(14)C]urate uptake...
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection tends to manifest third or fourth decade life. Multiple bilateral cysts are found on chest computed tomography...
Tight control of extracellular and intracellular inorganic phosphate (Pi) levels is critical to most biochemical physiologic processes. Urinary Pi freely filtered at the kidney glomerulus reabsorbed in renal tubule by action apical sodium-dependent transporters, NaPi-IIa/NaPi-IIc/Pit2. However, molecular identity protein(s) participating basolateral efflux remains unknown. Evidence has suggested that xenotropic polytropic retroviral receptor 1 (XPR1) might be involved this process. Here, we...
SLC2A9 or Glut9 is a voltage sensitive urate transporter, mainly expressed in the kidneys, liver and intestine. Human loss-of-function mutations were identified familial hypouricemia, several single nucleotide polymorphisms (SNPs) associated with lower serum urate, further indicating that major determinant of uric acid level. To get insights transport characteristics, we systematically analyzed function known human mutants using 14C-urate uptake assay two-electrode clamp (TEVC) X. laevis...
Inositol phosphates (InsPs) are ubiquitous in all eukaryotes. However, since there 63 possible different phosphate ester isomers, the analysis of InsPs is challenging. In particular, InsP1, InsP2, and InsP3 already amass 41 which some occur as enantiomers. Profiling these "lower" inositol mammalian tissues requires powerful analytical methods reference compounds. Here, we report an InsP2 with capillary electrophoresis coupled to electrospray ionization mass spectrometry (CE-ESI-MS). Using...
The autosomal recessive form of type I pseudohypoaldosteronism (PHA-I) is an inherited salt-losing syndrome resulting from diminution-of-function mutations in the 3 subunits epithelial Na+ channel (ENaC). A PHA-I stop mutation (αR508stop) ENaC α subunit predicted to lack second transmembrane domain and intracellular COOH-terminus, regions protein involved pore function. Nonetheless, we observed a measurable current Xenopus laevis oocytes that coexpress β γ with truncated subunit. mutant was...
Paracrine communication between different parts of the renal tubule is increasingly recognized as an important determinant function. Previous studies have shown that changes in dietary acid-base load can reverse direction apical α-ketoglutarate (αKG) transport proximal and Henle's loop from reabsorption (acid load) to secretion (base load). Here we show resulting luminal concentrations αKG are sensed by receptor OXGR1 expressed type B non-A-non-B intercalated cells connecting (CNT) cortical...
Abstract Despite the possible benefit from avoiding stone surgery with all its complications, oral chemolysis is rarely performed in patients urinary stones suspected of uric acid content. Among reasons for limited use sparse and low-quality data on efficacy lack reliable factors predicting outcome. We thus a retrospective single-center cohort study 216 (median patient age 63 years) 272 renal (48%) and/or ureteral (52%) treated 01/2010 to 12/2019. Patients low urine pH (< 6), density upon...