Search Results - "PIRSON, Yves"
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Autosomal dominant polycystic kidney disease
Published in The Lancet (British edition) (14-04-2007)“…Summary Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial…”
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Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Published in Kidney international (01-07-2015)“…Autosomal-dominant polycystic kidney disease (ADPKD) affects up to 12 million individuals and is the fourth most common cause for renal replacement therapy…”
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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
Published in Kidney international (01-09-2020)“…Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in…”
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Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy
Published in Kidney international (01-03-2012)“…Alport syndrome inevitably leads to end-stage renal disease and there are no therapies known to improve outcome. Here we determined whether…”
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Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations
Published in Kidney international (01-04-2012)“…We studied here the clinical course of heterozygous carriers of X-linked Alport syndrome and a subgroup of patients with thin basement membrane disease due to…”
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Complement activation and effect of eculizumab in scleroderma renal crisis
Published in Medicine (Baltimore) (01-07-2016)“…Scleroderma renal crisis (SRC) is a life-threatening complication of systemic sclerosis characterized by abrupt onset of hypertension, thrombotic…”
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Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice
Published in Nephrology, dialysis, transplantation (01-03-2013)“…Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in…”
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Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome
Published in Nephrology, dialysis, transplantation (01-05-2017)“…Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its…”
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Positron-Emission Computed Tomography in Cyst Infection Diagnosis in Patients with Autosomal Dominant Polycystic Kidney Disease
Published in Clinical journal of the American Society of Nephrology (01-07-2011)“…Cyst infection remains a challenging issue in patients with autosomal dominant polycystic kidney disease (ADPKD). In most patients, conventional imaging…”
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Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations
Published in Clinical journal of the American Society of Nephrology (01-10-2011)“…UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific…”
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Rituximab for minimal-change nephrotic syndrome in adulthood: predictive factors for response, long-term outcomes and tolerance
Published in Nephrology, dialysis, transplantation (01-11-2014)“…Minimal-change nephrotic syndrome (MCNS) is a common cause of steroid sensitive nephrotic syndrome (NS) with frequent relapse. Although steroids and…”
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Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease
Published in Advances in chronic kidney disease (01-03-2010)“…Although asymptomatic in most patients, extrarenal manifestations of ADPKD may become more clinically relevant with the increasing life expectancy of affected…”
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Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome
Published in Proceedings of the National Academy of Sciences - PNAS (28-10-2003)“…Membrane cofactor protein (MCP; CD46) is a widely expressed transmembrane complement regulator. Like factor H it inhibits complement activation by regulating…”
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene
Published in PLoS medicine (01-10-2006)“…Sequence analysis of the regulators of complement activation (RCA) cluster of genes at chromosome position 1q32 shows evidence of several large genomic…”
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Association of PKD2 (Polycystin 2) Mutations With Left-Right Laterality Defects
Published in American journal of kidney diseases (01-09-2011)“…Mutations in the PKD1 (polycystin 1) and PKD2 (polycystin 2) genes cause autosomal dominant polycystic kidney disease (ADPKD). Most Pkd2 -null mouse embryos…”
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Carbohydrate Antigen 19-9 as a Diagnostic Marker for Hepatic Cyst Infection in Autosomal Dominant Polycystic Kidney Disease
Published in American journal of kidney diseases (01-05-2010)“…The diagnosis of hepatic cyst infection is difficult in patients with autosomal dominant polycystic kidney disease (ADPKD). We hypothesized that carbohydrate…”
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Mutations in SEC63 cause autosomal dominant polycystic liver disease
Published in Nature genetics (01-06-2004)“…Mutations in PRKCSH, encoding the β-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant…”
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Recurrence and Graft Loss after Kidney Transplantation for Henoch–Schönlein Purpura Nephritis: A Multicenter Analysis
Published in Clinical journal of the American Society of Nephrology (01-07-2011)“…The actuarial risk at 5 years for clinical recurrence of Henoch-Schönlein purpura nephritis (HSPN) and graft loss caused by recurrence of -HSPN after renal…”
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Genotype and Outcome After Kidney Transplantation in Alport Syndrome
Published in Kidney international reports (01-05-2018)“…Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine the progression of AS. Posttransplantation outcome…”
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Comparison between siblings and twins supports a role for modifier genes in ADPKD
Published in Kidney international (01-12-2004)“…Comparison between siblings and twins supports a role for modifier genes in ADPKD. Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by…”
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