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Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial

This report describes the rationale and design of a study assessing tolvaptan in children with autosomal dominant polycystic kidney disease (ADPKD). Phase A is a 1-year, randomized, double-blind, placebo-controlled, multicenter trial. Phase B is a 2-year, open-label extension. The target population is at least 60 children aged 12–17 years, diagnosed by family history and/or...

Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells

journals • PubMed • Google ScholarSearch for Maria Antonietta De Matteis in:Nature Research journals • PubMed • Google ScholarSearch for Francesco Emma in:Nature Research journals • PubMed • Google Scholar

Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting

Cystinosin mediates an ATP-dependent cystine efflux from lysosomes and causes, if mutated, nephropathic cystinosis, a rare inherited lysosomal storage disease. Alternative splicing of the last exon of the cystinosin sequence produces the cystinosin-LKG isoform that is characterized by a different C-terminal region causing changes in the subcellular distribution of the protein. We...

Permissive hypofiltration: an alternative view

If permissive hypercapnia is used in the context of protective ventilation for patients with acute respiratory distress syndrome, it must be highlighted that the alveoli in these patients are still exposed to significant stress. Similarly, early renal replacement therapy is not necessarily a protective therapy for acute kidney injury and loop diuretics are not necessarily harmful...

Renal Mitochondrial Cytopathies

Institute, 00165 Rome, Italy Received 19 April 2011; Accepted 3 June 2011 Academic Editor: Patrick Niaudet Copyright © 2011 Francesco Emma et al. This is an open access article distributed under the

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice

Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney disease (ADPKD) in adult patients with chronic kidney disease stages 1–3 at initiation of treatment with evidence of rapidly progressing disease. In this paper, on...

Calcium-Sensing Receptor and Aquaporin 2 Interplay in Hypercalciuria-Associated Renal Concentrating Defect in Humans. An In Vivo and In Vitro Study

One mechanism proposed for reducing the risk of calcium renal stones is activation of the calcium-sensing receptor (CaR) on the apical membranes of collecting duct principal cells by high luminal calcium. This would reduce the abundance of aquaporin-2 (AQP2) and in turn the rate of water reabsorption. While evidence in cells and in hypercalciuric animal models supports this...

Paediatric nephrology - B

Introduction and Aims: Matrix metalloproteinases (MMPs), their tissue inhibitors (TIMPs), adhesion molecules and heat shock proteins (hsps) may play an essential role in the process of renal fibrosis. Recent animal studies have shown that the inhibition of selected MMPs and hsps may slow down the progression of fibrosis or even reverse it. However, the data concerning such...

Lupus nephritis in children and adolescents: results of the Italian Collaborative Study

: 2069-2074 Alberto Edefonti5, Rosanna Coppo3 and Francesco Emma1 - Correspondence and offprint requests to: Francesco Emma; E-mail: Background. Lupus nephritis (LN) strongly affects the outcome in

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

Background Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12 receptor complex, cubam. The cubam receptor proteins cubilin and amnionless are both expressed in the small intestine as well as the proximal tubules of the...

Nephropathic cystinosis: an international consensus document

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this...

The ERA-EDTA Working Group on inherited kidney disorders

Olivier Devuyst Corinne Antignac Rene J.M. Bindels Dominique Chauveau Francesco Emma Ron Gansevoort Patrick H. Maxwell Albert C.M. Ong Giuseppe Remuzzi Pierre Ronco Franz Schaefer Correspondence and

Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro

Cystinosis is a rare disease caused by homozygous mutations of the CTNS gene, encoding a cystine efflux channel in the lysosomal membrane. In Ctns knockout mice, the pathologic intralysosomal accumulation of cystine that drives progressive organ damage can be reversed by infusion of wildtype bone marrow-derived stem cells, but the mechanism involved is unclear since the...

Severe syncope and sudden death in children with inborn salt-losing hypokalaemic tubulopathies

Background. Potassium deficiency may cause cardiac arrhythmias culminating in syncope or sudden death. Methods. An inquiry performed among physicians caring for a total of 249 patients with inborn salt-losing tubulopathies revealed that acute cardiac complications occurred in seven children. Results. Four patients died suddenly and three had severe syncope. These episodes...

Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: a model of the complex relationship between ACE quantitative trait locus and pathological phenotypes

It is highly controversial to define the role of angiotensin-converting enzyme (ACE) polymorphisms in essential hypertension. We studied a group of patients in whom hypertension was the major side effect of treatment by cyclosporine A (CsA). This study group comprised 227 Italian patients with nephrotic syndrome, 103 of which were treated with CsA and had different outcome. Forty...

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-learning approach, using SYSCILIA...