Literature DB >> 25165189

Nephropathic cystinosis: an international consensus document.

Francesco Emma1, Galina Nesterova2, Craig Langman3, Antoine Labbé4, Stephanie Cherqui5, Paul Goodyer6, Mirian C Janssen7, Marcella Greco1, Rezan Topaloglu8, Ewa Elenberg9, Ranjan Dohil10, Doris Trauner11, Corinne Antignac12, Pierre Cochat13, Frederick Kaskel14, Aude Servais15, Elke Wühl16, Patrick Niaudet17, William Van't Hoff18, William Gahl2, Elena Levtchenko19.   

Abstract

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 document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.
© The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Entities:  

Keywords:  CTNS gene; cysteamine treatment; cystinosis; extra-renal complications; renal Fanconi syndrome

Mesh：

Year:  2014        PMID： 25165189      PMCID： PMC4158338          DOI： 10.1093/ndt/gfu090

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


  67 in total

1.  Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.

Authors:  Raquel Ruivo; Gian Carlo Bellenchi; Xiong Chen; Giovanni Zifarelli; Corinne Sagné; Cécile Debacker; Michael Pusch; Stéphane Supplisson; Bruno Gasnier
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-09       Impact factor: 11.205

2.  Improvement in the renal prognosis in nephropathic cystinosis.

Authors:  Karlijn J Van Stralen; Francesco Emma; Kitty J Jager; Enrico Verrina; Franz Schaefer; Guido F Laube; Malcolm A Lewis; Elena N Levtchenko
Journal:  Clin J Am Soc Nephrol       Date:  2011-08-25       Impact factor: 8.237

3.  Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells.

Authors:  Martijn J Wilmer; Leo A J Kluijtmans; Thea J van der Velden; Peter H Willems; Peter G Scheffer; Rosalinde Masereeuw; Leo A Monnens; Lambertus P van den Heuvel; Elena N Levtchenko
Journal:  Biochim Biophys Acta       Date:  2011-02-28

4.  A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.

Authors:  Craig B Langman; Larry A Greenbaum; Minnie Sarwal; Paul Grimm; Patrick Niaudet; Georges Deschênes; Elisabeth Cornelissen; Denis Morin; Pierre Cochat; Debora Matossian; Segolene Gaillard; Mary Jo Bagger; Patrice Rioux
Journal:  Clin J Am Soc Nephrol       Date:  2012-05-03       Impact factor: 8.237

5.  Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults.

Authors:  Albane Brodin-Sartorius; Marie-Josèphe Tête; Patrick Niaudet; Corinne Antignac; Geneviève Guest; Chris Ottolenghi; Marina Charbit; Dominique Moyse; Christophe Legendre; Philippe Lesavre; Pierre Cochat; Aude Servais
Journal:  Kidney Int       Date:  2011-09-07       Impact factor: 10.612

6.  Distribution of cystinosin-LKG in human tissues.

Authors:  Anna Taranta; Stefania Petrini; Arianna Citti; Renata Boldrini; Serena Corallini; Francesco Bellomo; Elena Levtchenko; Francesco Emma
Journal:  Histochem Cell Biol       Date:  2012-04-29       Impact factor: 4.304

7.  Cysteamine toxicity in patients with cystinosis.

Authors:  Martine T P Besouw; Richard Bowker; Jean-Paul Dutertre; Francesco Emma; William A Gahl; Marcella Greco; Marc R Lilien; John McKiernan; François Nobili; Jerry A Schneider; Flemming Skovby; Lambertus P van den Heuvel; William G Van't Hoff; Elena N Levtchenko
Journal:  J Pediatr       Date:  2011-07-23       Impact factor: 4.406

8.  Kidney preservation by bone marrow cell transplantation in hereditary nephropathy.

Authors:  Brian A Yeagy; Frank Harrison; Marie-Claire Gubler; James A Koziol; Daniel R Salomon; Stephanie Cherqui
Journal:  Kidney Int       Date:  2011-01-19       Impact factor: 10.612

Review 9.  Cystinosis: practical tools for diagnosis and treatment.

Authors:  Martijn J Wilmer; Joost P Schoeber; Lambertus P van den Heuvel; Elena N Levtchenko
Journal:  Pediatr Nephrol       Date:  2010-08-24       Impact factor: 3.714

10.  Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.

Authors:  Diana M Iglesias; Reyhan El-Kares; Anna Taranta; Francesco Bellomo; Francesco Emma; Martine Besouw; Elena Levtchenko; Jaan Toelen; Lambertus van den Heuvel; Leelee Chu; Jing Zhao; Yoon Kow Young; Nicoletta Eliopoulos; Paul Goodyer
Journal:  PLoS One       Date:  2012-08-13       Impact factor: 3.240
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  59 in total

1.  Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study.

Authors:  Thurid Ahlenstiel-Grunow; Nele K Kanzelmeyer; Kerstin Froede; Martin Kreuzer; Jens Drube; Christian Lerch; Lars Pape
Journal:  Pediatr Nephrol       Date:  2016-06-27       Impact factor: 3.714

Review 2.  An update on the role of the inflammasomes in the pathogenesis of kidney diseases.

Authors:  Murthy N Darisipudi; Felix Knauf
Journal:  Pediatr Nephrol       Date:  2015-07-16       Impact factor: 3.714

3.  Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis.

Authors:  Anup Arunrao Deshpande; Rajan Ravichandran; Anand Kumar Bachhawat
Journal:  Indian J Pediatr       Date:  2016-11-25       Impact factor: 1.967

4.  Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.

Authors:  Pablo Florenzano; Macarena Jimenez; Carlos R Ferreira; Galina Nesterova; Mary Scott Roberts; Sri Harsha Tella; Luis Fernandez de Castro; Rachel I Gafni; Myles Wolf; Harald Jüppner; Barbara Gales; Katherine Wesseling-Perry; Daniela Markovich; William A Gahl; Isidro B Salusky; Michael T Collins
Journal:  J Am Soc Nephrol       Date:  2020-07-06       Impact factor: 10.121

Review 5.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

6.  Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.

Authors:  Ester De Leo; Mohamed A Elmonem; Sante Princiero Berlingerio; Marine Berquez; Beatrice Paola Festa; Roberto Raso; Francesco Bellomo; Tobias Starborg; Manoe Jacoba Janssen; Zeinab Abbaszadeh; Sara Cairoli; Bianca Maria Goffredo; Rosalinde Masereeuw; Olivier Devuyst; Martin Lowe; Elena Levtchenko; Alessandro Luciani; Francesco Emma; Laura Rita Rega
Journal:  J Am Soc Nephrol       Date:  2020-06-05       Impact factor: 10.121

7.  Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.

Authors:  Aurélia Bertholet-Thomas; Debora Claramunt-Taberner; Ségolène Gaillard; Georges Deschênes; Elisabeth Sornay-Rendu; Pawel Szulc; Martine Cohen-Solal; Solenne Pelletier; Marie-Christine Carlier; Pierre Cochat; Justine Bacchetta
Journal:  Pediatr Nephrol       Date:  2018-02-12       Impact factor: 3.714

8.  Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis.

Authors:  Francesco Bellomo; Anna Signorile; Grazia Tamma; Marianna Ranieri; Francesco Emma; Domenico De Rasmo
Journal:  Cell Mol Life Sci       Date:  2018-03-16       Impact factor: 9.261

Review 9.  Skeletal implications and management of cystinosis: three case reports and literature review.

Authors:  Justine Bacchetta; Marcella Greco; Aurélia Bertholet-Thomas; François Nobili; Jozef Zustin; Pierre Cochat; Francesco Emma; Georges Boivin
Journal:  Bonekey Rep       Date:  2016-08-17

10.  Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.

Authors:  Virginie Janssens; Héloïse P Gaide Chevronnay; Sandrine Marie; Marie-Françoise Vincent; Patrick Van Der Smissen; Nathalie Nevo; Seppo Vainio; Rikke Nielsen; Erik I Christensen; François Jouret; Corinne Antignac; Christophe E Pierreux; Pierre J Courtoy
Journal:  J Am Soc Nephrol       Date:  2019-09-23       Impact factor: 10.121
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