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2. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

Author

Emma, Francesco, Hoff, William van’t, Hohenfellner, Katharina, Topaloglu, Rezan, Greco, Marcella, Ariceta, Gema, Bettini, Chiara, Bockenhauer, Detlef, Veys, Koenraad, Pape, Lars, Hulton, Sally, Collin, Suzanne, Ozaltin, Fatih, Servais, Aude, Deschênes, Georges, Novo, Robert, Bertholet-Thomas, Aurélia, Oh, Jun, Cornelissen, Elisabeth, Janssen, Mirian, Haffner, Dieter, Ravà, Lucilla, Antignac, Corinne, Devuyst, Olivier, Niaudet, Patrick, and Levtchenko, Elena

Published
2021
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3. #2245 ECYSCO, a European cystinosis cohort

Author

Servais, Aude, primary, Bramki, Khalil, additional, Greco, Marcella, additional, Levtchenko, Elena, additional, Ariceta, Gema, additional, Hogan, Julien, additional, Bacchetta, Justine, additional, Bertholet-Thomas, Aurélia, additional, Lemoine, Sandrine, additional, Emma, Francesco, additional, Gueguen, Sonia, additional, and Niaudet, Patrick, additional

Published
2024
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4. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Author

Jobst-Schwan, Tilman, Klämbt, Verena, Tarsio, Maureen, Heneghan, John F., Majmundar, Amar J., Shril, Shirlee, Buerger, Florian, Ottlewski, Isabel, Shmukler, Boris E., Topaloglu, Rezan, Hashmi, Seema, Hafeez, Farkhanda, Emma, Francesco, Greco, Marcella, Laube, Guido F., Fathy, Hanan M., Pohl, Martin, Gellermann, Jutta, Milosevic, Danko, Baum, Michelle A., Mane, Shrikant, Lifton, Richard P., Kane, Patricia M., Alper, Seth L., and Hildebrandt, Friedhelm

Published
2020
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6. Nephropathic cystinosis: an international consensus document

Author

Emma, Francesco, Nesterova, Galina, Langman, Craig, Labbé, Antoine, Cherqui, Stephanie, Goodyer, Paul, Janssen, Mirian C, Greco, Marcella, Topaloglu, Rezan, Elenberg, Ewa, Dohil, Ranjan, Trauner, Doris, Antignac, Corinne, Cochat, Pierre, Kaskel, Frederick, Servais, Aude, Wühl, Elke, Niaudet, Patrick, Hoff, William Van't, Gahl, William, and Levtchenko, Elena

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Kidney Disease, Rare Diseases, Pediatric, Child, Cystinosis, Fanconi Syndrome, Humans, Practice Guidelines as Topic, Societies, Medical, CTNS gene, cysteamine treatment, cystinosis, extra-renal complications, renal Fanconi syndrome, Urology & Nephrology, Clinical sciences
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.

Published
2014

7. A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients.

Author

Simeoli, Raffaele, Cairoli, Sara, Greco, Marcella, Bellomo, Francesco, Mancini, Alessandro, Rossi, Chiara, Dionisi Vici, Carlo, Emma, Francesco, and Goffredo, Bianca Maria

Subjects
LIQUID chromatography-mass spectrometry, CYSTEAMINE, ORAL drug administration
Abstract

Cystinosis is a rare lysosomal storage disorder caused by autosomal recessive mutations in the CTNS gene that encodes for the cystine transporter cystinosin, which is expressed on the lysosomal membrane mediating the efflux of cystine. Cysteamine bitartrate is a cystine-depleting aminothiol agent approved for the treatment of cystinosis in children and adults. In this study, we developed and validated a liquid chromatography–tandem mass spectrometry (LC-MS/MS) method for the determination of cysteamine levels in plasma samples. This LC-MS/MS method was validated according to the European Medicines Agency (EMA)'s guidelines for bioanalytical method validation. An ultra-performance liquid chromatograph (UPLC) coupled with a 6470 mass spectrometry system was used for cysteamine determination. Our validated method was applied to plasma samples from n = 8 cystinosis patients (median, interquartile range (IQR) = 20.5, 8.5–26.0 years). The samples were collected before cysteamine oral administration (pre-dose) and 1 h after (post-dose). Our bioanalytical method fulfilled the regulatory guidelines for method validation. The cysteamine plasma levels in pre-dose samples were 2.57 and 1.50–3.31 μM (median and IQR, respectively), whereas the post-dose samples reported a cysteamine median concentration of 28.00 μM (IQR: 17.60–36.61). Our method allows the rapid determination of cysteamine plasma levels. This method was successfully used in cystinosis patients and, therefore, could be a useful tool for the evaluation of therapy adherence and for future pharmacokinetic (PK) studies involving a higher number of subjects. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Author

Amon, Oliver, Ariceta, Gema, Basurto, Maryan, Belmont-Martínez, Leticia, Bertholet-Thomas, Aurélia, Bos, Marjolein, Brown, Thomas, Cherqui, Stephanie, Cornelissen, Elisabeth A.M., Del Monte, Monte, Ding, Jie, Dohil, Ranjan, Doyle, Maya, Elenberg, Ewa, Gahl, William A., Gomez, Victor, Greco, Marcella, Greeley, Christy, Greenbaum, Larry A., Grimm, Paul, Hohenfellner, Katharina, Holm, Teresa, Hotz, Valerie, Janssen, Mirian C., Kaskel, Frederick, Magriço, Rita, Nesterova, Galina, Newsholme, Philip, Niaudet, Patrick, Rioux, Patrice, Sarwal, Minnie M., Schneider, Jerry, Topaloglu, Rezan, Trauner, Doris A., Vaisbich, Maria Helena, van den Heuvel, Lambertus P., Van't Hoff, William, Langman, Craig B., Barshop, Bruce A., Deschênes, Georges, Emma, Francesco, Goodyer, Paul, Lipkin, Graham, Midgley, Julian P., Ottolenghi, Chris, Servais, Aude, Soliman, Neveen A., Thoene, Jess G., and Levtchenko, Elena N.

Published
2016
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10. Cysteamine Toxicity in Patients with Cystinosis

Author

Besouw, Martine T.P., Bowker, Richard, Dutertre, Jean-Paul, Emma, Francesco, Gahl, William A., Greco, Marcella, Lilien, Marc R., McKiernan, John, Nobili, François, Schneider, Jerry A., Skovby, Flemming, van den Heuvel, Lambertus P., Van’t Hoff, William G., and Levtchenko, Elena N.

Published
2011
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12. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Emma, Francesco, Hoff, William van’t, Hohenfellner, Katharina, Topaloglu, Rezan, Greco, Marcella, Ariceta, Gema, Bettini, Chiara, Bockenhauer, Detlef, Veys, Koenraad, Pape, Lars, Hulton, Sally, Collin, Suzanne, Ozaltin, Fatih, Servais, Aude, Deschênes, Georges, Novo, Robert, Bertholet-Thomas, Aurélia, Oh, Jun, Cornelissen, Elisabeth, Janssen, Mirian, Haffner, Dieter, Ravà, Lucilla, Antignac, Corinne, Devuyst, Olivier, Niaudet, Patrick, Levtchenko, Elena, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Emma, Francesco, Hoff, William van’t, Hohenfellner, Katharina, Topaloglu, Rezan, Greco, Marcella, Ariceta, Gema, Bettini, Chiara, Bockenhauer, Detlef, Veys, Koenraad, Pape, Lars, Hulton, Sally, Collin, Suzanne, Ozaltin, Fatih, Servais, Aude, Deschênes, Georges, Novo, Robert, Bertholet-Thomas, Aurélia, Oh, Jun, Cornelissen, Elisabeth, Janssen, Mirian, Haffner, Dieter, Ravà, Lucilla, Antignac, Corinne, Devuyst, Olivier, Niaudet, Patrick, and Levtchenko, Elena

Abstract

Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years, the disease has evolved from being a fatal condition during early childhood into a treatable condition, with patients surviving into adulthood. Data on cystinosis are limited by the rarity of the disease. Here, we have investigated factors associated with kidney and growth outcome in a very large cohort of 453 patients born between 1964 and 2016 and followed in Belgium, Germany, Austria, France, Italy, Spain, The Netherlands, Turkey and United Kingdom. From the 1970s to the 1990s, the median increase in kidney survival was 9.1 years. During these years, cysteamine, a cystine-depleting agent, was introduced for the treatment of cystinosis. Significant risk factors associated with early progression to end-stage kidney disease assessed by Cox proportional multivariable analysis included delayed initiation of cysteamine therapy and higher mean leucocyte cystine levels. No significant effect on kidney function was observed for gender, pathogenic variant of the CTNS gene, and the prescription of indomethacin or renin angiotensin system blockers. Significantly improved linear growth was associated with early use of cysteamine and lower leukocyte cystine levels. Thus, our study provides strong evidence in favor of early diagnosis and optimization of cystine depletion therapy in nephropathic cystinosis.

Published
2021

13. Pregnancy in cystinosis patients with chronic kidney disease: A European case series.

Author

Servais, Aude, Janssen, Mirian C. H., Blakey, Hannah, Greco, Marcella, Lemoine, Sandrine, Martin‐Moreno, Paloma L., Game, David, Levtchenko, Elena, and Lipkin, Graham

Abstract

Cystinosis is a rare autosomal recessive disease leading to end‐stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes an increasing concern. Pregnancy data in patients with cystinosis were collected through an anonymized survey. We collected data for 19 pregnancies in 12 women. Seventeen patients were transplanted, 1 was on hemodialysis and 1 had chronic kidney disease (CKD) stage 4. These 19 pregnancies resulted in 13 live births (68.4%): 3 spontaneous early miscarriages, 1 ectopic pregnancy, 1 early pre‐eclampsia (at 21 weeks), and 1 preterm birth with neonatal death at 24 weeks were reported. After exclusion of early miscarriage or termination, pregnancy success rate was 86.7%. In successful pregnancies, median gestational age at delivery was 34 weeks (24–37). Preeclampsia occurred in seven pregnancies (7/15, 46.7%). A cesarean section was performed in all pregnancies. Median baby weight at delivery was 2175 g (620–3374 g). After pregnancy, one patient reached end‐stage renal disease, but she already had advanced CKD before pregnancy (creatinine 239 μmol/L, eGFR 23 ml/min/1.73 m2). In three other patients, there was a decrease of eGFR of 8, 20, and 53 ml/min/1.73 m2, respectively. The majority of pregnancies were successful, but severe antenatal and post‐natal complications may occur, in particular preeclampsia that was noticed in nearly half of patients and fetal loss in one‐third of them. These results may help pre‐pregnancy counseling and pregnancy management. [ABSTRACT FROM AUTHOR]

Published
2022
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16. Additional file 1: of Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Author

AurĂŠlia Bertholet-Thomas, Berthiller, Julien, Tasic, Velibor, Kassai, Behrouz, Otukesh, Hasan, Greco, Marcella, Ehrich, Jochen, Bernardes, Rejane De Paula, DeschĂŞnes, Georges, Sally-Ann Hulton, Fischbach, Michel, Soulami, Kenza, Saeed, Bassam, Valavi, Ehsan, Cobenas, Carlos, BĂźlent Hacihamdioglu, Weiler, Gabrielle, Cochat, Pierre, and Bacchetta, Justine

Abstract

The copy of the questionnaire that was sent by mail. (DOCX 12Â kb)

Published
2017
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17. Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Author

Bertholet-Thomas, Aurélia, primary, Berthiller, Julien, additional, Tasic, Velibor, additional, Kassai, Behrouz, additional, Otukesh, Hasan, additional, Greco, Marcella, additional, Ehrich, Jochen, additional, de Paula Bernardes, Rejane, additional, Deschênes, Georges, additional, Hulton, Sally-Ann, additional, Fischbach, Michel, additional, Soulami, Kenza, additional, Saeed, Bassam, additional, Valavi, Ehsan, additional, Cobenas, Carlos Jose, additional, Hacihamdioglu, Bülent, additional, Weiler, Gabrielle, additional, Cochat, Pierre, additional, and Bacchetta, Justine, additional

Published
2017
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19. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Author

Langman, Craig B., primary, Barshop, Bruce A., additional, Deschênes, Georges, additional, Emma, Francesco, additional, Goodyer, Paul, additional, Lipkin, Graham, additional, Midgley, Julian P., additional, Ottolenghi, Chris, additional, Servais, Aude, additional, Soliman, Neveen A., additional, Thoene, Jess G., additional, Levtchenko, Elena N., additional, Amon, Oliver, additional, Ariceta, Gema, additional, Basurto, Maryan, additional, Belmont-Martínez, Leticia, additional, Bertholet-Thomas, Aurélia, additional, Bos, Marjolein, additional, Brown, Thomas, additional, Cherqui, Stephanie, additional, Cornelissen, Elisabeth A.M., additional, Del Monte, Monte, additional, Ding, Jie, additional, Dohil, Ranjan, additional, Doyle, Maya, additional, Elenberg, Ewa, additional, Gahl, William A., additional, Gomez, Victor, additional, Greco, Marcella, additional, Greeley, Christy, additional, Greenbaum, Larry A., additional, Grimm, Paul, additional, Hohenfellner, Katharina, additional, Holm, Teresa, additional, Hotz, Valerie, additional, Janssen, Mirian C., additional, Kaskel, Frederick, additional, Magriço, Rita, additional, Nesterova, Galina, additional, Newsholme, Philip, additional, Niaudet, Patrick, additional, Rioux, Patrice, additional, Sarwal, Minnie M., additional, Schneider, Jerry, additional, Topaloglu, Rezan, additional, Trauner, Doris A., additional, Vaisbich, Maria Helena, additional, van den Heuvel, Lambertus P., additional, and Van't Hoff, William, additional

Published
2016
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20. Whole exome sequencing identified ATP6V1C2as a novel candidate gene for recessive distal renal tubular acidosis

Author

Jobst-Schwan, Tilman, Klämbt, Verena, Tarsio, Maureen, Heneghan, John F., Majmundar, Amar J., Shril, Shirlee, Buerger, Florian, Ottlewski, Isabel, Shmukler, Boris E., Topaloglu, Rezan, Hashmi, Seema, Hafeez, Farkhanda, Emma, Francesco, Greco, Marcella, Laube, Guido F., Fathy, Hanan M., Pohl, Martin, Gellermann, Jutta, Milosevic, Danko, Baum, Michelle A., Mane, Shrikant, Lifton, Richard P., Kane, Patricia M., Alper, Seth L., and Hildebrandt, Friedhelm

Abstract

Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1and SLC4A1)constitute a monogenic causation in 58-70% of familial cases of distal renal tubular acidosis. Recently, mutations in FOXI1have been identified as an additional cause. Therefore, we hypothesized that further monogenic causes of distal renal tubular acidosis remain to be discovered. Panel sequencing and/or whole exome sequencing was performed in a cohort of 17 families with 19 affected individuals with pediatric onset distal renal tubular acidosis. A causative mutation was detected in one of the three “classical” known distal renal tubular acidosis genes in 10 of 17 families. The seven unsolved families were then subjected to candidate whole exome sequencing analysis. Potential disease causing mutations in three genes were detected: ATP6V1C2, which encodes another kidney specific subunit of the V-type proton ATPase (1 family); WDR72(2 families), previously implicated in V-ATPase trafficking in cells; and SLC4A2(1 family),a paralog of the known distal renal tubular acidosis gene SLC4A1.Two of these mutations were assessed for deleteriousness through functional studies. Yeast growth assays for ATP6V1C2revealed loss-of-function for the patient mutation, strongly supporting ATP6V1C2as a novel distal renal tubular acidosis gene. Thus, we provided a molecular diagnosis in a known distal renal tubular acidosis gene in 10 of 17 families (59%) with this disease, identified mutations in ATP6V1C2as a novel human candidate gene, and provided further evidence for phenotypic expansion in WDR72mutations from amelogenesis imperfecta to distal renal tubular acidosis.

Published
2020
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21. Copper Deficiency in Patients with Cystinosis with Cysteamine Toxicity

Author

Besouw, Martine T P, Schneider, Jerry, Janssen, Mirian C, Greco, Marcella, Emma, Francesco, Cornelissen, Elisabeth A, Desmet, Koen, Skovby, Flemming, Nobili, François, Lilien, Marc R, De Paepe, Anne, Malfait, Fransiska, Symoens, Sofie, van den Heuvel, Lambertus P, Levtchenko, Elena N, Besouw, Martine T P, Schneider, Jerry, Janssen, Mirian C, Greco, Marcella, Emma, Francesco, Cornelissen, Elisabeth A, Desmet, Koen, Skovby, Flemming, Nobili, François, Lilien, Marc R, De Paepe, Anne, Malfait, Fransiska, Symoens, Sofie, van den Heuvel, Lambertus P, and Levtchenko, Elena N

Published
2013

22. Cysteamine toxicity in patients with cystinosis

Author

Besouw, Martine T P, Bowker, Richard, Dutertre, Jean-Paul, Emma, Francesco, Gahl, William A, Greco, Marcella, Lilien, Marc R, McKiernan, John, Nobili, François, Schneider, Jerry A, Skovby, Flemming, van den Heuvel, Lambertus P, Van't Hoff, William G, Levtchenko, Elena N, Besouw, Martine T P, Bowker, Richard, Dutertre, Jean-Paul, Emma, Francesco, Gahl, William A, Greco, Marcella, Lilien, Marc R, McKiernan, John, Nobili, François, Schneider, Jerry A, Skovby, Flemming, van den Heuvel, Lambertus P, Van't Hoff, William G, and Levtchenko, Elena N

Abstract

To report new adverse effects of cysteamine.

Published
2011

24. Mutational spectrum of the CTNS gene in Italy

Author

Mason, Silvia, primary, Pepe, Guglielmina, additional, Dall'Amico, Roberto, additional, Tartaglia, Sara, additional, Casciani, Stefania, additional, Greco, Marcella, additional, Bencivenga, Paola, additional, Murer, Luisa, additional, Rizzoni, Gianfranco, additional, Tenconi, Romano, additional, and Clementi, Maurizio, additional

Published
2003
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