TY - JOUR
T1 - Controversies and research agenda in nephropathic cystinosis
T2 - conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
AU - for Conference Participants
AU - Conference Participants
AU - Langman, Craig B.
AU - Barshop, Bruce A.
AU - Deschênes, Georges
AU - Emma, Francesco
AU - Goodyer, Paul
AU - Lipkin, Graham
AU - Midgley, Julian P.
AU - Ottolenghi, Chris
AU - Servais, Aude
AU - Soliman, Neveen A.
AU - Thoene, Jess G.
AU - Levtchenko, Elena N.
AU - Amon, Oliver
AU - Ariceta, Gema
AU - Basurto, Maryan
AU - Belmont-Martínez, Leticia
AU - Bertholet-Thomas, Aurélia
AU - Bos, Marjolein
AU - Brown, Thomas
AU - Cherqui, Stephanie
AU - Cornelissen, Elisabeth A.M.
AU - Del Monte, Monte
AU - Ding, Jie
AU - Dohil, Ranjan
AU - Doyle, Maya
AU - Elenberg, Ewa
AU - Gahl, William A.
AU - Gomez, Victor
AU - Greco, Marcella
AU - Greeley, Christy
AU - Greenbaum, Larry A.
AU - Grimm, Paul
AU - Hohenfellner, Katharina
AU - Holm, Teresa
AU - Hotz, Valerie
AU - Janssen, Mirian C.
AU - Kaskel, Frederick
AU - Magriço, Rita
AU - Nesterova, Galina
AU - Newsholme, Philip
AU - Niaudet, Patrick
AU - Rioux, Patrice
AU - Sarwal, Minnie M.
AU - Schneider, Jerry
AU - Topaloglu, Rezan
AU - Trauner, Doris A.
AU - Vaisbich, Maria Helena
AU - van den Heuvel, Lambertus P.
AU - Van't Hoff, William
N1 - Publisher Copyright:
© 2016 International Society of Nephrology
PY - 2016
Y1 - 2016
N2 - Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future.
AB - Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future.
KW - biomarker
KW - cell signaling
KW - chronic kidney disease
KW - cystinosin
KW - end-stage kidney disease
KW - rare kidney diseases
UR - http://www.scopus.com/inward/record.url?scp=84978123690&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84978123690&partnerID=8YFLogxK
U2 - 10.1016/j.kint.2016.01.033
DO - 10.1016/j.kint.2016.01.033
M3 - Article
C2 - 27181776
AN - SCOPUS:84978123690
SN - 0085-2538
VL - 89
SP - 1192
EP - 1203
JO - Kidney international
JF - Kidney international
IS - 6
ER -