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Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference

, : Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney International 89(6): 1192-1203

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.


PMID: 27181776

DOI: 10.1016/j.kint.2016.01.033

Other references

Grumbach, M.M.; Morishima, A.; Chu, E.H.Y., 1960: On the sex chromatin and the sex chromosomes in sexual anomalies in man Relation to origin of the sex chromatin. European Journal of Endocrinology 34(1 Suppla): S633-S644

Zdero C.; Bohlmann F.; Boldt P.E., 1991: Pseudoguaianolides and other constituents from hymenoxys linearifolium. The aerial parts of Hymenoxys linearifolium afforded, in addition to four known pseudoguaianolides, 12 new ones: a germacranolide, a guaianolide, five esterified glucopyranosides of 9-hydroxy-.gamma.=geraniol and two glucopyranosides esterified wi...

Puylaert, F.A., 1968: Un nouveau trichostrongyloide, Columbostrongylus schoutedeni g.n., sp.n., (Vermes-Nematoda), parasite de Tympanistria tympanistria Temm. et Knid. Columbostrongylys schoutedeni n.g., n.sp. from the intestine of Tympanistria tympanistria from the Ivory Coast is attached to the Trichostrongylidae and differs from the known Ornithostrongylinae by the presence of long, slender spicules united at...

Austin James A.J.; Taylor Frederick W.; Cagle Clinton D., 1989: Seismic stratigraphy of the central Tonga Ridge. Seismic stratigraphic analyses of single- and multichannel seismic reflection profiles from the central part of the Tonga arc system, SW Pacific, are used to interpret its geological evolution. On the central Tonga Ridge (a high-standing part of t...

Costa, R.M.; Silva, A.J., 2003: Mouse models of neurofibromatosis type I: Bridging the GAP. Neurofibromatosis type I (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, leading to a variety of abnormalities in cell growth and differentiation, and to learning disabilities. The protein encoded by NF1, neurofibromin...

Bell, R.L.; Davis, T., 1975: Granulomatous pericarditis. Journal of the Tennessee Medical Association 68(9): 719, 722-719, 722

Taylor, K.; Silke, B.; Riddell, J.G., 1996: Effect of propranolol on heart-rate variability in normal volunteers using standard time-domain statistics and a new non-linear parameter. British Journal of Clinical Pharmacology 41(5): 447P

Albinus, M.; Sewing, K.F., 1974: Acid base balance in relation to gastric acid secretion stimulated by histamine and penta gastrin in cats. Naunyn Schmiedeberg's Archives of Pharmacology 285(4): 325-335

Hanefeld, M.; Karasik, A.; Koehler, C.; Westermeier, T.; Chiasson, J-Louis., 2009: Metabolic syndrome and its single traits as risk factors for diabetes in people with impaired glucose tolerance: the STOP-NIDDM trial. The STOP-NIDDM trial was an international, double-blind, placebo-controlled randomised study in people with impaired glucose tolerance (IGT). They were treated with an alpha-glucosidase inhibitor, acarbose, to prevent diabetes; the overall number...

Richardson, D., 1985: A paperless microbiology laboratory. Mlo: Medical Laboratory Observer 17(2): 65-69