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      Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults

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          Abstract

          Background

          Cysteamine has improved survival and prognosis in cystinosis. Increasing numbers of patients reach adulthood and face new challenges such as compliance that wanes over time. The aim of this study was to evaluate adherence to cysteamine treatment in a group of cystinotic patients in Spain in an attempt to identify potential therapy pitfalls and improve the overall care of affected individuals. Despite the impact of cysteamine on prognosis, there is a paucity of data regarding adherence.

          Method

          Thirty-four cystinotic patients (21 male) 38% ≥18 years were enrolled in a voluntary, anonymous survey. Replies were obtained from patients (15/34), mothers (11/34), fathers (4/34) and both parents (4/34).

          Results

          Patient age (median and interquartile range) at diagnosis was 1 year (0.57–1), and patient age at Cystagon® initiation was also 1 year (0.8–1.8). Sixteen (47%) were kidney transplant (KTx) recipients; six were retransplanted. Age at first KTx 10 years (8.7–13.7). Patient understanding of multiorgan involvement in cystinosis: 4.1 organs reported; eye 97% and kidney 91%. Cysteamine was given by mother (100%) and father (83%) in <11 year olds, or self-administered (94%) in ≥11 year olds. Four daily doses in 89% versus 56% in <11 year olds or ≥11 year olds, with fixed schedule in 94% versus 50% in <11 or ≥11 year olds and progressive loss of reminders over time. Furthermore, 44% complained of unpleasant smell. Motivation for treatment compliance was 100% versus 40% in <11 versus ≥11 year olds, respectively. Disease impact in patients <18 years is as follows: school (29%), social (14%), ‘feeling different’ (10%); in patients ≥18 years: ‘feeling different’ (62%), professional (39%) and job absenteeism (31%). Referring physician: paediatric nephrologist (94%) and nephrologist (63%) in <11 versus ≥11 year olds. Ophthalmological follow-up: 83% versus 38% in <11 versus ≥11 year olds. Patient opinion of physician expertise: paediatric nephrologist (94%) and nephrologist (44%). New treatment options (65%) and better information (42%) were demanded to improve adherence.

          Conclusion

          Treatment with Cystagon is effective in young patients. However, adherence diminishes over time in adolescents and adults despite disease impact. Strategies such as better information on the disease, patient self-care promotion and facilitated transition to adult healthcare services are required to improve compliance and the clinical management of cystinosis.

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          Most cited references32

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

          Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine. In order to determine long-term effects of this therapy, we enrolled 86 adult patients (mean age 26.7 years) diagnosed with nephropathic cystinosis, 75 of whom received cysteamine. Therapy was initiated at a mean age of 9.9 years with a mean duration of 17.4 years. By last follow-up, 78 patients had end-stage renal disease (mean age 11.1 years), 62 had hypothyroidism (mean age 13.4), 48 developed diabetes (mean age 17.1 years), and 32 had neuromuscular disorders (mean age 23.3 years). Initiating cysteamine therapy before 5 years of age significantly decreased the incidence and delayed the onset of end-stage renal disease, and significantly delayed the onset of hypothyroidism, diabetes, and neuromuscular disorders. The development of diabetes and hypothyroidism was still significantly delayed, however, in patients in whom therapy was initiated after 5 years of age, compared with untreated patients. The life expectancy was significantly improved in cysteamine-treated versus untreated patients. Thus, cysteamine decreases and delays the onset of complications and improves life expectancy in cystinosis. Hence, cysteamine therapy should be introduced as early as possible during childhood and maintained lifelong.
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            Cysteamine therapy for children with nephropathic cystinosis.

            We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51.3 mg per kilogram of body weight per day) for up to 73 months. This agent is known to be effective in depleting cells of cystine. In our study, the mean cystine depletion from leukocytes was 82 percent. A historical control group of 55 children received either ascorbic acid (27 children) or placebo (28). At age six, 2 of 17 controls had a serum creatinine level less than 1.0 mg per deciliter, as compared with 17 of 27 patients treated with cysteamine for at least one year (odds ratio, 12.8; 95 percent confidence interval, 2.1 to 33.9). At the end of the study, creatinine clearance was higher in the cysteamine group than in the control group (38.5 vs. 29.7 ml per minute per 1.73 m2; 95 percent confidence limits on the difference, 1.8 and 15.8), even though the cysteamine group was on average 1.4 years older than the control group. Cysteamine also improved growth; those in the cysteamine group between two and three years of age grew at 93 percent of the normal velocity, as compared with 54 percent in the control group. Fourteen percent of the patients could not tolerate the taste and smell of cysteamine. Concurrent controls treated in a blinded fashion with a placebo were not included in this study. With this limitation in mind, we conclude that oral cysteamine, by depleting cells of cystine, helps maintain renal glomerular function, improves growth, and constitutes the current treatment of choice for nephropathic cystinosis.
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              Cystinosis: the evolution of a treatable disease

              Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder’s systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients.
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                Author and article information

                Journal
                Nephrol Dial Transplant
                Nephrol. Dial. Transplant
                ndt
                ndt
                Nephrology Dialysis Transplantation
                Oxford University Press
                0931-0509
                1460-2385
                March 2015
                26 October 2014
                26 October 2014
                : 30
                : 3
                : 475-480
                Affiliations
                [1 ]Hospital Universitari Vall d’ Hebron , Barcelona, Spain
                [2 ]Hospital Universitario Cruces , Bilbao, Spain
                [3 ]Hospital Sant Joan de Déu , Barcelona, Spain
                [4 ]Hospital Universitari Clínic , Barcelona, Spain
                [5 ]Hospital Universitario 12 de Octubre , Madrid, Spain
                [6 ]Hospital Universitario Central de Asturias y Universidad de Oviedo , Oviedo, Spain
                [7 ]Hospital Universitario Virgen de la Salud , Toledo, Spain
                [8 ]Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela, Spain
                [9 ]Hospital Universitario Materno-Infantil Las Palmas , Las Palmas de Gran Canaria, Spain
                [10 ]Hospital Universitario Ntra. Sra. de la Candelaria , Santa Cruz de Tenerife, Spain
                [11 ]Hospital Universitario La Fe , Valencia, Spain
                [12 ]Hospital Universitario Dr Peset , Valencia, Spain
                [13 ]Hospital Universitario Miguel Servet , Zaragoza, Spain
                [14 ]Hospital Arquitecto Marcide , Ferrol, Spain
                [15 ]Hospital Universitario Virgen del Rocío , Sevilla, Spain
                [16 ]Hospital Universitario Materno-Infantil, Materno-Infantil Carlos Haya , Málaga, Spain
                [17 ]Complejo Hospitalario de Torrecárdenas , Almería, Spain
                [18 ]Hospital Universitario Virgen de Las Nieves , Granada, Spain
                [19 ]Hospital General de Albacete , Albacete, Spain
                [20 ]Hospital General Universitario de Alicante , Alicante, Spain
                Author notes
                Correspondence and offprint requests to: Gema Ariceta; E-mail: gariceta@ 123456vhebron.net
                Article
                gfu329
                10.1093/ndt/gfu329
                4339688
                25348508
                e5f6e781-86c1-4771-869f-f6ece7e6efc1
                © The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

                History
                : 22 July 2014
                : 18 September 2014
                Categories
                CLINICAL SCIENCE
                Chronic Kidney Disease

                Nephrology
                adherence,cysteamine,cystinosis,prognosis,transition
                Nephrology
                adherence, cysteamine, cystinosis, prognosis, transition

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