Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

• Published in: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia Vol. 35; no. 3; pp. 304 - 321
• Main Authors: Ariceta, Gema, Camacho, Juan Antonio, Fernández-Obispo, Matilde, Fernández-Polo, Aurora, Gamez, Josep, García-Villoria, Judit, Lara Monteczuma, Enrique, Leyes, Pere, Martín-Begué, Nieves, Oppenheimer, Federico, Perelló, Manel, Morell, Guillem Pintos, Torra, Roser, Santandreu, Anna Vila, Güell, Ana
• Format: Journal Article
• Language: English; Spanish
• Published: Spain Elsevier 01.05.2015
• Subjects: Adherence; Adolescent; Adult; Amino Acid Transport Systems, Neutral - deficiency; Amino Acid Transport Systems, Neutral - genetics; Comprehensive Health Care - standards; Corneal Diseases - diagnosis; Corneal Diseases - etiology; Corneal Diseases - therapy; Cysteamine; Cysteamine - therapeutic use; Cystinosis; Cystinosis - complications; Cystinosis - diagnosis; Cystinosis - genetics; Cystinosis - therapy; Disease Management; Early Diagnosis; Endocrine System Diseases - diagnosis; Endocrine System Diseases - etiology; Endocrine System Diseases - therapy; Fanconi syndrome; Genetic Counseling; Humans; Interdisciplinary Communication; Kidney Failure, Chronic - etiology; Kidney Failure, Chronic - prevention & control; Kidney Failure, Chronic - therapy; Kidney Transplantation; Nervous System Diseases - diagnosis; Nervous System Diseases - etiology; Nervous System Diseases - therapy; Patient Education as Topic; Quality of Life; Self Care; Transition; Transition to Adult Care - standards; White blood cell (WBC) cystine levels
• ISSN: 2013-2514; 1989-2284
• DOI: 10.1016/j.nefroe.2015.06.010

Cystinosis is a rare lysosomal systemic disease that mainly affects the kidney and the eye. Patients with cystinosis begin renal replacement therapy during the first decade of life in absence of treatment. Prognosis of cystinosis depends on early diagnosis, and prompt starting and good compliance with cysteamine treatment. Kidney disease progression, extra-renal complications and shorter life expectancy are more pronounced in those patients that do not follow treatment. The objective of this work was to elaborate recommendations for the comprehensive care of cystinosis and the facilitation of patient transition from paediatric to adult treatment, based on clinical experience. The goal is to reduce the impact of the disease, and to improve patient quality of life and prognosis. Bibliographic research and consensus meetings among a multidisciplinary professional team of experts in the clinical practice, with cystinotic patients (T-CiS.bcn group) from 5 hospitals located in Barcelona. This document gathers specific recommendations for diagnosis, treatment and multidisciplinary follow-up of cystinotic patients in the following areas: nephrology, dialysis,renal transplant, ophthalmology, endocrinology, neurology, laboratory, genetic counselling,nursing and pharmacy. A reference document for the comprehensive care of cystinosis represents a support tool for health professionals who take care of these patients. It is based on the following main pillars: (a) a multi-disciplinary approach, (b) appropriate disease monitoring and control of intracellular cystine levels in leukocytes, (c) the importance of adherence to treatment with cysteamine, and (d) the promotion of patient self-care by means of disease education programmes. All these recommendations will lead us, in a second phase, to create a coordinated transition model between paediatric and adult care services which will contemplate the specific needs of cystinosis.