Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease

Abstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.

摘要 慢性疾病与罕见病患者的临床照护工作复杂度极高，一方面由于对这类疾病认知匮乏，导致早期精准诊断难以实现；另一方面还需开展有时复杂度高、成本高昂的专项检查。除此之外，即便已有可用的治疗方案，患者也难以获得充足的治疗支持，同时提升患者与家属对疾病的认知及治疗依从性也存在诸多阻碍。肾病性胱氨酸贮积症（Nephropathic cystinosis）即属于此类疾病。本文作者所在团队作为此类患者的专属照护中心已逾二十载，在此基础上提出了一套随访方案。该方案经临床应用后有效提升了照护质量，采用多学科协作模式，涵盖医师、护士、心理学家、营养师及社会工作者提供的专业照护服务。本文各章节将客观详述如何开展以下工作：覆盖诊断阶段全流程、向患者及其家属或监护人告知病情，同时阐述疾病与治疗的特殊性、对患者及家庭生活的影响、心理与社会问题的干预方案，以及药物与饮食指导规范。该方案可适配其他伴有肾脏受累的罕见病患者的随访工作。本方案旨在覆盖尽可能多的参与此类患者随访工作的专业人员，为制定国家级统一随访方案夯实基础，同时充分兼顾各病例的个体特殊性。