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.
Highlights
Nephropathic cystinosis (NC) (OMIM 219800) is a rare, autosomal, recessive disease with an incidence of 1: 100.00-200,000 live births,[1] due to mutations in the CTNS cystinosine-encoding gene, cystine protein-carrier from cell lysosome to cytosol.[2]
We developed in our service a multidisciplinary care system for patients with NC, to improve treatment compliance and quality of life of those involved, which is significantly compromised by the impact of clinical manifestations and cystinosis management
Growth deficiency in NC patients is usually higher compared to other nephropathies, so nutritional treatment aims at optimizing weight gain.[27]
Summary
Nephropathic cystinosis (NC) (OMIM 219800) is a rare, autosomal, recessive disease with an incidence of 1: 100.00-200,000 live births,[1] due to mutations in the CTNS cystinosine-encoding gene, cystine protein-carrier from cell lysosome to cytosol.[2]. Hypercalciuria improves with the correction of metabolic acidosis; and there is rarely a need to use hydrochlorothiazide because it worsens hypokalemia, making it necessary to increase potassium replacement These patients have no tendency to develop nephrocalcinosis or nephrolithiasis, since they present citraturia and bicarbonaturia. The caloric and protein requirement is calculated according to the DRIs. Growth deficiency in NC patients is usually higher compared to other nephropathies, so nutritional treatment aims at optimizing weight gain.[27] it often requires follow-up with an endocrinologist to define the need for growth hormone replacement therapy. In patients under risk and having exhausted all possible approaches and interventions with families related to treatment compliance, we refer the patient to judicial follow-up
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
