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.

Relato de experiência: abordagem multidisciplinar na anemia aplástica – desenvolvimento de um modelo de assistência ambulatorial

“…Transfusão de hemácias e plaquetas, assim como profilaxia antimicrobiana e antifúngica são indicadas conforme resultados de exames laboratoriais seriados e sintomatologia apresentada. 8 Uma vez que a assistência a esses pacientes é muito complexa, tanto pela raridade da doença, quanto pela gravidade das manifestações, o presente relato objetiva descrever um modelo de assistência multidisciplinar aos pacientes com anemia aplástica e seus familiares, que vem sendo desenvolvido no Outros aspectos abordados pela equipe multidisciplinar, amparada por literatura científica, 8,15 estão descritos no quadro 3.…”

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

“…Cysteamine eye drops may mitigate visual symptoms by dissolving corneal cystine crystals. Supportive treatment of renal Fanconi syndrome includes providing appropriate nutrition and substituting renal losses (these are crucial to allow satisfactory growth); correcting the electrolyte and metabolic disturbances, phosphorus, vitamin D, magnesium, carnitine and calcium replacement therapy; non-hormonal anti-inflammatory agents to increased reabsorption of sodium chloride, water and decreased urine output [19].…”

Temporary hemiepiphysiodesis for correction of genu valgum due to cystinosis: a preliminary interventional study in children

“…Bone deformities after cystinosis commonly as genu valgum or genu varus that are mainly as a result of rickets can be successfully managed by surgical approaches. 6 The treatment of genu valgum in cystinosis state can include surgical correction of deformity using osteotomy or growth modulation techniques by using various implants. 7 One of these techniques is the temporary hemiepiphysiodesis method, developed by Stevens in 2007.…”