The paper reports a case of cystinosis with the involvement of kidneys, myocardium and liver in a female of 43. Late development of kidney failure might be due to a partial deficiency of the enzyme responsible for a cystine transport in the cell.
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Patient journey in cystinosis: focus on non-adherence and disease management.
Drugs Context
November 2024
Chiesi España S.A.U., Barcelona, Spain.
Background: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests potential actions for improvement.
Methods: In March 2022, six patients with nephropathic cystinosis treated with cysteamine, aged between 12 and 40 years as well as two caregivers, underwent standardized online interviews.
Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study.
Medicina (Kaunas)
October 2024
Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M1 7HR, UK.
Inherited metabolic disorders (IMDs), primarily cystinosis, Fabry disease, and methylmalonic acidemia (MMA), are genetic conditions that typically result in multi-organ disease manifestations. Kidney function progressively deteriorates in many cases, with patients eventually reaching end-stage kidney disease (ESKD) and requiring renal replacement therapy. Kidney transplantation has been deemed the optimal renal replacement therapy option to achieve long-term survival in patients with IMD.
View Article and Find Full Text PDFImmunomodulatory effects of cysteamine and its potential use as a host-directed therapy for tuberculosis.
Front Immunol
November 2024
Translational Research Unit, National Institute for Infectious Diseases Lazzaro Spallanzani-Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Objective: Cysteamine, a drug approved to treat cystinosis, has been proposed as a host-directed therapy for (Mtb) and SARS-CoV-2. The impact of cysteamine on the immune responses has not been fully investigated. We aimed to evaluate the immunomodulatory effects of cysteamine on peripheral blood mononuclear cells (PBMCs) using the purified protein derivative (PPD) as a recall antigen, and an unspecific stimulus as staphylococcal enterotoxin B (SEB).
View Article and Find Full Text PDFQuality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis.
Orphanet J Rare Dis
November 2024
Service of Pediatric Nephrology, Vall d'Hebron University Hospital, Barcelona, Spain.
Article Synopsis
- - The study investigates the psychological impact and quality of life (QoL) of caregivers for pediatric patients with nephropathic cystinosis, a serious chronic illness.
- - It involved nine mothers using standardized assessments for anxiety, depression, care burden, and QoL, revealing that 6 caregivers experienced anxiety/depression and 4 faced severe care burden.
- - Findings indicate that caregivers with lower anxiety and care burden reported better QoL, underscoring the need for strategies to alleviate stress and improve coping mechanisms for these families.
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