Nurse’s role in the diagnosis of Fabry disease: experience report
DOI:
https://doi.org/10.62827/eb.v23i2.4003Keywords:
Alpha-Galactosidase; nursing; rare diseases.Abstract
Objective: report the experience of the nurse's role in diagnosing Fabry disease. Methods: experience report, carried out between December 2023 and March 2024. The experience takes place in a private health institution, specialized in caring for chronic kidney patients, located in southern Brazil. Results: All kidney patients, when starting follow-up at the health institution, are candidates for testing for Fabry disease. The responsible nurse works in the following activities: registration in the Rare Disease Diagnosis Support Program, training for collection; request and collect material for collection, collect material from the patient, guide the patient and their family throughout the process, including collecting the diagnosis. Conclusion: providing knowledge to patients and family members about the importance of investigating this condition is essential to reduce harm, starting treatment as soon as possible.
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