Pre-operative anesthesia management of a child patient with Cystinosis
Department of Anesthesiology, Faculty of Medicine, Karabuk University, Karabuk, Turkey.
Research Article
World Journal of Biology Pharmacy and Health Sciences, 2024, 17(01), 057–060.
Article DOI: 10.30574/wjbphs.2024.17.1.0526
Publication history:
Received on 19 November 2023; revised on 02 January 2024; accepted on 05 January 2024
Abstract:
Cystinosis is an autosomal recessive lysosomal storage disease caused by CTNS gene mutation, characterized by abnormal accumulation of cysteine amino acid. Its prevalence is approximately between 1:100,000 and 1:200,000. It may affect internal organs such as the cornea, bone marrow, thyroid, liver and kidneys. It is divided into three groups: infantile nephropathic, juvenile nephropathic and ocular cystinosis.
There are limited reports in the literature regarding the peroperative management of these patients. We wanted to focus on the peroperative anesthesia management of our patient who was diagnosed with cystinosis and was planned to undergo emergency testicular torsion surgery.
Keywords:
Cystinosis; Anesthesia management; Perioperative care; Lysosomal Storage Diseases
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