Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystinosis is a rare autosomal recessive inherited disorder of amino acid metabolism. Little is known of the affects of general anaesthesia on the disease (Tobias 1993) and complications relating to anaesthesia have not been previously reported. Infantile cystinosis presents as progressive renal failure and the Fanconi syndrome and metabolic bone disease often develop. We describe the case of a child who presented with signs of apparent malignant hyperthermia (MH) under general anaesthesia and was treated with dantrolene. During a repeat 'trigger-free' general anaesthetic he developed a fever which responded to paracetamol. The metabolic effects of cystinosis and its similarity to MH will be discussed.
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PMID:Intraoperative hyperthermia in a paediatric patient with cystinosis. 859 74