Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.

Autor: Quinlivan R; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: r.quinlivan@ucl.ac.uk., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square London, UK., Pula S; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK., Pain A; Department of Acute and General Medicine, Stoke Mandeville Hospital, Mandeville Road, Aylesbury UK., Brain H; Department of Acute and General Medicine, Stoke Mandeville Hospital, Mandeville Road, Aylesbury UK., Scopes G; University of Buckingham, Stoke Mandeville, Aylesbury, UK., Gjika F; University of Buckingham, Stoke Mandeville, Aylesbury, UK., Ahmadouk N; Department of Acute and General Medicine, Stoke Mandeville Hospital, Mandeville Road, Aylesbury UK., Manole A; Department of neurogenetics, UCL Institute of Neurology, National hospital for Neurology and Neurosurgery, UK., Houlden H; Department of neurogenetics, UCL Institute of Neurology, National hospital for Neurology and Neurosurgery, UK.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 49-53. Date of Electronic Publication: 2023 Dec 06.
DOI: 10.1016/j.nmd.2023.11.012
Abstrakt: Acute rhabdomyolysis (AR) leading to acute kidney injury has many underlying etiologies, however, when the primary trigger is exercise, the most usual underlying cause is either a genetic muscle disorder or unaccustomed intense exercise in a healthy individual. Three adult men presented with a history of exercise intolerance and episodes of acute renal impairment following intense exercise, thought to be due to AR in the case of two, and dehydration in one. The baseline serum CK was mildly raised between attacks in all three patients and acutely raised during attacks in two of the three patients. Following referral to a specialized neuromuscular centre, further investigation identified very low serum urate (<12 umol/L). In all three men, genetic studies confirmed homozygous mutations in SLC2A9, which encodes for facilitated glucose transporter member 9 (GLUT9), a major regulator of urate homeostasis. Hereditary hypouricaemia should be considered in people presenting with acute kidney injury related to intense exercise. Serum urate evaluation is a useful screening test best undertaken after recovery.
Competing Interests: Declaration of Competing Interest The authors declare no conflicts of interest.
(Copyright © 2023. Published by Elsevier B.V.)
Databáze: MEDLINE
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