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Lookup NU author(s): Dr Charlotte Alston, Dr Robert Pitceathly, Professor Bobby McFarlandORCiD, Dr Andrew Schaefer, Emeritus Professor Doug Turnbull, Professor Robert Taylor, Professor Grainne Gorman, Professor Michael Hanna
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We studied the extent and nature of renal involvement in a cohort of 117 adult patients with mitochondrial disease, by measuring urinary retinol-binding protein (RBP) and albumin; established markers of tubular and glomerular dysfunction, respectively. Seventy-five patients had the m.3243A>G mutation and the most frequent phenotypes within the entire cohort were 14 with MELAS, 33 with MIDD, and 17 with MERRF. Urinary RBP was increased in 29 of 75 of m.3243A > G patients, whereas albumin was increased in 23 of the 75. The corresponding numbers were 16 and 14, respectively, in the 42 non-m.3243A> G patients. RBP and albumin were higher in diabetic m.3243A>G patients than in nondiabetics, but there were no significant differences across the three major clinical phenotypes. The urine proteome (mass spectrometry) and metabonome (nuclear magnetic resonance) in a subset of the m.3243A > G patients were markedly different from controls, with the most significant alterations occurring in lysosomal proteins, calcium-binding proteins, and antioxidant defenses. Differences were also found between asymptomatic m.3243A>G carriers and controls. No patients had an elevated serum creatinine level, but 14% had hyponatremia, 10% had hypophosphatemia, and 14% had hypomagnesemia. Thus, abnormalities in kidney function are common in adults with mitochondrial disease, exist in the absence of elevated serum creatinine, and are not solely explained by diabetes.
Author(s): Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RDS, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG
Publication type: Article
Publication status: Published
Journal: Kidney International
Year: 2015
Volume: 87
Issue: 3
Pages: 610-622
Print publication date: 01/03/2015
Online publication date: 10/09/2014
Acceptance date: 10/07/2014
ISSN (print): 0085-2538
ISSN (electronic): 1523-1755
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/ki.2014.297
DOI: 10.1038/ki.2014.297
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