ORCID Profile
0000-0001-9891-7332
Current Organisations
Newcastle University
,
Newcastle Upon Tyne Hospitals NHS Foundation Trust
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Publisher: BMJ
Date: 08-2004
Publisher: Elsevier BV
Date: 03-2015
DOI: 10.1038/KI.2014.297
Abstract: 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.
Publisher: Wiley
Date: 19-09-2016
DOI: 10.1002/ANA.24736
Abstract: The m.3243A G MTTL1 mutation is the most common cause of mitochondrial disease yet there is limited awareness of intestinal pseudo‐obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A G‐related mitochondrial disease manifesting with IPO. In this large, observational cohort study, we assessed the clinical, molecular, and radiological characteristics of patients with genetically determined m.3243A G‐related mitochondrial disease, who presented with severe symptoms suggestive of bowel obstruction in the absence of an occluding lesion. Between January 2009 and June 2015, 226 patients harbouring the m.3243A G mutation were recruited to the Medical Research Council Centre Mitochondrial Disease Patient Cohort, Newcastle. Thirty patients (13%) presented acutely with IPO. Thirteen of these patients had a preceding history of stroke‐like episodes, whereas 1 presented 27 years previously with their first stroke‐like episode. Eight patients developed IPO concomitantly during an acute stroke‐like episode. Regression analysis suggested stroke was the strongest predictor for development of IPO, in addition to cardiomyopathy, low body mass index and high urinary mutation load. Poor clinical outcome was observed in 6 patients who underwent surgical procedures. Our findings suggest, in this common mitochondrial disease, that IPO is an under‐recognized, often misdiagnosed clinical entity. Poor clinical outcome associated with stroke and acute surgical intervention highlights the importance of the neurologist having a high index of suspicion, particularly in the acute setting, to instigate timely coordination of appropriate care and management with other specialists. Ann Neurol 2016 :686–692
Publisher: Oxford University Press (OUP)
Date: 17-07-2015
Publisher: Springer Science and Business Media LLC
Date: 23-10-2013
Publisher: Elsevier BV
Date: 10-2013
Publisher: EMBO
Date: 07-05-2018
Publisher: Wiley
Date: 07-02-2018
DOI: 10.1002/ACN3.532
Publisher: Oxford University Press (OUP)
Date: 25-11-2013
DOI: 10.1093/BRAIN/AWT321
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Andrew Schaefer.