Jeevaratnam, P; (2013) Early manifestations of Anderson Fabry disease. Doctoral thesis , UCL (University College London).

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Abstract

This thesis examines some early renal and neurological manifestations in Anderson Fabry disease (AFD). First, estimating glomerular filtration rate in AFD using serum creatinine (Cr) based equations was assessed in 106 AFD patients. The Modification in diet in renal disease (MDRD) and the Chronic kidney disease epidemiology collaboration (CKD-EPI) equations had the least bias and were the best methods of estimating glomerular filtration rates in AFD patients with chronic kidney disease (CKD) stage 1 to 3. The monitoring of renal involvement in AFD use methods which assess glomerular function predominantly though there is evidence of renal tubular damage and atrophy on renal biopsy. We investigated possible urine markers of renal tubular dysfunction in AFD and 2 other proteins detectable in urine which have been shown to be markers of renal scarring and inflammation. Urine β-hexosaminidase (β-hex) and Monocyte chemoattractant protein-1 (MCP-1) were elevated in AFD patients compared with control demonstrating evidence of renal tubular involvement and possible renal inflammation. Finally we investigated cardiac autonomic function, cardiac neuroendocrine function, sweat function and symptoms related to neuropathic and autonomic function in an AFD cohort. There was little evidence of sweat dysfunction, cardiac autonomic or cardiac neuroendocrine dysfunction, though there is significant evidence of neuropathic pain and autonomic symptoms.

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