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Title: The genetic basis of benign familial haematuria
Author: Makanjuola, Akinwale David
ISNI:       0000 0004 2670 5535
Awarding Body: University of London
Current Institution: King's College London (University of London)
Date of Award: 2008
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Benign familial haematuria (BFH) is an inherited renal disorder characterised by the presence of haematuria and the absence of progressive renal dysfiinction. Analysis of renal biopsies from affected individuals has shown that typically the only abnormality is widespread thinning of the glomerular basement membrane (GEM) visible on electron microscopy (EM). Thinning of the GBM has also been observed as the sole abnormality in patients with nonfamilial (isolated) haematuria, resulting in the diagnostic term thin basement membrane disease (TBMD). It is possible that some patients with benign familial haematuria have normal basement membranes, while others have thin basement membranes. The predominance of TBMD in patients with BFH has led some authors to use the terms interchangeably, but there are also some patients with thin basement membrane who do not have a benign prognosis. Thus the precise relationship between an abnormally thin GBM, isolated haematuria and BFH remains unclear.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available