Searchable abstracts of presentations at key conferences in endocrinology

ea0005p79 | Diabetes, Metabolism and Cardiovascular | BES2003

Identification of the gene causing familial juvenile hyperuricaemic (Gouty) nephropathy

Stacey J , Turner J , Harding B , Kotanko P , Lhotta K , Puig J , Roberts I , Torres R , Thakker R

Gout, which is commonly associated with hyperuricaemia, affects 0.2% of the population. Hyperuricaemia has a heterogeneous aetiology that may be due to either over production and/or reduced renal clearance, of urate. In order to identify the mechanisms underlying reduced excretion of urate, we undertook positional cloning studies of familial juvenile hyperuricaemic nephropathy (FJHN), which is an autosomal dominant disorder characterised by hyperuricaemia, a low fractional ren...

ea0031p43 | Clinical biochemistry | SFEBES2013

High pulmonary artery pressure is associated with BNP and NT-proBNP in lowlanders acclimatising to high altitude

Mellor A , Hill N E , Boos C , Holdsworth D , Begley J , Stacey M , Hall D , Lumley A , Hawkins A , Foxen S , Hara J O' , Smith C , Ball S , Woods D

Background: We have previously demonstrated that the natriuretic peptides BNP and NT-proBNP rise with ascent to high altitude (HA). Both peptides are classically markers of congestive cardiac failure but have also recently been found to be associated with pulmonary hypertension at sea-level (SL). As pulmonary hypertension is central to the risk of high altitude pulmonary oedema we aimed to establish if there was any association between high pulmonary artery systolic pressure (...