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In message <[log in to unmask]>, Robert Hill <[log in to unmask]> writes >Does anyone have a paediatric protocol for a bicarbonate load test? > >We are investigating a 4 year old who has an x-ray diagnosis of >osteopetrosis. The diagnosis which was made following a routine X-ray >of a fracture. The child is deaf but has none of the haematological >hallmarks of the lethal variant. Our routine investigations revealed a >suggestion of renal tubular acidosis which may indicate that this >patient is suffering from the milder form of osteopetrosis associated >with carbonic anhydrase deficiency: > >Serum bicarbonate(venous) 21.6 mmol/L (22 - 30) >Venous pH 7.354 >serum lactate 1.8 mmol/L (0.63 - 2.4) >Serum chloride 104 mmol/L (96 - 109) > >Urine pH 7.17 >Overnight culture of urine no significant growth >(This urine specimen was taken a week after the blood, unfortunately, >due to the difficulties encountered during phlebotomy > > >The text books suggest that a bicarbonate load test should help. >I understand the theory, but can anyone help with a protocol for the >bicarbonate load test which is practical in an uncooperative 4 year old? >I think that it is possible to measure red cell carbonic anhydrase >isoenzymes but nobody in the UK is listed as offering the service. Thanks to those who took the trouble to reply. I found the sugestions very helpful. I will post the results of the follow-up tests and perhaps put together a more detailed case report in due course. -- Robert Hill %%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%