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
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