| Sub-title | |
| Author | E Farrugia |
| Abstract | A 24-year-old otherwise healthy male presented with left ureteric colic, which subsided spontaneously. Ultrasound kidneys and IVP were both normal. Investigations however revealed marked hypouricaemia (plasma uric acid 57 umol/l). 24-hour urinary urate excretion was markedly elevated at 7.2 mmol/day. The fractional excretion of urate was 55% (normal <10%). No other metabolic or renal tubular abnormalites were recorded. 1 year later, the patient spontaneously passed a 6 mm calculus from the left kidney. The stone was composed entirely of uric acid. Plasma uric acid at this time was again very low at 71 umol/l. A survey of both parents and two siblings revealed that the patients mother and sister had similar hypouricaemia (plasma uric acid 51 and 107 umol/l respectively), although they were entirely asymptomatic. The findings in this subjects may be accounted for by a nearly complete tubular defect in the renal reabsorptive transport mechanism of urate. This condition is probably transmitted as an autosomal dominant trait. This is the first report, to the best of our knowledge, of familial hypouricaemia, hyperuricosuria and uric acid kidney stones in the Maltese population. |
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| Journal | Malta Medical Journal |
| Volume | 15 Issue 1-2/suppl. 2003 |
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| Key words | case report, uric acid calculi, familial hypouricaemia |