ISSN:
1432-198X
Keywords:
Key words: Juvenile gout
;
Hyperuricaemia
;
Familial renal disease
;
Allopurinol
;
Fractional urate clearance
;
Dominant genetic disease
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract. We studied 34 apparently healthy children and 2 propositi from kindreds with familial juvenile hyperuricaemic nephropathy (FJHN) – a disorder characterised by early onset, hyperuricaemia, gout, familial renal disease and a similarly low urate clearance relative to glomerular filtration rate (GFR) [fractional excretion of uric acid (FEur) 5.1±1.6%] in young men and women. In addition to the propositi, 17 asymptomatic children were hyperuricaemic – mean plasma urate (368±30 μmol/l), twice that of controls (154±41 μmol/l). Eight of them had a normal GFR (〉80 ml/min per 1.73 m2), and 11 renal dysfunction, which was severe in 5. The FEur in the 14 hyperuricaemic children with a GFR 〉50 ml/min was 5.0±0.5% and in the 5 with a GFR ≤50 ml/min was still low (11.5±0.2%) compared with controls (18.4±5.1%). The 17 normouricaemic children (185±37 μmol/l) had a normal GFR (〉80 ml/min) and FEur (14.0±5.3%). The results highlight the dominant inheritance, absence of the usual child/adult difference in FEur in FJHN and presence of hyperuricaemia without renal disease in 42% of affected children, but not vice versa. Since early allopurinol treatment may retard progression to end-stage renal failure, screening of all relatives in FJHN kindreds is essential.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004670050466
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