Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.
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 micromol/l), twice that of controls (154+/-41 micromol/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 < or =50 ml/min was still low (11.5+/-0.2%) compared with controls (18.4+/-5.1%). The 17 normouricaemic children (185+/-37 micromol/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.
Purine Research Laboratory, UMDS Guy's Hospital, London, UK.
M B
MB
McBride
S
S
Rigden
G B
GB
Haycock
N
N
Dalton
W
W
Van't Hoff
L
L
Rees
G V
GV
Raman
F
F
Moro
C S
CS
Ogg
J S
JS
Cameron
H A
HA
Simmonds
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006073:Gout / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D007676:Kidney Failure, Chronic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D014527:Uric Acid / Q000378:metabolism
D014527:Uric Acid