Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

• Published in: Pediatric nephrology (Berlin, West) Vol. 12; no. 5; pp. 357 - 364
• Main Authors: MCBRIDE, M. B, RIGDEN, S, SIMMONDS, H. A, HAYCOCK, G. B, DALTON, N, VAN'T HOFF, W, REES, L, RAMAN, G. V, MORO, F, OGG, C. S, CAMERON, J. S
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.06.1998; Springer Nature B.V
• Subjects: Adolescent; Adult; Biological and medical sciences; Child; Child, Preschool; Families & family life; Family medical history; Female; Gender differences; Gout - diagnosis; Gout - genetics; Gout - metabolism; Gout - physiopathology; Humans; Kidney diseases; Kidney Diseases - diagnosis; Kidney Diseases - genetics; Kidney Diseases - metabolism; Kidney Diseases - physiopathology; Kidney Failure, Chronic - diagnosis; Kidney Failure, Chronic - genetics; Kidney Failure, Chronic - metabolism; Kidney Failure, Chronic - physiopathology; Kidney stones; Male; Medical sciences; Metabolic diseases; Metabolism; Nephrology; Other metabolic disorders; Pediatrics; Pedigree; Plasma; Puberty; Purines and pyrimidines (gout, hyperuricemia...); Rheumatism; Uric acid; Uric Acid - metabolism; White people; Womens health; United Kingdom > UK; Human; Kidney disease; Urinary system disease; Glomerular filtration; Renal function; Parent; Gout; Diseases of the osteoarticular system; Metabolic diseases; Exploration; Uric acid; Medical screening; Hereditary; Kidney; Incidence; Concomitant disease; Hyperuricemia; Purine; Child
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s004670050466

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.