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Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children
M B McBride1, S Rigden, G B Haycock
1Purine Research Laboratory, UMDS Guy's Hospital, London, UK.
Insights
Familial juvenile hyperuricaemic nephropathy (FJHN) is a genetic kidney disorder. Early detection through screening is crucial as hyperuricemia can occur without renal disease in affected children, and treatment may slow disease progression.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Familial juvenile hyperuricaemic nephropathy (FJHN) is a rare genetic disorder.
- It is characterized by early onset, hyperuricemia, gout, and familial renal disease.
- A low fractional excretion of uric acid (FEur) is a hallmark of FJHN.
Purpose of the Study:
- To investigate the clinical and biochemical characteristics of FJHN in children.
- To determine the prevalence of hyperuricemia and renal dysfunction in affected children.
- To highlight the importance of early screening and intervention in FJHN kindreds.
Main Methods:
- Studied 34 apparently healthy children and 2 propositi from FJHN kindreds.
- Measured plasma urate levels, glomerular filtration rate (GFR), and fractional excretion of uric acid (FEur).
- Compared findings with healthy controls.
Main Results:
- 17 asymptomatic children had hyperuricemia (mean plasma urate 368+/-30 micromol/l), twice that of controls.
- Of these, 11 had renal dysfunction, severe in 5.
- Hyperuricemia was present without renal disease in 42% of affected children.
- FEur remained low in hyperuricemic children, even with impaired GFR.
Conclusions:
- FJHN exhibits dominant inheritance with an absence of the typical child/adult FEur difference.
- Hyperuricemia can occur in children with FJHN without evident renal disease.
- Early allopurinol treatment may slow progression to end-stage renal failure, emphasizing the need for family screening.
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 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.
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