Familial juvenile hyperuricaemic nephropathy

Synonyms

4

Overview

Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal dominant renal disease characterised by juvenile onset of hyperuricaemia, gouty arthritis, and progressive renal failure at an early age. 

Symptoms

• Hyperuricaemia in childhood
• Gout
• Kidney disease
• Hypertension 

Causes

The cause is unclear. Because the condition is inherited in autosomal-dominant fashion, a parent and relatives are frequently also affected with gout. the gene for FJH has been linked to chromosome 16.

Diagnosis

Laboratory studies:

Serum uric acid level is elevated.

Serum creatinine level is elevated.

Treatment

Standard therapies:

Allopurinol. if started early enough, will prevent patients from developping gout. It may also prevent or delay the worsening of renal failure. Probenecid may also be useful.

Investigational therapies:

Allopurinol analogues and other therapeutique agents that metaboliz uric acid are being developed.