Perhimpunan Reumatologi Indonesia
Indonesian Rheumatology Association

IJR Vol 1 No. 1; Familial juvenile gouty nephropathy

AMC Karema, JA Ongkowijaya, E Djuanita – Familial juvenile gouty nephropathy

Familial juvenile gouty nephropathy (FJGN) is an autosomal dominant renal disease characterized by hyperuricemia, gouty arthritis and decreased of renal function acquired at a young age. Ducan and Dixon reported this case in 1960 of a 19 year old with acute gouty arthritis, hyperuricemia, severe chronic renal failure, and shrinkage of both kidneys.1, 2 Gouty arthritis was found in 3.9 million patients in the U.S. clinics in 2002 with a male to female ratio range of 7 to 1 until 9 to 1.3, 4 In Indonesia, gouty arthritis is found mainly in the Minahasa, Toraja, and Batak ethnic groups. Approximately 3 to 6% of gouty patients have an onset before the age of 25 years.5 A study conducted by Rotty and Karema in 1999 revealed that the prevalence of hyperuricemia in young adults of the Minahasa ethnic group was approximately 34.4%.6 There are reports of FJGN cases in Hungary, China, Japan, and Polynesia.7 Familial juvenile gouty nephropathy is a disease caused by a genetic disorder, that is, a mutation of the gene responsible for uromodulin formation located in chromosome 16p11.2.8 This mutation causes hyperuricemia and decreased renal function. The clinical signs of the onset of FJGN that fi rst appeared during a young age/childhood are manifestations of gouty arthritis or hyperuricemia, progressive renal function deterioration and hypertension.8 The diagnosis of FJGN is made based on the history of initial symptoms, family history of hyperuricemia, clinical picture of the disease including signs of gouty arthritis, reduced excretion of uric acid in the urine, and elevated level of serum creatinine.7 The aim of the management of FJGN is to reduce the uric acid level while during the late stage is to manage the renal failure and hypertension.