Familial juvenile hyperuricemic nephropathy

Definition:

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA), defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and FJHN is encompassed by it.

References:

[1]. Martina Zivná, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009 Aug;85(2):204-13. [Content Brief]

[2]. Nikhita Ajit Bolar, et al. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet. 2016 Jul 7;99(1):174-87. [Content Brief]

[3]. Sian E Piret, et al. Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. Hum Genet. 2011 Jan;129(1):51-8. [Content Brief]

[4]. T C Hart, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002 Dec;39(12):882-92. [Content Brief]

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