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FJHNFamilial Juvenile Hyperuricemic Nephropathy
References in periodicals archive ?
It is postulated that exons 4 and 5 of the human UMOD gene, coding for the calcium-binding epidermal growth factor-like domain, are of high importance for the protein's properties because frequent mutations reported in these exons are associated with MCKD2 and FJHN.
162-164) Wolf et al (163) when investigating 11 different families found mutation C744G to segregate in both FJHN and MCKD2 unrelated patients and this is suggestive of a founder effect being spread around Europe.
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.