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Familial juvenile hyperuricemia nephropathy type 2
- ... kidney disease Uromodulin storage disease ... Bleyer AJ, Hart TC. Genetic factors associated with gout and hyperuricemia. Adv Chronic Kidney Dis. 2006 Apr;13(2):124-30. doi: 10.1053/j.ackd.2006. ...
- ... Familial juvenile hyperuricemic nephropathy 2 ... MT. Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. Am J Kidney Dis. 2011 Nov; ...
- ... deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency Hypoxanthine phosphoribosyltransferase deficiency Juvenile gout, choreoathetosis, mental retardation syndrome Juvenile hyperuricemia syndrome Lesch- ...