HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.

CEN Case Reports
Eikan MishimaTakaaki Abe

Abstract

Unlike complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT) (i.e., Lesch-Nyhan syndrome), partial HPRT deficiency causes HPRT-related hyperuricemia without neurological symptoms. Herein, we describe a 22-year-old man without neurological symptoms that presented gout, hyperuricemia (serum urate level, 12.2 mg/dL), multiple renal microcalculi, and a family history of juvenile gout that was exhibited by his brother and grandfather. Genetic testing revealed a novel missense mutation, c.103G>A (p.V35M), in the HPRT1 gene, and biochemical testing (conducted using the patient's erythrocytes) showed that the patient retained only 12.4% HPRT enzymatic activity compared to that exhibited by a healthy control subject. We thus diagnosed the patient with HPRT-related hyperuricemia caused by partial HPRT deficiency. After his serum urate level was controlled via treatment with febuxostat, his gout did not recur. Thus, this study emphasizes that HPRT deficiency should be considered as a potential cause of familial juvenile gout, even in the absence of neurological symptoms.

References

Dec 11, 2007·Orphanet Journal of Rare Diseases·Rosa J Torres, Juan G Puig
Feb 24, 2010·Brain : a Journal of Neurology·H A JinnahUNKNOWN Lesch-Nyhan Disease International Study Group
Oct 29, 2010·Nature·Gonçalo R AbecasisGil A McVean
Dec 27, 2011·Current Rheumatology Reports·Rosa J TorresH A Jinnah
Aug 27, 2013·Brain : a Journal of Neurology·Rong FuUNKNOWN Lesch-Nyhan Disease International Study Group
Jul 26, 2014·Journal of the American Society of Nephrology : JASN·Yoichi TakeuchiTakaaki Abe
Dec 20, 2014·Journal of the American Society of Nephrology : JASN·Eikan MishimaTakaaki Abe
Dec 31, 2014·Nature Methods·Jianyi YangYang Zhang
Jan 1, 2015·Human Genome Variation·Yumi Yamaguchi-KabataMasao Nagasaki
Jun 12, 2019·Molecular Genetics and Metabolism·Annalisa MadeoIrène Ceballos-Picot

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Citations

Jun 17, 2020·The Tohoku Journal of Experimental Medicine·Eikan MishimaTakaaki Abe

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