Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia.
Intern Med
; 54(12): 1523-6, 2015.
Article
em En
| MEDLINE
| ID: mdl-26073243
ABSTRACT
A 15-year-old boy was referred to our department due to gout. The laboratory findings showed hyperuricemia with a decreased erythrocyte hypoxanthine phosphoribosyl transferase (HPRT) activity. The HPRT cDNA sequence was revealed to be 206A>T, which has not been previously reported. In addition, direct sequencing of genomic DNA showed the patient to possess four variants reported to be associated with hyperuricemia. This is the first case report of partial HPRT deficiency due to a novel HPRT mutation accompanied by variants associated with hyperuricemia. Combination treatment consisting of benzbromarone and febuxostat had a significant effect in reducing the urate level in our patient.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Mutação Puntual
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Hiperuricemia
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Gota
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Hipoxantina Fosforribosiltransferase
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article