Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene
Journal of the Korean Society of Pediatric Nephrology
;
: 86-90, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-115882
ABSTRACT
An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was determined to have partial hypoxanthine-guanine phosphoribosyl transferase(HPRT) deficiency. The molecular genetic analysis revealed a missense mutation in the patient's HPRT gene. By sequencing the patient's cDNA, we identified an A-to-G transition at nucleotide 239, resulting in the replacement of Aspartate with Glycine at amino acid 80 in the HPRT. To our knowledge, this mutation has not previously been reported. Our patient is now being placed on allopurinol therapy, and has had no problem since. Partial HPRT deficiency has been known to cause recurrent acute renal failure without the phenotypic features of Lesch-Nyhan syndrome. Therefore, we think that early diagnosis and treatment are very crucial in preventing acute renal failure.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ácido Úrico
/
Alopurinol
/
Ácido Aspártico
/
DNA Complementar
/
Mutação de Sentido Incorreto
/
Hiperuricemia
/
Diagnóstico Precoce
/
Injúria Renal Aguda
/
Glicina
/
Hipoxantina Fosforribosiltransferase
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Society of Pediatric Nephrology
Ano de publicação:
2003
Tipo de documento:
Artigo
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