Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene
Journal of the Korean Society of Pediatric Nephrology
;
: 86-90, 2003.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ácido Úrico
/
Alopurinol
/
Ácido Aspártico
/
ADN Complementario
/
Mutación Missense
/
Hiperuricemia
/
Diagnóstico Precoz
/
Lesión Renal Aguda
/
Glicina
/
Hipoxantina Fosforribosiltransferasa
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Society of Pediatric Nephrology
Año:
2003
Tipo del documento:
Artículo
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