HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.
J Nephrol
; 18(4): 447-51, 2005.
Article
em En
| MEDLINE
| ID: mdl-16245252
ABSTRACT
A 24-year-old male with end-stage renal disease (ESRD) and disproportionately high uric acid plasma concentration was admitted to our unit. After studying the patient's medical history, as well as that of the entire family, hyperuricemia was discovered in his brother, while microscopic examination of his brother's and mother's urine revealed abundant uric acid crystals. After performing purine metabolic studies, it was determined that the two siblings suffered from partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (Kelley-Seegmiller syndrome). This report highlights the importance of clinical awareness and a thorough examination of the patient's medical history for establishing an early diagnosis and commencing treatment for such rare inherited metabolic disorders to prevent renal failure.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hipoxantina Fosforribosiltransferase
/
Falência Renal Crônica
/
Síndrome de Lesch-Nyhan
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
J Nephrol
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2005
Tipo de documento:
Article