Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Urology
; 97: 194-196, 2016 11.
Article
em En
| MEDLINE
| ID: mdl-27079129
ABSTRACT
Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism, due to deficiency of the enzyme HPRT (hypoxanthine-guanine phosphoribosyl transferase) and underlying HPRT gene mutations (over 300 mutations identified up to date). It is characterized by a wide range of neurological symptoms and signs (mainly a combination of spastic diplegia with choreoathetosis and an overall psychomotor redardation). Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Renal
/
Síndrome de Lesch-Nyhan
/
Nefrocalcinose
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article