X-linked recessive nephrolithiasis: presentation and diagnosis in children.
J Pediatr
; 132(5): 859-62, 1998 May.
Article
em En
| MEDLINE
| ID: mdl-9602200
ABSTRACT
We report a new X-linked recessive nephrolithiasis kindred. X-linked recessive nephrolithiasis is a recently described disease characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, chloride channel number 5. Screening individuals at risk with renal ultrasonography and measurement of urinary excretion of low molecular weight proteins and calcium will exclude boys without X-linked recessive nephrolithiasis kindred and identify boys likely to have the disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Cálculos Renais
/
Ligação Genética
/
Nefrocalcinose
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos