Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism.
Br J Rheumatol
; 33(4): 392-6, 1994 Apr.
Article
en En
| MEDLINE
| ID: mdl-8156315
ABSTRACT
A 20-day-old male infant presented with acute renal failure. Three weeks later he developed acutely swollen, hot, red joints and tophi in his hands and feet. The serum uric acid was 2.2 mmol/l (normal 0.13-0.23 mmol/l) and the urinary oxypurine/creatinine ratio was 2.26 mmol (normal < 1.5 mmol). Complete deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) in intact erythrocytes confirmed Lesch-Nyhan syndrome. Neurological development was delayed and self-mutilation was observed at 22 months. Acute renal failure secondary to crystal nephropathy and tophaceous gout are unusual presenting features of this rare condition. This child also had transient neonatal hypothyroidism, which is not a recognized manifestation of the syndrome.
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Bases de datos:
MEDLINE
Asunto principal:
Lesión Renal Aguda
/
Hipotiroidismo
/
Síndrome de Lesch-Nyhan
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Br J Rheumatol
Año:
1994
Tipo del documento:
Article