1.
Eur J Pediatr
; 167(8): 957-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17891542
RESUMO
We describe the case of a 1-year-old boy with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. At his first visit to the hospital, he was diagnosed with hyperuricemia and irreversible renal failure. The misssense mutation Asp185Gly (554A>G) was identified in exon 8 of his HPRT gene, and this mutation was inherited from the mother.
Assuntos
Hipoxantina Fosforribosiltransferase/genética , Síndrome de Lesch-Nyhan/genética , Mutação de Sentido Incorreto , Insuficiência Renal/genética , Alopurinol/uso terapêutico , Antimetabólitos/uso terapêutico , Creatinina/farmacocinética , Eletroforese em Gel de Ágar , Humanos , Lactente , Masculino , Taxa de Depuração Metabólica , Polimorfismo de Fragmento de Restrição , Ácido Úrico/farmacocinética
2.
Diabetes Res Clin Pract
; 57(2): 83-6, 2002 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12062851
RESUMO
The patient was an infant with transient hyperglycemia and decreased endogenous insulin secretion on intravenous glucose tolerance test (IVGTT) with the appearance of IA-2 autoantibodies (IA-2Ab), and we speculated that he was in the prediabetes stage. To our knowledge, this is the first case reported to be diagnosed as type 1 diabetes prior to clinical onset in Japan.
