Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.
Arch Dis Child
; 78(6): 552-4, 1998 Jun.
Article
em En
| MEDLINE
| ID: mdl-9713013
ABSTRACT
Mild hyperglycaemia is a common finding during minor illness in children. The differential diagnosis includes maturity onset diabetes of the young (MODY), which can be a difficult diagnosis to make clinically. As most genes resulting in MODY have been identified, it is possible to make a firm diagnosis using mutation detection. A case is reported of a 4 year old girl in whom a diagnosis of MODY2 was established by the finding of a heterozygous missense mutation in exon 7 of the glucokinase gene, resulting in the substitution at codon 259 of alanine by threonine (A259T). Observations from other glucokinase families suggest that hyperglycaemia in this child is likely to be stable and will not require intensive medical follow up, whereas other forms of MODY (1, 3, and 4) might carry a different prognosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diabetes Mellitus Tipo 2
/
Glucoquinase
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article