Diabetes mellitus por mutación en el gen de glucokinasa: caso clínico / Diabetes mellitus caused by a mutation of glucokinase gene: report of an affected family
Rev. méd. Chile
;
145(9): 1203-1207, set. 2017. tab, graf
Artículo
en Español
| LILACS
| ID: biblio-902608
ABSTRACT
Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose. Subsequently, continuous glucose monitoring at 4 months of age revealed 47% of tissue glucose levels above 140 mg/dl, with fasting glucose levels between 120 and 166 mg/dl. The genetic analysis revealed a previously reported mutation in heterozygous state of the GCK gene (c.148C>T; p.His50Tyr). This mutation was also identified in more than one affected relative in the last two generations, with a transmission pattern suggestive of dominant inheritance. GCK gene sequencing led to a correct molecular diagnosis of MODY 2 while bioinformatic analysis indicated the possible molecular causes of the enzyme dysfunction. The knowledge of the molecular diagnosis allowed an adequate medical treatment for this disease.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Diabetes Mellitus Tipo 2
/
Glucoquinasa
/
Mutación
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2017
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Pontificia Universidad Católica de Chile/CL
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