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DIABETES MELLITUS CAUSED BY A MUTATION OF GLUCOKINASE GENE. REPORT OF AN AFFECTED FAMILY

Diabetes Mellitus por mutación en el gen de Glucokinasa. Caso Clínico

dc.contributoren-US
dc.contributores-ES
dc.creatorPollak C, Felipe; PUC
dc.creatorLagos L, Marcela; laboratorio biología molecular, PUC
dc.creatorSantos M, José; Depto de Nutrición, Diabetes y Metabolismo Facultad de Medicina, PUC.
dc.creatorPoggi, Helena; laboratorio biología molecular, PUC
dc.creatorUrzúa C, Abraham; laboratorio biología molecular, PUC
dc.creatorRumié C, Hana; Unidad de Endocrinología Pediátrica, Complejo Asistencial Dr.Sótero del Rio
dc.date2017-09-29
dc.date.accessioned2019-11-11T18:27:26Z
dc.date.available2019-11-11T18:27:26Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6053
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/111142
dc.descriptionMaturity-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.en-US
dc.descriptionMaturity-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.es-ES
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dc.languagespa
dc.publisherRevista Médica de Chilees-ES
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dc.sourceRevista Médica de Chile; Vol. 145, núm. 9 (2017): SEPTIEMBRE 2017es-ES
dc.source0034-9887
dc.subjectDiabetes Mellitus, Type 2; Glucokinase; Mutationen-US
dc.subjectDiabetes Mellitus, Type 2; Glucokinase; Mutationes-ES
dc.titleDIABETES MELLITUS CAUSED BY A MUTATION OF GLUCOKINASE GENE. REPORT OF AN AFFECTED FAMILYen-US
dc.titleDiabetes Mellitus por mutación en el gen de Glucokinasa. Caso Clínicoes-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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