Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico

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 glyc...

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Autores principales:	Pollak C.,Felipe, Lagos L.,Marcela, Santos M.,José L., Poggi,Helena, Urzúa C.,Abraham, Rumié C.,Hana
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2017
Materias:	Maturity-Onset Diabetes of the Young Type 2 glucokinase mutation autosomal dominant
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000901203
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spelling	oai:scielo:S0034-988720170009012032017-12-07Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínicoPollak C.,FelipeLagos L.,MarcelaSantos M.,José L.Poggi,HelenaUrzúa C.,AbrahamRumié C.,Hana Maturity-Onset Diabetes of the Young Type 2 glucokinase mutation autosomal dominant 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.145 n.9 20172017-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000901203es10.4067/s0034-98872017000901203
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Maturity-Onset Diabetes of the Young Type 2 glucokinase mutation autosomal dominant
spellingShingle	Maturity-Onset Diabetes of the Young Type 2 glucokinase mutation autosomal dominant Pollak C.,Felipe Lagos L.,Marcela Santos M.,José L. Poggi,Helena Urzúa C.,Abraham Rumié C.,Hana Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico
description	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.
author	Pollak C.,Felipe Lagos L.,Marcela Santos M.,José L. Poggi,Helena Urzúa C.,Abraham Rumié C.,Hana
author_facet	Pollak C.,Felipe Lagos L.,Marcela Santos M.,José L. Poggi,Helena Urzúa C.,Abraham Rumié C.,Hana
author_sort	Pollak C.,Felipe
title	Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico
title_short	Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico
title_full	Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico
title_fullStr	Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico
title_full_unstemmed	Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico
title_sort	diabetes mellitus por mutación en el gen de glucokinasa. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2017
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000901203
work_keys_str_mv	AT pollakcfelipe diabetesmellituspormutacionenelgendeglucokinasacasoclinico AT lagoslmarcela diabetesmellituspormutacionenelgendeglucokinasacasoclinico AT santosmjosel diabetesmellituspormutacionenelgendeglucokinasacasoclinico AT poggihelena diabetesmellituspormutacionenelgendeglucokinasacasoclinico AT urzuacabraham diabetesmellituspormutacionenelgendeglucokinasacasoclinico AT rumiechana diabetesmellituspormutacionenelgendeglucokinasacasoclinico
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Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico

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