Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family
REVISTA MEDICA DE CHILE
| dc.creator | Pollak-C, Felipe | |
| dc.creator | Lagos-L, Marcela | |
| dc.creator | Santos-Martin, José Luis | |
| dc.creator | Poggi, Helena | |
| dc.creator | Urzúa-C, Abraham | |
| dc.creator | Rumié-C, Hana | |
| dc.date | 2021-08-23T22:48:25Z | |
| dc.date | 2022-07-08T20:19:04Z | |
| dc.date | 2021-08-23T22:48:25Z | |
| dc.date | 2022-07-08T20:19:04Z | |
| dc.date | 2017 | |
| dc.date.accessioned | 2023-08-23T00:21:39Z | |
| dc.date.available | 2023-08-23T00:21:39Z | |
| dc.identifier | 1150416 | |
| dc.identifier | 1150416 | |
| dc.identifier | https://hdl.handle.net/10533/250147 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8354837 | |
| dc.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. Keywords. Author Keywords:Maturity-Onset Diabetes of the Young; Type 2; glucokinase; mutation; autosomal dominant. KeyWords Plus:CHILDREN; PREVALENCE; GENETICS; MODY | |
| dc.description | Regular 2015 | |
| dc.description | FONDECYT | |
| dc.description | FONDECYT | |
| dc.language | eng | |
| dc.relation | handle/10533/111557 | |
| dc.relation | handle/10533/111541 | |
| dc.relation | handle/10533/108045 | |
| dc.relation | https://doi.org/10.4067/s0034-98872017000901203 | |
| dc.rights | Atribución-NoComercial-SinDerivadas 3.0 Chile | |
| dc.rights | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
| dc.rights | info:eu-repo/semantics/article | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.title | Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family | |
| dc.title | REVISTA MEDICA DE CHILE | |
| dc.type | Articulo | |
| dc.type | info:eu-repo/semantics/publishedVersion |