Cargando…

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 months of life. Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP) ) channel can lead to transient NDM (TNDM) or to permanent NDM (PNDM). A f...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gole, Evangelia, Oikonomou, Stavroula, Ellard, Sian, De Franco, Elisa, Karavanaki, Kyriaki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985388/ https://www.ncbi.nlm.nih.gov/pubmed/28943514 http://dx.doi.org/10.4274/jcrpe.5166

Ejemplares similares

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
por: Evliyaoğlu, Olcay, et al.
Publicado: (2018)

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes
por: Babiker, Tarig, et al.
Publicado: (2016)

Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome
por: Dahl, Amanda R., et al.
Publicado: (2018)

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
por: Ünal, Sevim, et al.
Publicado: (2016)

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk
por: Vedovato, Natascia, et al.
Publicado: (2016)

Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes
por: Staník, Juraj, et al.
Publicado: (2008)

Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation
por: Ahn, Sung Yeon, et al.
Publicado: (2015)

Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
por: Martins, Luísa, et al.
Publicado: (2015)

SUN-278 Neonatal Diabetes in an Infant with Heterozygous Mutation in KCNJ11 Gene
por: Kota, Archana, et al.
Publicado: (2019)

A novel mutation KCNJ11 R136C caused KCNJ11-MODY
por: Chen, Yaning, et al.
Publicado: (2021)

Psychiatric morbidity in children with KCNJ11 neonatal diabetes
por: Bowman, P., et al.
Publicado: (2016)

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study
por: Bowman, Pamela, et al.
Publicado: (2018)

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
por: Kapoor, R. R., et al.
Publicado: (2011)

Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy
por: Kocaay, Pınar, et al.
Publicado: (2016)

Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring
por: Lee, Ming Yeh, et al.
Publicado: (2023)

Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
por: Wu, Bo, et al.
Publicado: (2023)

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus
por: Yau, Daphne, et al.
Publicado: (2017)

Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure
por: Shaw, Natalie D., et al.
Publicado: (2009)

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
por: Cho, Ja Hyang, et al.
Publicado: (2017)

Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation
por: Ilkhanipoor, Homa, et al.
Publicado: (2013)

Successful transition from insulin to sulfonylurea, on second attempt, in a 24-year-old female with neonatal diabetes secondary to KCNJ11 gene mutation
por: Hajji, Sulaiman, et al.
Publicado: (2021)

First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment
por: Ioacara, Sorin, et al.
Publicado: (2017)

KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus
por: Haghvirdizadeh, Polin, et al.
Publicado: (2015)

Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice
por: Sachse, Gregor, et al.
Publicado: (2021)

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy
por: Schoeler, Natasha E., et al.
Publicado: (2015)

Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
por: De Franco, Elisa, et al.
Publicado: (2020)

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene
por: Gabbay, Monica, et al.
Publicado: (2017)

Visuomotor Performance in KCNJ11-Related Neonatal Diabetes Is Impaired in Children With DEND-Associated Mutations and May Be Improved by Early Treatment With Sulfonylureas
por: Shah, Reshma P., et al.
Publicado: (2012)

Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy
por: Chen, Ting, et al.
Publicado: (2018)

Mutational analysis of KCNJ11 in Chinese elderly essential hypertensive patients
por: Li, Jia-Yue, et al.
Publicado: (2012)

Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes
por: Bowman, Pamela, et al.
Publicado: (2023)

Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in the KCNJ11 gene
por: Poon, Sarah Wing-yiu, et al.
Publicado: (2022)

Sulfonylurea Therapy in Two Korean Patients with Insulin-treated Neonatal Diabetes due to Heterozygous Mutations of the KCNJ11 Gene Encoding Kir6.2
por: Kim, Min Sun, et al.
Publicado: (2007)

Successful Transition From Insulin to Sulfonylurea Therapy in a Patient With Monogenic Neonatal Diabetes Owing to a KCNJ11 P333L Mutation
por: Philla, Katherine Q., et al.
Publicado: (2013)

MON-121 Successful Transition from Insulin to Sulfonylurea for a 26 Year Old Female with Neonatal Diabetes Secondary to KCNJ11 Gene Mutation
por: Ali, Sulaiman, et al.
Publicado: (2019)

Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome
por: Van Ert, Hanora A., et al.
Publicado: (2016)

Sulfonylurea Use During Entire Pregnancy in Diabetes Because of KCNJ11 Mutation: A Report of Two Cases
por: Gaal, Zsolt, et al.
Publicado: (2012)

Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism
por: Hashemian, Somayyeh, et al.
Publicado: (2021)

A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma
por: Uchida, Noboru, et al.
Publicado: (2017)

The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in Northern Iran
por: Alidoust, L., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_dd61du8rp4i0lruthcru19kmu0