Cargando…

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children (more than 3 years of age) but not in the neonatal...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sethi, Aashish, Foulds, Nicola, Ehtisham, Sarah, Ahmed, Syed Haris, Houghton, Jayne, Colclough, Kevin, Didi, Mohammed, Flanagan, Sarah E., Senniappan, Senthil
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711633/ https://www.ncbi.nlm.nih.gov/pubmed/31989990 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0106

Ejemplares similares

Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report
por: Abraham, Mary, et al.
Publicado: (2015)

An Evaluation of Growth Hormone and IGF-1 Responses in Neonates with Hyperinsulinaemic Hypoglycaemia
por: Senniappan, Senthil, et al.
Publicado: (2013)

Fluoxetine-Induced Hypoglycaemia in a Patient with Congenital Hyperinsulinism on Lanreotide Therapy
por: Giri, Dinesh, et al.
Publicado: (2016)

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia
por: Senniappan, Senthil, et al.
Publicado: (2015)

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
por: Islam, Sumaya, et al.
Publicado: (2021)

Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
por: Cappella, Michela, et al.
Publicado: (2015)

Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
por: Bloor, Samuel, et al.
Publicado: (2017)

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
por: Hopkins, Jasmin J, et al.
Publicado: (2022)

A case of severe neonatal transient hyperinsulinemic hypoglycaemia without identifiable risk factors: a case report
por: Osada, Asami, et al.
Publicado: (2022)

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management
por: Gϋemes, Maria, et al.
Publicado: (2020)

Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency
por: Giri, Dinesh, et al.
Publicado: (2017)

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia
por: Laver, Thomas W., et al.
Publicado: (2018)

A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma
por: Blackburn, James, et al.
Publicado: (2018)

HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response
por: Arya, V B, et al.
Publicado: (2014)

Diazoxide for Neonatal Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension
por: Newman-Lindsay, Shoshana, et al.
Publicado: (2022)

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia
por: Haliloğlu, Belma, et al.
Publicado: (2018)

A Combination of Nifedipine and OctreotideTreatment in an HyperinsulinemicHypoglycemic Infant
por: Durmaz, Erdem, et al.
Publicado: (2014)

A novel technique of Roux-en-Y gastric bypass reversal for postprandial hyperinsulinemic hypoglycaemia: A case report
por: Qvigstad, E., et al.
Publicado: (2016)

The hypoglycaemia error grid: A UK-wide consensus on CGM accuracy assessment in hyperinsulinism
por: Worth, Chris, et al.
Publicado: (2022)

Hypoglycaemia and neonatal brain injury
por: Boardman, James P
Publicado: (2014)

Role of maternal variables on the development of neonatal hypoglycaemia and influence of neonatal hypoglycaemia on performance of goat kids
por: Habibu, Buhari, et al.
Publicado: (2023)

Tumor suppressor p53 regulates insulin receptor (INSR) gene expression via direct binding to the INSR promoter
por: Sarfstein, Rive, et al.
Publicado: (2020)

Effect of Growth Hormone Therapy in Patients with Noonan Syndrome: A Retrospective Study
por: Apperley, Louise Jayne, et al.
Publicado: (2020)

The Role of INSR & Diabetes in Polycystic Ovarian Syndrome
por: KHAZAMIPOUR, Afrouz, et al.
Publicado: (2018)

Transcriptional Regulation of INSR, the Insulin Receptor Gene
por: Payankaulam, Sandhya, et al.
Publicado: (2019)

Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene
por: Pearson, Ewan R, et al.
Publicado: (2007)

INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report
por: Yu, Lu, et al.
Publicado: (2022)

Neonatal hypoglycaemia: learning from claims
por: Hawdon, Jane M, et al.
Publicado: (2017)

SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
por: Haidet, Jaime, et al.
Publicado: (2019)

Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia
por: Haris, Basma, et al.
Publicado: (2020)

Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective
por: Dastamani, Antonia, et al.
Publicado: (2022)

Epigenetic Changes in Neonates Born to Mothers With Gestational Diabetes Mellitus May Be Associated With Neonatal Hypoglycaemia
por: Kasuga, Yoshifumi, et al.
Publicado: (2021)

Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study
por: Maria, Güemes, et al.
Publicado: (2019)

Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience
por: Alsaffar, Hussain, et al.
Publicado: (2018)

Silent Crooke’s cell corticotroph adenoma of the pituitary gland presenting as delayed puberty
por: Giri, Dinesh, et al.
Publicado: (2017)

Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
por: Giri, Dinesh, et al.
Publicado: (2017)

Hyperinsulinemic Hypoglycemia – The Molecular Mechanisms
por: Nessa, Azizun, et al.
Publicado: (2016)

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations
por: Simpkin, Arabella, et al.
Publicado: (2014)

RS1799817 in INSR associates with susceptibility to polycystic ovary syndrome
por: Daghestani, Maha H.
Publicado: (2020)

CircINSR Regulates Fetal Bovine Muscle and Fat Development
por: Shen, Xuemei, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_t3401i5sb5efaqoa5k4tjniv6r