Cargando…

SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus

ABCC8 encodes the SUR-1 subunit of the ATP-sensitive potassium (K-ATP) channel on beta cells. Mutations in this gene are associated with K-ATP channel gain of function (diabetes mellitus) and loss of function (hyperinsulinism). We describe a family with a heterozygous variant of uncertain significan...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ludwig, Karissa, Woodhead, Helen, McGown, Ivan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Pediatric Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552806/ http://dx.doi.org/10.1210/js.2019-SUN-270

Ejemplares similares

SUN-273 Diazoxide Use to Limit Weight Gain and Reduce Appetite in a Normoglycaemic Child with Previous Congenital Hyperinsulinism
por: Ludwig, Karissa, et al.
Publicado: (2019)

Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
por: Arya, Ved Bhushan, et al.
Publicado: (2014)

SUN-269 Novel Mutation of the HNF1A Gene in a Patient with Congenital Hyperinsulinism
por: Marinescu, Andreea, et al.
Publicado: (2019)

Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism
por: Al Balwi, Rana, et al.
Publicado: (2021)

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
por: Chandran, Suresh, et al.
Publicado: (2013)

Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
por: Hussain, Suhaimi, et al.
Publicado: (2015)

Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy
por: Yen, Chi-Feng, et al.
Publicado: (2016)

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
por: Mouron-Hryciuk, Julie, et al.
Publicado: (2021)

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

Laparoscopic Surgery for Focal-Form Congenital Hyperinsulinism Located in Pancreatic Head
por: Wen, Zhe, et al.
Publicado: (2022)

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
por: Mooij, Christiaan F., et al.
Publicado: (2021)

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
por: Sousa-Santos, Francisco, et al.
Publicado: (2018)

Case report: Congenital hyperinsulinemia with ABCC8 gene mutations
por: Zhang, Jin, et al.
Publicado: (2022)

Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques
por: Martino, Mariangela, et al.
Publicado: (2022)

MON-270 Diagnostic Exome Sequencing in Children with Permanent Congenital Hypothyroidism
por: Kim, Jisun, et al.
Publicado: (2019)

A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
por: Park, Ji Sook, et al.
Publicado: (2016)

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene
por: Zhou, Yunguo, et al.
Publicado: (2023)

Sirolimus treatment of severe congenital hyperinsulinism
por: Amato, Lisa A, et al.
Publicado: (2015)

Successful Use of Intragastric Dextrose in a Unique Presentation of Congenital Hyperinsulinism
por: Gurnurkar, Shilpa, et al.
Publicado: (2021)

Neonatal hyperinsulinism with an ABCC8 mutation: A case report
por: Liu, Meng-Tong, et al.
Publicado: (2023)

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern
por: Sanguineti, Nora, et al.
Publicado: (2019)

Relative Expression of a Dominant Mutated ABCC8 Allele Determines the Clinical Manifestation of Congenital Hyperinsulinism
por: Shemer, Ruth, et al.
Publicado: (2012)

Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report
por: Molnár, Zsuzsanna, et al.
Publicado: (2017)

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
por: Wieland, Ilse, et al.
Publicado: (2022)

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events
por: Rosenfeld, Elizabeth, et al.
Publicado: (2021)

MON-080 Unusual Association Between Congenital Hyperinsulinism and Neurofibromatosis Type 1
por: Marinescu, Andreea S, et al.
Publicado: (2020)

Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9
por: Guo, Dongsheng, et al.
Publicado: (2017)

A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
por: Brady, Cassandra, et al.
Publicado: (2015)

SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism
por: Erkin-Cakmak, Ayca, et al.
Publicado: (2020)

Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant
por: Motte-Signoret, Emmanuelle, et al.
Publicado: (2022)

Natural history and neurodevelopmental outcomes in perinatal stress induced hyperinsulinism
por: Sigal, Winnie M., et al.
Publicado: (2022)

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

Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP
por: Ortiz, David, et al.
Publicado: (2015)

First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
por: Koufakis, Theocharis, et al.
Publicado: (2019)

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11
por: Hewat, Thomas I., et al.
Publicado: (2021)

Maternal and neonatal outcomes of macrosomic pregnancies
por: Weissmann-Brenner, Alina, et al.
Publicado: (2012)

Novel heterozygous deletion in the HNF1β gene - adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with a cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency and a uterine anomaly
por: Conwell, Louise S, et al.
Publicado: (2015)

Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation
por: Kiff, Sarah, et al.
Publicado: (2019)

SAT-272 A Phase 2 Comparison of a Stable Liquid Glucagon to Placebo for the Treatment of Congenital Hyperinsulinism
por: Thornton, Paul, et al.
Publicado: (2019)

SUN-270 The Exploding Pituitary - A Case of Atypical Meningitis
por: Alhaque, Abid, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_1u8a7tb03th51r9p701tibs8e3