Cargando…

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes

Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two sibling...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sousa-Santos, Francisco, Simões, Helder, Castro-Feijóo, Lidia, Rodríguez, Paloma Cabanas, Fernández-Marmiesse, Ana, Fiaño, Rebeca Saborido, Rego, Teresa, Carracedo, Ángel, Conde, Jesús Barreiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Endocrinologia e Metabologia 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118649/ https://www.ncbi.nlm.nih.gov/pubmed/30462810 http://dx.doi.org/10.20945/2359-3997000000077

Ejemplares similares

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)

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)

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

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

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

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

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

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)

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

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

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism
por: Wolschendorf, Robin, et al.
Publicado: (2023)

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

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)

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)

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

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)

SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
por: Ludwig, Karissa, et al.
Publicado: (2019)

Familial Focal Congenital Hyperinsulinism
por: Ismail, Dunia, et al.
Publicado: (2011)

Global Registries in Congenital Hyperinsulinism
por: Pasquini, Tai L. S., et al.
Publicado: (2022)

Syndromic forms of congenital hyperinsulinism
por: Zenker, Martin, et al.
Publicado: (2023)

Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism
por: Raskin, Julie, et al.
Publicado: (2022)

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation
por: Işık, Emregül, et al.
Publicado: (2019)

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)

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

A Case Series: Congenital Hyperinsulinism
por: Alaei, Mohammad Reza, et al.
Publicado: (2016)

Congenital Hyperinsulinism: Diagnosis and Treatment Update
por: Demirbilek, Hüseyin, et al.
Publicado: (2017)

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism
por: Galcheva, Sonya, et al.
Publicado: (2019)

Clinical practice guidelines for congenital hyperinsulinism
por: Yorifuji, Tohru, et al.
Publicado: (2017)

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
por: Tung, Joanna Yuet-ling, et al.
Publicado: (2020)

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
por: Joyce, Caroline M., et al.
Publicado: (2020)

Congenital hyperinsulinism: current trends in diagnosis and therapy
por: Arnoux, Jean-Baptiste, et al.
Publicado: (2011)

Congenital hyperinsulinism: current status and future perspectives
por: Yorifuji, Tohru
Publicado: (2014)

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism
por: Senniappan, Senthil, et al.
Publicado: (2013)

Nifedipine in Congenital Hyperinsulinism- A Case Report
por: Khawash, Papiya, et al.
Publicado: (2015)

Therapies and outcomes of congenital hyperinsulinism‐induced hypoglycaemia
por: Banerjee, I., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_6k69ckuemupc8j2r3dq2auqlpp