Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

2021 ◽  
Author(s):  
Kei Takasawa ◽  
Yuichi Miyakawa ◽  
Yoko Saito ◽  
Eriko Adachi ◽  
Tsunanori Shidei ◽  
...  
Keyword(s):  
Congenital Hyperinsulinism ◽  
Clinical Heterogeneity

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation

2017 ◽  
Vol 30 (4) ◽  
Author(s):  
Sonya Galcheva ◽  
Violeta Iotova ◽  
Sian Ellard ◽  
Sarah E. Flanagan ◽  
Irina Halvadzhiyan ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Index Patient ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Compound Heterozygosity ◽  
Clinical Heterogeneity ◽  
Intravenous Glucose ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Case Presentation ◽  
Compound Heterozygotes

AbstractBackground:Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novelCase presentation:The index patient is a 3-year-old boy with hypoglycaemic episodes presenting on the first day of life. HH was diagnosed and treatment with intravenous glucose and diazoxide was initiated. Currently he has normal physical and neurological development, with occasional hypoglycaemic episodes detected following continuous fasting on treatment with diazoxide. The first-born 8-year-old sibling experienced severe postnatal hypoglycaemia, generalised seizures and severe brain damage despite diazoxide treatment. The latter was stopped at 6-months of age with no further registered hypoglycaemia. Genetic testing showed that both children were compound heterozygotes for two novelConclusions:These

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene

2012 ◽  
Vol 76 (2) ◽  
pp. 312-313 ◽  
Author(s):  
Ritika R. Kapoor ◽  
Sarah E. Flanagan ◽  
Sian Ellard ◽  
Khalid Hussain
Keyword(s):  
Congenital Hyperinsulinism ◽  
Clinical Heterogeneity ◽  
Abcc8 Gene

Lanreotide therapy for congenital hyperinsulinism

2014 ◽  
Author(s):  
Dinesh Giri ◽  
Zoe Yung ◽  
Mo Didi ◽  
Senthil Senniappan
Keyword(s):  
Congenital Hyperinsulinism

Congenital hyperinsulinism due to SUR1 (ABCC8) mutation in newborn twins: improvement of clinical outcome after eight years follow-up

2015 ◽  
Author(s):  
Betul Ersoy ◽  
Nermin Tansug ◽  
Abdulkadir Genc ◽  
Deniz Kizilay ◽  
Semiha Kiremitci ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Congenital Hyperinsulinism

Assessing impact of the provision of accessible information to families with Congenital Hyperinsulinism (CHI)

2016 ◽  
Author(s):  
Lauren Trimarco ◽  
Indi Banerjee ◽  
Lindsey Rigby ◽  
Louise Bowden ◽  
Maria Salomon Estebanez ◽  
...  
Keyword(s):  
Congenital Hyperinsulinism ◽  
Accessible Information

Ketotic hypoglycaemia in children with transient congenital hyperinsulinism of infancy

2016 ◽  
Author(s):  
Dinesh Giri ◽  
Prashant Patil ◽  
Zoe Yung ◽  
Mohammed Didi ◽  
Senthil Senniappan
Keyword(s):  
Congenital Hyperinsulinism

Using CRISPR/Cas9gene editing to study the molecular genetics of congenital hyperinsulinism

2018 ◽  
Author(s):  
Preetha Purushothaman ◽  
Ahmad Aldossary ◽  
Ileana Guerrini ◽  
Stephen Hart ◽  
Khalid Hussain
Keyword(s):  
Molecular Genetics ◽  
Congenital Hyperinsulinism
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