4.7 Article

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

Related references

Note: Only part of the references are listed.
Review Endocrinology & Metabolism

Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review

Kevin Perge et al.

Summary: Maturity-Onset Diabetes of the Youth (MODY) diabetes is often misdiagnosed. This study reviewed 26 studies and found a monogenic association between hyperinsulinemic hypoglycemia (HH) and diabetes, with different genotype-phenotype correlations. This is important for pediatricians and obstetricians to be aware of.

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS (2022)

Article Endocrinology & Metabolism

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid

Nuria Camats et al.

Summary: This study aimed to identify PAX8 variants in patients with thyroid dyshormonogenesis and analyze them using in vitro functional studies. Variants in PAX8 were found in patients with variable phenotypes of thyroid dyshormonogenesis, with impaired transcriptional activity observed. Phenotypic variability was significant, but most patients presented with a normal eutopic thyroid gland and thyroid dyshormonogenesis.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Article Endocrinology & Metabolism

Genotype-phenotypecorrelation of KATPchannel gene defects causing permanent neonatal diabetes in Indian patients

Sundaramoorthy Gopi et al.

Summary: This study is the largest in India on neonatal diabetes mellitus patients, demonstrating the significance of screening K(ATP) channel gene mutations in permanent neonatal diabetes mellitus and the efficacy of sulfonylurea therapy for Indian patients with K-ATP-PNDM. Patients with KCNJ11 mutations showed higher success rates in therapy transfer compared to those with ABCC8 mutations.

PEDIATRIC DIABETES (2021)

Article Endocrinology & Metabolism

Long-Term Outcome and Treatment in Persistent and Transient Congenital Hyperinsulinism: A Finnish Population-Based Study

Jonna M. E. Mannisto et al.

Summary: The management of congenital hyperinsulinism (CHI) has improved over the years, with 21st century patients showing better outcomes in terms of treatment and long-term results. Compared to earlier diagnosed patients, those in the 21st century had lower rates of diabetes and pancreatic exocrine dysfunction, and more normal neurodevelopment.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Article Endocrinology & Metabolism

Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing

Norihiko Matsutani et al.

JOURNAL OF DIABETES INVESTIGATION (2020)

Article Endocrinology & Metabolism

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

Maria Guemes et al.

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS (2020)

Article Genetics & Heredity

Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia

Chris Worth et al.

ORPHANET JOURNAL OF RARE DISEASES (2020)

Article Endocrinology & Metabolism

Congenital Hyperinsulinism and Evolution to Sulfonylurea-responsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

Emregul Isik et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2019)

Review Genetics & Heredity

Congenital hyperinsulinism disorders: Genetic and clinical characteristics

Elizabeth Rosenfeld et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)

Review Pediatrics

Genetic characteristics of patients with congenital hyperinsulinism

Mary Ellen Vajravelu et al.

CURRENT OPINION IN PEDIATRICS (2018)

Article Endocrinology & Metabolism

Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation

Antonia Dastamani et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2017)

Article Endocrinology & Metabolism

Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets

Changhong Li et al.

DIABETES (2017)

Article Endocrinology & Metabolism

Clinical and genetic characterization of congenital hyperinsulinism in Spain

R. Martinez et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)

Article Endocrinology & Metabolism

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

Charles A. Stanley

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Genetics & Heredity

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

Maria Salomon-Estebanez et al.

ORPHANET JOURNAL OF RARE DISEASES (2016)

Review Endocrinology & Metabolism

Molecular mechanisms of congenital hyperinsulinism

Sofia A. Rahman et al.

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia

Raphael Del Roio Liberatore et al.

Diabetology & Metabolic Syndrome (2015)

Article Endocrinology & Metabolism

The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series

S. M. McGlacken-Byrne et al.

DIABETIC MEDICINE (2014)

Article Endocrinology & Metabolism

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

Ritika R. Kapoor et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

Jacques Beltrand et al.

DIABETES CARE (2012)

Article Endocrinology & Metabolism

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations

R. R. Kapoor et al.

DIABETOLOGIA (2011)

Article Endocrinology & Metabolism

Lasting F-18-DOPA PET Uptake after Clinical Remission of the Focal Form of Congenital Hyperinsulinism

Tohru Yorifuji et al.

HORMONE RESEARCH IN PAEDIATRICS (2011)

Article Endocrinology & Metabolism

Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy

C. Sempoux et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Article Genetics & Heredity

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

C. Bellanne-Chantelot et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Endocrinology & Metabolism

Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism

L. Damaj et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Medicine, Research & Experimental

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

Sara E. Pinney et al.

JOURNAL OF CLINICAL INVESTIGATION (2008)

Article Medicine, General & Internal

Chronic Antidiabetic Sulfonylureas In Vivo: Reversible Effects on Mouse Pancreatic β-Cells

Maria Sara Remedi et al.

PLOS MEDICINE (2008)

Article Biochemistry & Molecular Biology

Regulation of KATP channel expression and activity by the SUR1 nucleotide binding fold 1

Ricard Masia et al.

CHANNELS (2007)

Article Medicine, General & Internal

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

Ewan R. Pearson et al.

PLOS MEDICINE (2007)

Article Genetics & Heredity

Mutation Spectra of ABCC8 Gene in Spanish Patients with Hyperinsulinism of Infancy (HI)

Ana Fernandez-Marmiesse et al.

HUMAN MUTATION (2006)

Article Endocrinology & Metabolism

Long-term follow-up of 114 patients with congenital hyperinsulinism

T Meissner et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2003)

Article Medicine, Research & Experimental

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1

H Huopio et al.

JOURNAL OF CLINICAL INVESTIGATION (2000)