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23-10-2024 | Diazoxide | Case Report

The combination of next generation sequencing and technological devices allows a precision medicine approach in congenital hyperinsulinism: the case of a pregnant mother and the child she gave birth

Authors: Marina Valenzano, Antonella Peduto, Anna Comba, Claudia Menzaghi, Vincenzo Trischitta

Published in: Acta Diabetologica

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Excerpt

Congenital hyperinsulinism (CHI) is a heterogeneous disorder defined by severe, recurrent hypoglycaemia (serum glucose level < 60 mg/dl or 3.3 mmol/L) characterized by inappropriate secretion of endogenous insulin, which can be confirmed by measuring serum insulin, C-peptide and pro-insulin levels [1, 2]. The condition is rare, accounting for 1/30,000–50,000 live births. Two main histological forms of CHI are recognized: focal and diffuse Langherans islet cell hyperplasia [1, 2]. ABCC8 (encoding the beta-cell high-affinity sulfonylurea receptor, SUR1, a subunit of the KATP channel) and KCNJ11 (encoding the inwardly rectifying potassium channel, Kir6.2) are the genes most commonly involved [1]. In particular, ABCC8 loss-of-function mutations can be expressed as recessive forms, responsible for the majority of cases of diffuse and severe CHI, or as dominant forms, responsible for less severe phenotype [1]. Recessive forms usually do not respond to medical treatment, while dominant ABCC8 mutations are sensitive to diazoxide [1], a nondiuretic oral benzothiadiazine. Moreover, several patients with heterozygous ABCC8 mutations have been reported to present CHI in infancy and then to develop diabetes with age. Patients with CHI are generally macrosomic at birth, hypoglycaemia usually appears in the neonatal period and in half of them manifests with seizures. …
Literature
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go back to reference De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE (2020) Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat 41(5):884–905. https://doi.org/10.1002/humu.23995CrossRefPubMedPubMedCentral De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE (2020) Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat 41(5):884–905. https://​doi.​org/​10.​1002/​humu.​23995CrossRefPubMedPubMedCentral
Metadata
Title
The combination of next generation sequencing and technological devices allows a precision medicine approach in congenital hyperinsulinism: the case of a pregnant mother and the child she gave birth
Authors
Marina Valenzano
Antonella Peduto
Anna Comba
Claudia Menzaghi
Vincenzo Trischitta
Publication date
23-10-2024
Publisher
Springer Milan
Published in
Acta Diabetologica
Print ISSN: 0940-5429
Electronic ISSN: 1432-5233
DOI
https://doi.org/10.1007/s00592-024-02395-x

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