Artikel ; Online: Congenital hyperinsulinism in Gran Canaria, Canary Isles.
2021 Band 95, Heft 2, Seite(n) 93–100
Abstract: Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to ... ...
| Abstract | Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to mutations in other genes (GCK, GLUD1, HADH, HNF1A, HNF4A, SLC16A1, UCP2, HK1), and with different syndromes. Materials and methods: Retrospective review of patients diagnosed with CH in this unit during the last 18 years (2001-2018). Genetic analysis included screening for 11 genes in genomic DNA from peripheral blood (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2, and SLC25A15). Objective: To carry out a clinical and genetic characterisation of the diagnosed cases of CH in Gran Canaria. Results: There have been 10 cases of persistent HC since 2001. Seven of them had mutations in the ABCC8 gene, one in the HNF4α gene, and in two patients, no pathogenic mutations were found in the analysed genes. Four patients presented with previously undescribed mutations. Pancreatectomy was performed in two of the cases. The minimum insulin value detected in hypoglycaemia was 6.81 µIU/mL. The incidence of persistent CH for Gran Canaria and Lanzarote is 1/15,614. Conclusions: Four patients had previously undescribed mutations. The most frequently affected gene was ABCC8. Pancreatectomy was required in 20% of the patients. An insulin value of ≥6.81 µIU/mL was observed in all patients at the time of diagnosis. The incidence of CH in Gran Canaria is high. |
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| Mesh-Begriff(e) | Congenital Hyperinsulinism/diagnosis ; Congenital Hyperinsulinism/epidemiology ; DNA ; Humans ; Insulin ; Mutation ; Retrospective Studies ; Spain/epidemiology |
| Chemische Substanzen | Insulin ; DNA (9007-49-2) |
| Sprache | Englisch |
| Erscheinungsdatum | 2021-07-10 |
| Erscheinungsland | Netherlands |
| Dokumenttyp | Journal Article |
| ZDB-ID | 2830901-7 |
| ISSN | 2341-2879 ; 2341-2879 |
| ISSN (online) | 2341-2879 |
| ISSN | 2341-2879 |
| DOI | 10.1016/j.anpede.2020.08.006 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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