Τίτλος:
Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms. In this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes. Genetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A. © 2020 2020 Walter de Gruyter GmbH, Berlin/Boston.
Συγγραφείς:
Vlachopapadopoulou, E.-A.
Dikaiakou, E.
Fotiadou, A.
Sifianou, P.
Tatsi, E.B.
Sertedaki, A.
Kanaka-Gantenbein, C.
Michalacos, S.
Περιοδικό:
Journal of Pediatric Endocrinology and Metabolism
Εκδότης:
De Gruyter Open Ltd
Λέξεις-κλειδιά:
hepatocyte nuclear factor 4alpha; hepatocyte nuclear factor 4; HNF4A protein, human, Article; case report; causal attribution; clinical article; exon; family history; female; gene mutation; genetic screening; genetic variability; glycemic control; heterozygote; HNF4A gene; human; infant; male; non insulin dependent diabetes mellitus; persistent hyperinsulinemic hypoglycemia of infancy; Sanger sequencing; adult; genetic variation; genetics; hyperinsulinism; hypoglycemia; mother; newborn; persistent hyperinsulinemic hypoglycemia of infancy; pregnancy, Adult; Congenital Hyperinsulinism; Female; Genetic Testing; Genetic Variation; Hepatocyte Nuclear Factor 4; Humans; Hyperinsulinism; Hypoglycemia; Infant, Newborn; Male; Mothers; Pregnancy
DOI:
10.1515/jpem-2020-0302
