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

Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2019, Vol 11, Issue 1

Abstract

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases. Hyperinsulinaemic hypoglycaemia in infancy and diabetes in later life have been reported in patients with HNF1A, HNF4A and ABCC8 mutations. Herein, we present a child who was diagnosed with CHI at birth, then developed diabetes mellitus at the age of nine years due to a novel homozygous missense, p.L171F (c.511C>T) mutation in exon 4 of ABCC8. The parents and one sibling were heterozygous carriers, whilst a younger sibling who had transient neonatal hypoglycemia was homozygous for the mutation. The mother and (maternal) uncle, who was also heterozygous for the mutation, developed diabetes within their third decade of life. The preliminary results of sulphonylurea (SU) treatment was suggestive of SU responsiveness. Patients with homozygous ABCC8 mutations can present with CHI in the newborn period, the hyperinsulinism can show variability in terms of clinical severity and age at presentation and can cause diabetes later in life. Patients with homozygous ABCC8 mutations who are managed medically should be followed long-term as they may be at increased risk of developing diabetes after many years.

Authors and Affiliations

Emregül Işık, Hüseyin Demirbilek, Jayne A. Houghton, Sian Ellard, Sarah E. Flanagan, Khalid Hussain

Keywords

Related Articles

Cases Referred from the Turkish National Screening Program: Frequency of Congenital Hypothyroidism and Etiological Distribution

Objective: The aim of this study was to evaluate cases referred from the congenital hypothyroidism (CH) newborn screening program. Methods: Infants referred to Pediatric Endocrinology between 30.09.2015 - 01.04.2018 beca...

Neck Circumference to Assess Obesity in Preschool Children

Objective: Limited information is available about the use of neck circumference (NC) to assess obesity in preschool children. This study aims to provide NC percentiles and determine the cut-off levels of NC as a measure...

Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome

McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication....

Erratum

Karti Ö. Letter to the Editor Regarding “Assessment of Retinal Nerve Fiber Layer Thickness in Non-Diabetic Obese Children and Adolescents”. J Clin Res Pediatr Endocrinol 2018;10:91-91. The second reference of the articl...

Effect of Telehealth System on Glycemic Control in Children and Adolescents with Type 1 Diabetes

Objective: A close diabetes team-patient relationship is required for establishing satisfactory metabolic control. The purpose of this study was to investigate the effect of a telehealth system on diabetes control. Metho...

Download PDF file
  • EP ID EP543141
  • DOI 10.4274/jcrpe.galenos.2018.2018.0077
  • Views 173
  • Downloads 0

How To Cite

Emregül Işık, Hüseyin Demirbilek, Jayne A. Houghton, Sian Ellard, Sarah E. Flanagan, Khalid Hussain (2019). Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation. Journal of Clinical Research in Pediatric Endocrinology, 11(1), 82-87. https://europub.co.uk/articles/-A-543141