Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy
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Tashunka Taylor-Miller
Abstract
Background
Congenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI.
Case presentation
A term macrosomic male baby, birth weight 4.81 kg, born to non-consanguineous parents, presented on day 1 of life with severe and persistent hypoglycemia. The biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and progressively increased to 15 mg/kg/day to maintain normoglycemia. Sequence analysis identified compound heterozygous mutations in ABCC8 c.4076C>T and c.4119+1G>A inherited from the unaffected father and mother, respectively. The mutations are reported pathogenic. The patient is currently 7 months old with a sustained response to diazoxide.
Conclusions
Biallelic ABCC8 mutations are known to result in severe, diffuse, diazoxide-unresponsive hypoglycemia. We report a rare patient with CHI due to compound heterozygous mutations in ABCC8 responsive to diazoxide.
Author contributions: TTM wrote the first draft of the manuscript and made subsequent revisions until the final version. JH contributed to the genetic aspects and manuscript revisions. CP was involved with cohesion of GenBank reference sequence within the final manuscript. PM and YK were involved in the clinical management and manuscript revisions. DG oversaw the draft, revisions, and the final version. All the authors have approved the final version of the manuscript.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Conflicts of interest: None.
Ethics statement: Our research complies with all relevant national regulations and institutional policies. Informed consent was obtained from the legal guardians of the infant included in this research.
References
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Artikel in diesem Heft
- Frontmatter
- Reviews
- Occurrence and clinical management of nonalcoholic fatty liver disease in obesity patients: a literature review
- Does obesity have an effect on the ECG in children?
- Original Articles
- Factors associated with oxidative stress status in pediatric patients with type 1 diabetes mellitus
- The effect of concurrent resistance-aerobic training on serum cortisol level, anxiety, and quality of life in pediatric type 1 diabetes
- Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital
- Effect of high-dose vitamin D supplementation on antibody titers to heat shock protein 27 in adolescent girls
- Effects of whole-body vibration training on bone density and turnover markers in adolescent swimmers
- Estimations of total serum testosterone levels in Nigerian term neonates at birth using anogenital distance measurements
- Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing
- Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family
- Predictive value of thyroxine for prognosis in pediatric septic shock: a prospective observational study
- Case Reports
- First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia
- A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
- Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy
- Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution
- Corrigendum
- Corrigendum to: The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
