Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus
-
Ranjit I. Kylat
,
Rajan Senguttuvan
Abstract
Although hyperglycemia is common in neonates, especially preterm infants, a diagnosis of neonatal diabetes mellitus (NDM) is rarely made. NDM can be permanent (45%), transient (45%) or syndromic (10%). Of the 95% of identifiable mutations for NDM, methylation defects in 6q24, KCNJ11, ABCC8, and INS account for the majority. Two cases of transient NDM in extremely preterm, 24 weeks’ gestational age (GA) triplets, due to a missense mutation c.685G>A in the KCNJ11 gene are presented. Both patients were successfully transitioned from insulin to Glyburide (Glibenclamide) at 2 months of age. Comprehensive genetic testing with targeted next-generation sequencing and 6q24 methylation analysis helps identify monogenic diabetes early, thereby improving metabolic and glycemic control when patients with potassium channel mutations are started on sulfonylurea (SU) treatment.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- Imaging methods for bone mass evaluation during childhood and adolescence: an update
- Original Articles
- Risk factors for overweight and obesity in children aged 2–6 years
- Copy number variations in “classical” obesity candidate genes are not frequently associated with severe early-onset obesity in children
- Trends in the prevalence of extreme obesity among Korean children and adolescents from 2001 to 2014
- Plasma but not serum brain-derived neurotrophic factor concentration is decreased by oral glucose tolerance test-induced hyperglycemia in children
- Environmental and genetic determinants of two vitamin D metabolites in healthy Australian children
- Evaluation of vitamin D prophylaxis in 3–36-month-old infants and children
- Possible effects of neonatal vitamin B12 status on TSH-screening program: a cross-sectional study from Turkey
- Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism
- Hyperandrogenism in adolescent girls: relationship with the somatotrophic axis
- Plasma kisspeptin and ghrelin levels in puberty variant cases
- Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India
- Short Communication
- Provider variability in the initial diagnosis and treatment of congenital hypothyroidism
- Case Reports
- Giant parathyroid adenoma associated with severe hypercalcemia in an adolescent patient
- Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus
- Pseudohypoaldosteronism types I and II: little more than a name in common
- Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy
Artikel in diesem Heft
- Frontmatter
- Review
- Imaging methods for bone mass evaluation during childhood and adolescence: an update
- Original Articles
- Risk factors for overweight and obesity in children aged 2–6 years
- Copy number variations in “classical” obesity candidate genes are not frequently associated with severe early-onset obesity in children
- Trends in the prevalence of extreme obesity among Korean children and adolescents from 2001 to 2014
- Plasma but not serum brain-derived neurotrophic factor concentration is decreased by oral glucose tolerance test-induced hyperglycemia in children
- Environmental and genetic determinants of two vitamin D metabolites in healthy Australian children
- Evaluation of vitamin D prophylaxis in 3–36-month-old infants and children
- Possible effects of neonatal vitamin B12 status on TSH-screening program: a cross-sectional study from Turkey
- Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism
- Hyperandrogenism in adolescent girls: relationship with the somatotrophic axis
- Plasma kisspeptin and ghrelin levels in puberty variant cases
- Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India
- Short Communication
- Provider variability in the initial diagnosis and treatment of congenital hypothyroidism
- Case Reports
- Giant parathyroid adenoma associated with severe hypercalcemia in an adolescent patient
- Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus
- Pseudohypoaldosteronism types I and II: little more than a name in common
- Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy
