Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
-
Kelly A. Hicks
,
Jake A. Kushner
Abstract
Although KCNJ11 mutations of the KATP channel within the β cell are known to prevent insulin secretion and cause permanent neonatal diabetes mellitus, the genotype-phenotype correlation continues to be of clinical interest. We report the clinical outcomes in monozygotic twins with neonatal diabetes due to heterozygous mutations in KCNJ11 at R201H. The twins demonstrated concordant clinical outcomes after transitioning from insulin to oral sulfonylurea therapy at 4 months of age. Both twins remained on sulfonylurea therapy while achieving similar growth, development, and metabolic goals. They exhibit marked sensitivity to sulfonylurea therapy with current dosing at 0.05 and 0.06 mg/kg per day at age 5 years which deviates from the approximate maintenance dose of 0.4 mg/kg per day at the time of transition and subsequent follow-up. Metabolic control provided by low-dose sulfonylurea therapy is likely due to early age at transition from insulin to sulfonylurea therapy and possible preservation of endogenous insulin secretion.
References
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©2014 by Walter de Gruyter Berlin Boston
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Articles in the same Issue
- Masthead
- Masthead
- Editorials
- Editorial
- Consensus, guidelines and reviews
- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
- Original articles
- Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
- Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
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- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
- A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
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