Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas
-
Juliette Dupont
,
Carla Pereira
Abstract
Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes diagnosed within the first 6 months of life. Heterozygous activation mutations in KCNJ11, encoding the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channel, which acts as a key role in insulin secretion regulation, account for about half of the cases of PNDM. The majority of the patients represent isolated cases resulting from de novo mutations. Approximately 20% have associated neurologic features: the most severe form, which includes epilepsy and developmental delay, is called developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome and the milder form, with less severe developmental delay and without epilepsy, is designated intermediate DEND syndrome. Individuals with KCNJ11 mutations have been successfully transitioned from insulin to sulfonylurea (SU) therapy. Furthermore, there have been cases reported with variable improvement in neurological function following a successful switching. We describe a 12-year-old Portuguese girl with PNDM due to the previously reported R201C mutation in the KCNJ11 gene. Her medical history includes prematurity and moderate developmental delay. The mutation was inherited from her mother who has isolated PNDM. The patient was successfully transferred from insulin to SU, whereas her mother showed SU resistance. Despite good glycemic control, no improvements in the cognitive performance were verified. We present our experience in switching treatment from insulin to oral SUs in this family, and also discuss whether or not the girl’s developmental delay is related with the Kir6.2 mutation. To our knowledge, this is the first Portuguese patient reported with successful transition to SU treatment.
©2012 by Walter de Gruyter Berlin Boston
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Artikel in diesem Heft
- Review Articles
- Peptide YY in children: a review
- Brown adipose tissue: distribution and influencing factors on FDG PET/CT scan
- Mini Review
- Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism
- Original Articles
- Current normal values for TSH and FT3 in children are too low: evidence from over 11,000 samples
- Elevated serum ferritin and soluble transferrin receptor in infants with congenital hypothyroidism
- Implications of gastrointestinal hormones in the pathogenesis of obesity in prepubertal children
- Oxidative stress in obese children and its relation with insulin resistance
- Final height in elite male artistic gymnasts
- Expression of SOCS1, SOCS2, and SOCS3 in growth hormone-stimulated skin fibroblasts from children with idiopathic short stature
- Evaluation of skeletal maturity score for Korean children and the standard for comparison of bone age and chronological age in normal children
- Children and adolescent acceptability of a new device system to administer human growth hormone – a pilot study
- The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency
- Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns
- Prevention of bone loss in children receiving long-term glucocorticoids with calcium and alfacalcidol or menatetrenone
- Evaluation of serum kisspeptin levels in girls in the diagnosis of central precocious puberty and in the assessment of pubertal suppression
- Hypophosphatemia in small for gestational age extremely low birth weight infants receiving parenteral nutrition in the first week after birth
- Patient Reports
- Partial benefit of anastrozole in the long-term treatment of precocious puberty in McCune-Albright syndrome
- Palmoplantar keratoderma with growth hormone deficiency
- Propylthiouracil hepatitis: report of a case and extensive review of the literature
- Autonomous functioning thyroid nodule successfully treated with radioiodine in a 3 and a half-year-old boy
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- Warburg Micro syndrome
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- Letters to the Editor
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- The appropriate use of sensitive tests of hypothalamic-pituitary-adrenal-axis suppression
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