Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported. We studied a cohort of 59 patients with permanent diabetes who received a diagnosis before 6 mo of age and who did not have a KCNJ11 mutation. ABCC8 gene mutations were identified in 16 of 59 patients and included 8 patients with heterozygous de novo mutations. A recessive mode of inheritance was observed in eight patients with homozygous, mosaic, or compound heterozygous mutations. Functional studies of selected mutations showed a reduced response to ATP consistent with an activating mutation that results in reduced insulin secretion. A novel mutational mechanism was observed in which a heterozygous activating mutation resulted in PNDM only when a second, loss-of-function mutation was also present.
Aims/hypothesis To assess the use of paediatric continuous subcutaneous infusion (CSII) under real-life conditions by analysing data recorded for up to 90 days and relating them to outcome.Methods Pump programming data from patients aged 0-18 years treated with CSII in 30 centres from 16 European countries and Israel were recorded during routine clinical visits. HbA 1c was measured centrally.Electronic supplementary material The online version of this article
Use of CAM in children with type 1 diabetes is less common than that documented for adults. Parents using CAM do not question the need for insulin. When using CAM, improved well-being and quality of life are important considerations where CAM can have a role.
OBJECTIVETo compare clinical characteristics and outcome of type 1 diabetes mellitus (T1DM) between patients with and without a clinically recognized eating disorder (ED).
RESEARCH DESIGN AND METHODSA total of 52,215 T1DM patients aged 8 to <30 years from the prospective diabetes data acquisition system DPV were analyzed. A total of 467 patients had an additional diagnosis of ED according to DSM-IV criteria (anorexia nervosa [AN], n = 141 [female: 94.3%]; bulimia nervosa [BN], n = 62 [90.3%]; and EDs not otherwise specified, including binge-eating disorder [EDNOS], n = 264 [74.2%]). Groups were compared using multivariable regression. Cox proportional hazard ratios were calculated for the association between ED and retinopathy.
RESULTSAfter adjustment for age, sex, and duration of diabetes, patients with ED revealed higher HbA 1c (no ED vs. AN, BN, or EDNOS, respectively: 8.29 6 0.01% [67.1 6 0.1 mmol/mol] vs. 8.61 6 0.15% [70.6 6 1.6 mmol/mol], 9.11 6 0.23% [76.1 6 2.5 mmol/mol], or 9.00 6 0.11% [74.9 6 1.2 mmol/mol]) and a higher rate of pathological insulin injection sites (48.4 vs. 64.3, 64.1, or 62.1%). Furthermore, ketoacidosis (5.7 6 0.1 vs. 12.1 6 2.1, 18.0 6 4.1, or 12.9 6 1.6 events per 100 person-years) and hospitalization (54.9 6 0.3 vs. 89.3 6 6.0, 132.0 6 12.7, or 91.0 6 4.4 per 100 person-years) were more common, and duration of hospital stay was longer (4.81 6 0.01 vs. 11.31 6 0.21, 18.05 6 0.48, or 8.44 6 0.13 days per year). All P values were <0.05. Patients with BN and EDNOS had a 2.5-fold (95% CI 1.3-4.8) and a 1.4-fold (0.8-2.3) higher risk for retinopathy, whereas AN patients had no increased risk (0.9 [95% CI 0.4-2.3]).
CONCLUSIONSDiabetes health care professionals should be aware of comorbid EDs in pediatric/ young-adult T1DM patients. An ED diagnosis is associated with worse metabolic control and higher rates of diabetes complications.
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