Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6

The objective of this study was to describe the clinical characteristics of syndromic neonatal diabetes in a family with a GATA6 mutation. A girl, currently aged 12 years 3 months, was born with intrauterine growth retardation: weight 1600 g (–4.3 SDS) at term. After birth, foramen ovale and patent ductus arteriosus (PDA) were diagnosed by echocardiography. Diabetes was diagnosed on the 9th day after birth. Exocrine pancreatic insufficiency was clinically diagnosed at about 2 years of age and pancreatic agenesis was revealed later by magnetic resonance imaging. Her father had undergone surgery during infancy for PDA and had developed insulin dependent diabetes at 12 years of age. Ultrasound revealed a thin pancreas with normal length and anatomical structure. He has subclinical exocrine pancreatic insufficiency, low insulin needs and no late complications of diabetes up to the age of 40 years. Sequencing of GATA6 identified a heterozygous splicing mutation, 1136-2A>G, in the girl and her father. Testing of the paternal grandparents showed that the mutation was likely to have arisen de novo in the father. Identification of a GATA6 mutation explains the cardiac anomalies and diabetes in this family. This case highlights the marked intrafamilial variability of both exocrine and endocrine pancreatic phenotypes in patients with GATA6 mutations.This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site

Glycaemic control among Bulgarian children and adolescents with type 1 diabetes – an impact of the social status and the educational level of the parents

Achievement of optimal glycaemic control in children and adolescents with type 1 diabetes depends on the knowledge of the patients and their parents about the control of the disease and the family support. The aim of this study was to investigate the importance of the social standard of the families determined by the employment of the parents and their educational qualification on the control of diabetes. Two consecutive national multi-centre cross-sectional studies of patients with type 1 diabetes, aged 0–19 years, for HbA1c were conducted in 2012 and in 2014. The first study included 829 patients (422 boys, 407 girls), and the second - 498 patients; 281 patients participated in both studies. The patients whose parents are with primary education showed the highest level of HbA1c in both studies: 9.73% ± 2.38% and 9.27% ± 1.54% in the first, and the second study, respectively. The patients whose parents have university education achieved the best control: HbA1c is 8.45% ± 1.76% and 7.84% ± 1.24%, respectively. The cohorts of diabetic patients whose parents have secondary (p = 0.035) and university education (p < 0.001) showed significant reduction of HbA1c in the second study compared to the first one. The patients in families with unemployed parents or families in which only the mother is employed showed the highest levels of HbA1c. Our results underline the importance of the educational qualification and the social standard of the family for the proper control of this chronic disease

Glycemic control in type 1 diabetes mellitus among Bulgarian children and adolescents: the results from the first and the second national examination of HbA1c

The standardized hemoglobin A1c (HbA1c) test is an essential tool to evaluate the glycaemic control and the diabetes care. The aim of our study was to evaluate and compare the actual HbA1c level in a cohort of Bulgarian patients with type 1 diabetes aged 0–19 years in two consecutive national studies, in 2012 and 2014. We used a standardized method for HbA1c high performance liquid chromatography (HPLC). Тhe survey was conducted in 11 paediatric endocrinology practices in Bulgaria. Overall 829 patients with type 1 diabetes participated in the first study, 422 boys and 407 girls, aged 11.9 ± 4.2 years. The second study included 498 patients: 261 boys and 237 girls, aged 11.6 ± 4.1 years. The mean HbA1c level for the patients studied in 2014 (8.42 ± 1.69%) was significantly lower compared to that in the patients studied in 2012 (8.93 ± 1.98%, p < 0.001). Significantly more patients in the second study (36%) showed optimal control with HbA1c < 7.5% (p < 0.05) compared to those from the first one (24.9%). Teenagers in both studies had higher HbA1c levels compared to the other age groups: 9.19 ± 2.11% in 2012 and 8.8 ± 1.87% in 2014. We found significant differences in the HbA1c levels between the different centres in Bulgaria (from 7.92% to 9.95% in 2012 and from 7.42% to 9.13% in 2014). All age groups, except the teenagers showed improvement in the glycemic control in the second study as a result of continuous and structured education of the patients and their families

Possibilities and challenges of a large international benchmarking in pediatric diabetology-The SWEET experience

Aim: Despite the existence of evidence-based guidelines for the care of children with diabetes, widespread gaps in knowledge, attitude, and practice remain. The purpose of this paper is to present a review of benchmarking practices and results of this process within SWEET, moreover focusing on current challenges and future directions. Methods: Biannually, members electronically transfer de-identified clinic data for 37 parameters to the SWEET database. Each center receives benchmarking and data validation reports. Results: In 2015, 48 centers have contributed data for 20 165 unique patients (51.6% male). After exclusion for missing data 19 131 patients remain for further analysis. The median age is 14.2 years, with a median diabetes duration 4.8 years; 96.0% of patients have type 1, 1.1% type 2, and 2.9% other diabetes types. Data completeness has increased over time. In 2015, median HbA1c of all patients’ (diabetes type 1) medians was 7.8% (61.7 mmol/mol) with 39.1%, 41.4%, and 19.4% of patients having HbA1c &lt; 7.5% (58 mmol/mol), 7.5%-9% (58-75 mmol/mol) and &gt;9% (75 mmol/mol), respectively. Although HbA1c has been stable over time [7.7%-7.8% (60.7-61.7 mmol/mol)], there remains wide variation between centers. Fourteen centers achieve a median HbA1c &lt; 7.5% (58 mmol/mol). Conclusions: Our vision is that the participation in SWEET is encouraging members to deliver increasingly accurate and complete data. Dissemination of results and prospective projects serve as further motivation to improve data reporting. Comparing processes and outcomes will help members identify weaknesses and introduce innovative solutions, resulting in improved and more uniform care for patients with diabetes