Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up.

BACKGROUND: Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. CASE: In this report, we describe a 10-year-old girl who is heterozygous for a new missense mutation in the KCNJ11 gene and whose treatment was successfully switched from insulin to sulfonylurea (glibenclamide) therapy when she was one month old. 10-year data on a low-dose of glibenclamide monotherapy showed excellent glycaemic control with no reports of severe hypoglycaemia and microvascular complications. CONCLUSION: An early genetic diagnosis of neonatal diabetes mellitus is highly beneficial because early switch from insulin to sulfonylurea is safe, avoids unnecessary insulin therapy and promotes sustained improvement of glycaemic control on long-term follow-up.

First report on the nationwide incidence of type 1 diabetes and ketoacidosis at onset in children in Serbia: a multicenter study.

Data regarding incidence of type 1 diabetes (T1DM), as well as data on frequency and severity of diabetic ketoacidosis (DKA) at the time of T1DM diagnosis is of paramount importance for national and regional healthcare planning. The aim of present multicenter study was to provide the first report regarding nationwide annual incidence rates for T1DM in youth in Serbia, as well as prevalence of DKA at the time of diagnosis. Data on all pediatric patients with newly diagnosed T1DM was retrospectively collected from all 15 regional centers for pediatric diabetes in Serbia during the period 2007-2017. During the study period, average-standardized incidence of T1DM in youth < 19 years was 11.82/100,000, and 14.28/100,000 in 0-14 years age group, with an average yearly increase in incidence of 5.9%. High prevalence of DKA (35.1%) at the time of diagnosis was observed, with highest frequency in children aged < 5 years (47.2%). CONCLUSION: This is the first study reporting the nationwide incidence of T1DM and alarmingly high prevalence of DKA at diagnosis in youth in Serbia. The focus of public health preventive measures should be directed towards the preschoolers, considering the highest frequency and severity of DKA observed in this age group. What is Known: • Knowing regional T1DM incidence is of paramount importance for resource allocation and healthcare services provision. • DKA is the leading cause of acute mortality in youth with T1DM, and public health preventive educational measures could improve early diagnosis and reduce the frequency and severity of DKA at presentation. What is New: • Incidence of pediatric T1DM in Serbia is on the rise, with an average yearly increase of 5.9%. • Worryingly high prevalence of DKA (35.1%) at the time of T1DM diagnosis was observed, with the highest frequency of DKA in children aged < 5 years (47.2%).

Problems in diabetes managment in school setting in children and adolescents with type 1 diabetes in Serbia.

RESULTS: The obtained results show that not all children test blood glucose levels at school (50% of children in the 6-10-year-old age group and 67.3% in the age group over 11 years) and that not all children receive insulin at school (81.1% vs. 18.9%, and 57.7% vs. 42.3%, respectively). The frequency of severe hypoglycemia was 2.7% in children and 3.3% in adolescents. A high proportion of teachers did not have diabetes training. CONCLUSION: This brief report about problems in children and adolescents with type 1 diabetes at school in Serbia indicates what happens in the school setting and suggests how to improve control of this disease and facilitate the complete integration of children with diabetes at school. BACKGROUND/AIM: Children with type 1 diabetes typically spend one-third of the day in school and they should achieve the same level of diabetes management there as they do outside the school environment. The aim of this study was to identify problems in diabetes management in children with type 1 diabetes at school according to the perceptions reported by children and parents. METHODS: This cross-sectional survey was carried out at nine public hospitals in Serbia with a cohort of 6-18-year old children/adolescents. The parents were personally informed about the objectives of the survey and the necessity to involve their children. The self-reporting questionnaire included demographic information as well as some questions that helped to evaluate the general situation of children with type 1 diabetes at school.

Neonatal Outcome in Pregnancies with Autoimmune Myasthenia Gravis.

INTRODUCTION: Acquired autoimmune myasthenia gravis (MG) is an autoimmune process in which antibodies (AB) directed against the acetylcholine nicotinic receptor (AChR) cause weakness and fatigue of striated muscles. OBJECTIVES: The objective of this study was to determine the range of clinical manifestations in newborns with transient neonatal myasthenia (TNM). METHODS: 62 newborns with mothers who had autoimmune MG were followed by: anthropometric parameters, gestational age, gender, type of delivery completion, Apgar score (AS) in the first and fifth minute, and the emergence of TNM symptoms. RESULTS: For fourteen consecutive years, from a total of 98,000 infants, 62 (0.06%) were born to mothers with autoimmune MG. Four of them (6.4%) had symptoms of TNM. CONCLUSION: Newborns of mothers with MG manifest clinical features of TNM relative to stage of mother's illness. These newborns need monitoring until the seventh day of life.

Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634).

INTRODUCTION: The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas. CASE OUTLINE: This is a case report of 3-year-old boy from the MEN 2A family (the boy's father and grandmother and paternal aunt) in which cysteine substitutes for phenylalanine at codon 634 in exon 11 of the RET proto-oncogene, who underwent thyroidectomy solely on the basis of genetic information. A boy had no thyromegaly, thyroidal irregularities or lymphadenopathy and no abnormality on the neck ultrasound examination. The pathology finding of thyroid gland was negative for MTC. Two years after total thyroidectomy, 5-year-old boy is healthy with permanent thyroxine replacement. His serum calcitonin level is < 2 pg/ml (normal < 13 pg/ml), has normal serum calcium and parathyroid hormone levels and negative urinary catecholamines. Long-term follow-up of this patient is required to determine whether very early thyroidectomy improves the long-term outcome of PHPT. CONCLUSION: Children with familial antecedents of MEN 2A should be genetically studied for the purpose of determining the risk of MTC and assessing the possibilities of making prophylactic thyroidectomy before the age of 5 years.

Ketoacidosis at presentation of type 1 diabetes mellitus in children: a retrospective 20-year experience from a tertiary care hospital in Serbia.

UNLABELLED: Diabetic ketoacidosis (DKA) has significant morbidity and mortality and is common at diagnosis in children. The aim of this study was to determine the frequency and clinical characteristics of DKA over a 20-year period among children diagnosed with type 1 diabetes mellitus (T1DM) at University children's hospital in Belgrade, Serbia. The study population comprised of 720 patients (366 boys) diagnosed with type 1 diabetes aged <18 years between January 1992 and December 2011. Of all patients diagnosed with T1DM, 237 (32.9 %) presented with DKA. The majority had either mild (69.6 %) or moderate (22.8 %) DKA. Sixty (55.0 %) of all children under 5 years had DKA compared to sixty-two (20.9 %) in the 5- to 10-year-old group and one hundred fifteen (36.6 %) in the 11- to 18-year-old patients (p<0.01), while 2.5 % of the entire DKA cohort were in real coma. During the later 10-year period, children less often had DKA at diagnosis compared with the earlier 10-year period (28.0 vs. 37.4 %) (p<0.01), but the frequency of severe DKA was higher in the age group <5 year and in the age group >11 year during 2002-2011, compared with the earlier 10-year period (12.9 vs. 3.4 %, p<0.01 and 17.1 vs. 3.8 %, p<0.01). CONCLUSION: The overall frequency of DKA in children with newly diagnosed type 1 diabetes decreased over a 20-year period at our hospital. However, children aged <5 years and adolescents are still at high risk for DKA at diagnosis.

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation.

Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. We describe a female neonate who is a heterozygous for a new missense mutation, V252L, in the KCNJ11 gene and who has been successfully transitioned from insulin to sulfonylurea therapy.

Reference values of capillary blood saturation in neonates and its difference from pulse oximetry.

INTRODUCTION: Haemoglobin saturation is an obligatory oxygen parameter in the assessment of neonatal oxygenation. Although, pulse oximetry is currently one of the major methods in the determination of haemoglobin saturation, capillary blood saturation is still present in the diagnostic process. As well known, haemoglobin saturation value of capillary blood is insufficiently accurate, but not as much as the difference in relation to the values determined by pulse oximetry. Until now published studies have reported that capillary samples are obtained according to a protocol by the principle of free blood outflow, which is practically almost unachievable in the neonate. OBJECTIVE: Determination of the reference values of oxygen saturation (SCO2) and partial pressure (pcO2) of capillary blood by squeezing of the foot. The determination of difference between ScO2 and pulse oximetry (SpO2). METHODS: In 134 term newborns, we determined SpO2. Subsequently, we measured the values of ScO2 and pcO2 from the same extremity. While withdrawing a capillary sample, we exerted multiple squeezing of the foot. The mean value of ScO2, pcO2, SpO2 and the difference between ScO2 and SpO2 were determined. RESULTS: Mean ScO2 value was 80.5 +/- 8.5%, pcO2 was 48.2 +/- 11.4 mm Hg and SpO2 was 98 +/- 1.9%. The difference between ScO2 and SpO2 values was 17.5 +/- 8.6% (t = 23.568; p = 0.000). CONCLUSION: There is a statistically highly significant difference between the values of ScO2 and SpO2. Having the knowledge of this difference can increase the accuracy of clinical evaluation and further diagnostics. Comparison in up-to-now conducted studies suggests that the squeezing of the foot for obtaining a capillary sample in relation to free blood outflow does not bear any significant influence on the resultant values of haemoglobin saturation.

A case of new mutation in maturity-onset diabetes of the young type 3 (MODY 3) responsive to a low dose of sulphonylurea.

We describe a girl aged 10.5 years with hyperglycemia, whose mother and maternal father had insulin treated diabetes since adolescence. Using genetic analysis in mother and child, we identified identical new mutation of the HNF-1alpha sequence. Treatment with small doses of sulphonylurea was initiated and that therapy gave good results.