Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (AIRE) gene characterized by complex phenotypic characteristics discovered over years of follow-up. Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for AIRE R257X mutations. Results: This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis. Conclusions: APECED is a ‘‘multi-faced’’ disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome

Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (AIRE) gene characterized by complex phenotypic characteristics discovered over years of follow-up. Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for AIRE R257X mutations. Results: This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis. Conclusions: APECED is a ‘‘multi-faced’’ disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome

Physical Fitness in Children with Type 1 Diabetes Measured with Six-Minute Walk Test

Aim/Hypothesis. To examine whether children with DMT1 are less physically fit than healthy children and to assess whether an elevated level of HbA1c was associated with decreased physical fitness among children with diabetes. Methods. The study was conducted using case-control methodology. The cases were 100 children with T1DM, 7–17,9 years. Study subjects underwent a 6MWT, where distance measured, heart rate, and oxygen saturation was recorded. Results. Results of the 6MWT for children with T1DM and controls were 601.3 ± 86.1 meters versus 672.1 ± 60.6 meters, respectively (P<0.001). The cases were divided into two subgroups, one with HbA1c levels >8% and one with HbA1c <8%. Results for both groups were inferior to the controls (P<0.001). The posttest pulse rate in all subjects was higher than the pretest pulse rate (P<0.001). Pulse oxygen levels were lower than controls at the pretest measurement (P<0.001), and for both cases and controls, pulse oxygen levels decreased after test (P=0.004). However, the change in oxygen saturation did not differ between the groups (P=0.332). Conclusions. Children with T1D are less fit than matched controls. The level of HbA1c did not affect the physical fitness of children with T1D

McCune-Albright Syndrome in Infant with Growth Hormone Excess

Background: McCune-Albright is a rare syndrome, caused by mutation of the GNAS1 gene, and is characterized by an appearance of multiple endocrinopathies, most commonly premature puberty, polyostotic fibrous dysplasia and skin changes called cafe au lait macules. Case report: We present the case of a patient who is, to the best of our knowledge and after extensive review of literature, the youngest McCune-Albright syndrome patient with growth hormone excess, diagnosed at 8.9 months of age. An extensive diagnostic procedure was done upon the diagnosis. Hormonal assessment was performed and all hormone levels were within reference range, and an additional oral glucose suppression that noted the presence of growth hormone excess. Magnetic resonance imaging of the pituitary gland did not detect a tumor process. The genetic analysis of the GNAS1 gene from skin punch biopsy came back negative. Octreotide was administered as therapy for growth hormone excess at 9.8 months. After the introduction of therapy, we noted a decrease in growth rate from 29.38 to 16.6 cm/year. Conclusion: This case report emphasizes the lack of available data on treatment of growth hormone excess and follow-up in pediatric population and the need for further research

Clinical characteristics at presentation of type 1 diabetes mellitus in children younger than 15 years in Croatia

The aim of the study was to determine the clinical and bio- chemical characteristics of type 1 diabetes mellitus (DM) at presentation in children younger than 15 years in Croatia dur- ing a 9-year period, with special attention to diabetic ketoaci- dosis (DKA) incidence. The registered data set comprised blood glucose, pH, serum bicarbonate levels, and clinical symptoms at disease manifestation. During the study period, 692 children were diagnosed with type 1 DM. Polydipsia (96.7 % ), polyuria (96.05 % ), and weight loss (82.7 % ) were the most frequent symptoms anticipating disease detection. Enuresis was recorded in 11.55 % . A total of 36.41 % patients had DKA (pH < 7.3) at disease onset. During the 9-year period, the percentage of children presenting with DKA at time of diagnosis decreased from 41.67 % to 33.33 % (z = 1.68, p = 0.046). A positive family history of DM, the only factor with an impact on the DKA incidence rate in our popula- tion, lowers the probability of the development of ketoaci- dosis. This study confi rms the importance of the detection of the classic symptoms of polyuria, polydipsia, and weight loss in patients with new-onset type 1 DM. The percentage of patients with DKA at diabetes onset decreased during the observed period but is still high and includes one-third of all patients. This is why in every acutely ill child, especially at a younger age, one should evaluate the possibility of type 1 DM to avoid the development of ketoacidosis

The Role of Urotensin-II in Obesity and Metabolic Syndrome in Pediatric Population

Background: Urotensin-II (U-II) is a short cyclic peptide that is widely recognized as one of the most potent vasoconstrictors. U-II plays a role in the pathophysiology of MS, participating in the development of essential hypertension, insulin resistance, hyperglycemia, and a proinflammatory state. Methods: This study comprised 52 obese children and adolescents with a body mass index (BMI) z score > 2, aged 10 to 18 years. Serum levels of U-II were assessed using an enzyme-linked immunosorbent assay along with other standard biochemical parameters. Results: Elevated serum levels of U-II were recorded in the group of obese subjects with MS when compared with the group of obese subjects without MS (4.99 (8.97–3.16) vs. 4.17 (5.17–2.03) ng/mL, median and IQR, p = 0.026). Furthermore, a subgroup of study subjects with high blood pressure had significantly higher U-II levels in comparison with the normotensive subgroup (4.98 (7.19–3.22) vs. 3.32 (5.06–1.97) ng/mL, p = 0.027), while the subgroup with a positive family history of high blood pressure had significantly higher U-II levels when compared with subjects who had a negative family history of elevated blood pressure (5.06 (6.83–4.45) vs. 3.32 (6.13–2.21) ng/mL, p = 0.039). Conclusions: To the best of the author’s knowledge, this is the first study on the levels of U-II in obese children and adolescents, including a possible link to MS