Yüksel Yaşartekin

Type 1 diabetes mellitus (T1DM) is a common chronic disease in children and adolescents. Diabetic kidney disease (DKD) is one of its most serious microvascular complications. Serum uric acid (SUA) has been associated with an increased risk of DKD. The aim of this study was to evaluate the association between SUA levels and the presence of microalbuminuria, an important and early marker of DKD, in pediatric patients with T1DM. This retrospective study included 138 pediatric patients who were followed up with a diagnosis of T1DM for at least 1 year. Patients were divided into two groups, normoalbuminuric and microalbuminuric, according to the urine albumin/creatinine ratio (uACR) and were also divided into two groups according to SUA levels, < 3.98 mg/dL and ≥ 3.98 mg/ dL. The mean SUA level of 138 patients with T1DM was 3.85 ± 1.0 mg/dL. The mean SUA level was significantly higher in the microalbuminuria group compared to the normoalbuminuria group. ROC curve analysis revealed that mean SUA level at a cut-off of 3.98 mg/dL was associated with the presence of albuminuria, with an AUC of 0.66 (p: 0.008, 95% CI [0.56–0.76]) yielding 63% sensitivity and 65% specificity. The rate of microalbuminuria was found to be 3.06 times significantly higher among patients with SUA level of ≥ 3.98 mg/dL (p = 0.008, OR 3.06, 95% CI [1.31–7.13]). Conclusions: The mean SUA level was significantly higher in the microalbuminuria group and the rate of microalbuminuria is higher in patients with T1DM when SUA was ≥ 3.98 mg/dL. These findings indicate a potential link between elevated SUA levels and early renal involvement in pediatric T1DM, though the proposed cut-off should be interpreted with caution. What is known: • Serum uric acid levels have been associated with an increased risk of developing DKD and development of albuminuria has been linked to higher SUA levels in patients with diabetes. What is new: • The mean SUA level demonstrated a moderate discriminative ability for microalbuminuria, with an AUC of 0.66 (p = 0.008, 95% CI [0.56–0.76]), providing 63% sensitivity and 65% specificity at a cut-off value of 3.98 mg/dL. • The rate of microalbuminuria is 3.06 times higher in pediatric patients with T1DM when SUA is ≥ 3.98 mg/dL. • Considering the ongoing debate regarding the definition of elevated SUA levels even in healthy individuals, the proposed cut-off may serve as a preliminary reference for future studies exploring risk assessment and follow-up in this population.

Polycystic ovary syndrome (PCOS) is a chronic and heterogeneous disease associated with obesity, hyperinsulinemia, dyslipidemia and chronic low-grade inflammation. Adipsin is a protein that is mostly secreted from adipose tissue and is a structural homolog of complement factor D, the rate-limiting enzyme of the alternative complement system. The aim of this study was to investigate adipsin levels in adolescents with PCOS and their relationship with obesity. 40 normal weight--children with PCOS and 40 obese-children with PCOS, and 40 normal weight healthy children participated in our study. Adipsin levels of adolescents in each group was measured in morning fasting blood samples by a commercial ELISA kit. Adipsin levels showed statistically significant differences between the groups. (p<0.001). Normal-weight PCOS adolescents had higher adipsin levels than both obese PCOS and healthy controls. A negative correlation was observed between adipsin levels and BMI in the PCOS group (r=-0,457, p<0,001). In conclusion, adipsin can be considered as an independent risk factor in normal weight adolescents with PCOS and may help in the diagnosis of PCOS in normal weight children with other symptoms.

PURPOSE To explore sonographic cortical bone thickness (CoT) as a potential indicator of bone mineral density (BMD) measured by dual -energy X-ray absorptiometry for screening and diagnosing pediatric osteoporosis. METHODS A prospective study included 41 osteopenic or osteoporotic patients and 52 healthy children. Radius cortical thickness (R-CoT), tibial cortical thickness (T-CoT), and second metatarsal cortical thickness (M-CoT) were measured by B -mode ultrasound; CoT values were compared between groups and the correlation between BMD and CoT was examined. RESULTS There were no significant differences in R-CoT ( P = 0.433), T-CoT ( P = 0.057), and M-CoT ( P = 0.978) values between the patient and control groups. No significant correlations were found between BMD T -scores and R-CoT (r = -0.073, P = 0.490), T-CoT (r = -0.154, P = 0.141), and M-CoT (r = 0.047, P = 0.657) values. CONCLUSION Sonographic CoT values in children do not correlate with BMD values. Unlike in adults, sonographic CoT measurements do not appear to have a role in assessing BMD in the pediatric population.

Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: Inactivating mutations in the calcium-sensing receptor (CaSR), G-protein subunit α11 or adapter-associated protein complex 2, sigma 1 subunit. In other cases, hypercalcemia causes significant morbidity and mortality, while FHH usually follows a benign course. Failure to diagnose FHH may result in unwarranted treatment or surgery for a false diagnosis of primary hyperparathyroidism, given the significant overlap of biochemical features. Patients carrying a heterozygous loss-of-function mutation in the CaSR gene are typically referred to as FHH-type 1 (FHH1). Although FHH1 causes lifelong hypercalcemia, it is usually benign and asymptomatic. FHH is the most common syndrome of CaSR gene mutation; it may sometimes be associated with a hypercalciuric tendency depending on the variant. Although hypercalcemia is a frequently encountered condition in our clinical practice, FHH is a clinic that we do not often think of. This paper presents a family diagnosed with FHH, having heterozygous CaSR mutations in three generations.