Gitelman syndrome: first report of genetically established diagnosis in Greece.

Gitelman syndrome is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis. It is distinguished from other hypokalemic tubulopathies, such as Bartter syndrome, by the presence of both hypomagnesemia and hypocalciuria. We report a case of Gitelman syndrome in a 10-year-old girl who presented for examination of persistent unexplained hypokalemia. She had no severe clinical symptoms but she had typical laboratory findings including hypokalemia, hypomagnesemia and normocalcemic hypocalciuria. Molecular analysis revealed a mutation in the exon 21 of the SLC12A3 gene which encodes the thiazide-sensitive sodium-chloride co-transporter expressed in the distal convoluted tubule (a guanine to adenosine substitution at nucleotide 2538). She was treated with oral potassium and magnesium supplements. This is the first report of genetically established diagnosis in Greece. Gitelman syndrome should be considered as a cause of persistent hypokalemia and genetic analysis might be a useful tool to confirm the diagnosis.

Diabese youngsters have 3.7 more chances in developing metabolic syndrome compared with the obese.

BACKGROUND AND AIMS: Diabesity, the coexistence of diabetes and obesity, is a new health epidemic. The present case-control study aimed in assessing the prevalence of metabolic syndrome (MS) between diabese and obese children and adolescents. METHODS AND RESULTS: One-hundred and fifty-four obese children and adolescents aged 4-16 yr were recruited and divided in 2 groups: the diabese (no.=85) who were diagnosed with obesity and impaired glucose tolerance (IGT) and the obese (no.=69), who formed the controls group and did not demonstrate IGT. Von Willebrand factor (vWF), plasminogen activator inhibitor-1 (PAI-1), and uric-acid levels were measured. Being diabese increased the odds ratio (OR) for developing MS (OR: 3.714), demonstrating increased serum triglycerides (TG) (OR: 9.067) and low HDL-cholesterol (HDL-C) (OR: 1.405), developing hypertension (OR: 0.750) and acanthosis nigricans (OR: 2.882). In the total sample, low HDL-C was the most common MS criterion, diagnosed in 68% of the diabese and 62% of the obese subjects. Age and weight-adjustment of the continuous data demonstrated that the diabese subjects had higher fat mass index, blood pressure, and TG levels, however the obese exhibited lower HDLC concentrations. Principal component analysis demonstrated that among the inflammatory biomarkers PAI-1 and vWF contributed to the prevalence of MS. CONCLUSION: The present study is the first to demonstrate that the diabese youngsters have 3.7 times more chances in developing MS compared with the obese. From the examined atherosclerotic biomarkers, PAI-1 and vWF contributed to the prevalence of the syndrome and both indicate the initiation of endothelial dysfunction.