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We describe herein a case of hypokalemia due to proximal renal tubular acidosis (RTA) and Fanconi's syndrome (FS) and nephrogenic diabetes insipidus with DIC – a rare complication of Sjögren's syndrome (SS) and brucellosis. The interesting feature of this case was the presentation with severe hypokalemia, causing acute flaccid quadriparesis with cardiac arrest which is extremely rare. The patient was a 48-year-old woman who suffered cardiopulmonary arrest an hour after hospitalization. Analysis of a blood sample obtained before her cardiopulmonary arrest yielded surprising results: laboratory investigations showed profound hypokalemia (1.1 mEq/L) with renal K wasting, hyperchloremic metabolic acidosis with normal anion gap, hypophosphatemia with hypouricemia, glucosuria, and proteinuria. A diagnosis of RTA and FS were made. On the seventh day, she looked acutely ill, temperature 38.8 °C and pale, and her physical examination revealed purpuric skin lesions on both legs. The serum antibrucella titration agglutination test was found to be 1 of 160 positive with a nosocomial infection. The clinical and laboratory findings were consistent with disseminated intravascular coagulation (DIC). She was unable to concentrate her urine and so a diagnosis of nephrogenic diabetes insipidus (NDI) was reached. A thorough survey for the cause of FS, RTA and NDI revealed that she had xerophthalmia and xerostomia accompanied by high anti-Ro antibody, positive Schirmer test, confirming the diagnosis of SS. [ABSTRACT FROM AUTHOR]

Abstract: Adiponectin, an adipose tissue specific protein encoded by the Adiponectin gene, modulates insulin sensitivity and plays an important role in regulating energy homeostasis. Many studies have shown that single nucleotide polymorphisms (SNPs) in the Adiponectin gene are associated with low plasma Adiponectin levels, insulin resistance and an increased risk of type 2 diabetes mellitus. The aim of the present study was to evaluate the contribution of the Adiponectin gene polymorphisms in genetic background of type 2 diabetes in a Turkish population. In total, 169 unrelated and non-obese diabetic patients and 119 age- and BMI-matched non-diabetic individuals with no family history of diabetes were enrolled in this study. We detected a significant association between type 2 diabetes and two SNPs: SNP −11391G>A, which is located in the promoter region of the Adiponectin gene, and SNP +276G>T, which is found in intron 2 of the gene (P <0.05). The silence SNP G15G (+45T>G) in exon 1 and SNP +349A>G in intron 2 also showed a weak association with type 2 diabetes (P =0.06 and P =0.07, respectively), while SNPs −3971A>G in intron 1 and Y111H, R112C and H241P in exon 3 showed no association (P >0.05). In conclusion, these findings suggest that Adiponectin gene polymorphisms might be effective on susceptibility for type 2 diabetes development which emerged from the interactions between multiple genes, variants and environmental factors. [Copyright &y& Elsevier]

Background and Aims: ATP-sensitive potassium (KATP) channels of pancreatic β-cells play a key role in glucose-stimulated insulin secretion mechanism. The Kir6.2 protein, forming the KATP channel pore inwardly, and the SUR1 protein that surrounds it forming the outside part of the channel were encoded by ABCC8 and KCNJ11 genes, respectively. Recent studies reported that the single nucleotide polymorphisms (SNPs) established in these genes are associated with defects in insulin secretion and type 2 diabetes mellitus (T2DM). We aimed to investigate the allele profiles and the risk alleles of the ABCC8 and KCNJ11 genes and to highlight the associations with the disease in patients in Konya region of Turkey where T2DM is common. Methods: In this study, 169 patients with T2DM and 119 healthy controls were included. A total of 29 SNPs in ABCC8 and KCNJ11 genes were screened by PCR–SSCP technique and sequenced. Biochemical parameters and genotype–phenotype relationships were analyzed using variance analysis. Results: R1273R silent substitution in exon 31 and 16/-3t→c substitution in noncoding region of exon 16 of ABCC8 gene showed a significant association (OR 4.8 [95% CI 2.41–9.77], p <0.001 and OR 3.5 [95% CI 1.64–7.40], p <0.001 under dominant and recessive models, respectively). We detected a significant association between E/K heterozygote genotype and reduced plasma insulin level in patients with T2DM (p <0.05). Conclusions: ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin secretion in a Turkish population. [ABSTRACT FROM AUTHOR]