As the most frequent inherited tubulopathy, Gitelman syndrome (GS), has an incidence that has increased worldwide. The distribution of SLC12A3 gene mutation hotspots deserves exploration. In addition, GS is not a benign syndrome; however, the diagnostic process of GS has not yet been completely detailed.

We report two cases of GS pedigrees involving two previously unreported mutations, c. 676G>A, p. A226T and c. 421G>A, p. G141R, in the

gene and reviewed relevant literature. We searched the literature for nucleotide of

in PubMed and other databases as of April 20, 2020.

A total of 1,794 detected mutated alleles in 939 patients worldwide were included in this study. Splicing mutations and p. Gly741Arg were mutation hotspots in a European population. P. Leu858His and p. Thr60Met were mutation hotspots in an Asian population. P. Leu858His and p. Thr180Lys were considered mutation hotspots in the Japanese population, while p. Thr60Met and p. Asp486Asn were considered mutation hotspots in the Chinese population.

Our results identified two novel mutation sites (c. 676G>A, p. A226T and c. 421G>A, p. G141R), if their pathogenicity was determined this could contribute to the enrichment of database resources on GS. Our study has compiled the most comprehensive

gene mutation database in the world thus far to reveal that different regions have different mutation hotspots in SLC12A3. Moreover, the establishment of a diagnostic process for GS has important implications for confirmed cases.

A, p. G141R), if their pathogenicity was determined this could contribute to the enrichment of database resources on GS. Our study has compiled the most comprehensive SLC12A3 gene mutation database in the world thus far to reveal that different regions have different mutation hotspots in SLC12A3. Moreover, the establishment of a diagnostic process for GS has important implications for confirmed cases.

Intra-dialytic hypotension episodes (ID-Hypos) cause significant reduction of dialysis efficiency and increased cardiovascular morbimortality. Atherosclerosis and vascular calcification are two closely inter-related processes that occur prematurely and progress aggressively in maintenance hemodialysis (MHD) patients.

To study the predictors of ID-Hypos, particularly a novel combined atherosclerosis-calcification score (CACS) (0 to 6) obtained by adding the atherosclerosis score (AS) to a modified abdominal aortic calcification score (AACS), each ranging 0 to 3.

In 60 adult MHD patients, AS was derived from ankle-brachial index and carotid ultrasound. AACS was modified from Kauppila score applied on lateral abdominal plain radiographs. The number of sessions complicated by ≥ 1 ID-Hypos over 14 weeks was recorded and correlated with CACS, ultrafiltration rate (UFR), and other hemodynamic and laboratory parameters.

Patients developed a median of 10.5 ID-Hypos (IQR 5.75-14). The number of ID-Hypos had a sHypos, those who would be prioritized for potential preventive measures like biocompatible membranes or hemodiafiltration. A background of chronic inflammation may underlie and link patient-related ID-Hypos risk factors.

To investigate the changes in Treg and Th17 cells and explore the significance of Treg/Th17 balance in adult primary membranous nephropathy (PMN) patients.

A total of 60 PMN patients and 50 healthy adults from June 2013 to October 2016 were enrolled in this study. The levels of Treg, Th17, and related cytokines were assessed. Pearson correlation was used for conducting correlation analysis.

There was a significant increase in Th17 frequencies and IL-17 (Th17-related cytokines) in the peripheral blood mononuclear cells (PBMCs), as well as a significant decrease in Treg frequencies and IL-10 (Treg-related cytokines). The IL-17 concentrations in the peripheral blood of PMN patients were positively correlated with urinary protein, while IL-10 levels were negatively correlated with urinary protein. Protein expression of Treg transcription factor (Foxp3) was significantly low in the renal tissues of PMN patients, while the expression of IL-17 was much higher. Th17/Treg imbalance was reversed to normal after effective treatment with tacrolimus in 15 PMN patients.

These results suggested the existence of Treg/Th17 imbalance in PMN patients, showing the importance of Treg/Th17 imbalance in PMN pathogenesis.

These results suggested the existence of Treg/Th17 imbalance in PMN patients, showing the importance of Treg/Th17 imbalance in PMN pathogenesis.Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited disorder caused by mutations in HPRT1 gene resulting in deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). LND is characterized by hyperuricemia and a spectrum of neurological and behavioral manifestations. We describe a rare case of a 14-month-old boy presenting with acute renal failure and hyperuricemia. read more The patient exhibited all features of LNS apart from self-injurious behavior. The enzymatic analysis demonstrated total inactivity of the HPRT, and the molecular analysis revealed a splice-site mutation in intron 3 leading to exon 4 exclusion. This splice-site mutation has been previously reported only twice.

Due to the global epidemic of obesity, there is increasing interest in a distinct entity, called obesity-related nephropathy (ORN). Data on sustainable effects of weight reductions, with conservative, non-surgical treatment programs, on renal function in CKD patients are scarce.

We retrospectively investigated patients with CKD (eGFR ≤ 60 mL/min/1.73m2) from a non-surgical multimodality obesity treatment program over 12 months.

We identified 17 obese patients with CKD (estimated glomerular filtration rate (eGFR) ≤ 60 mL/min at baseline). 76% were female, 41% had type II diabetes mellitus, and the mean age was 59.6 ± 8.4 years (mean ± SD). Mean serum creatinine and eGFR at baseline were 106.4 ± 17.6 µmol/L and 53.4 ± 5.8 mL/min, respectively. Mean weight and body mass index (BMI) were 134.9 ± 26.4 and 50.1 ± 10.5 kg/m2, respectively. All subjects lost weight, with average weight loss of -32.2 ± 15.1 kg (p < 0.001) by the end of 12 months (BMI at 12 months 38.1 ± 7.8 kg/m2 (-12.0 ± 6.0 kg/m2, p < 0.