Plasma creatinine may not reflect glomerular filtration rate (GFR) especially in the early stages of chronic kidney disease (CKD). Plasma cystatin C (cysC), however, has the potential to more accurately determine early GFR reduction. We sought to improve the creatinine-based GFR estimation by including cysC measurements. We derived a reference GFR from standard dual plasma sampling (99m)Tc-DTPA clearance in a training cohort of 376 randomly selected adult Chinese patients with CKD. We compared reference values to estimated GFR and applied multiple regression models to one equation based solely on cysC, and to another combining plasma creatinine (Pcr) and cysC measurements of the training cohort. The results were validated by testing an additional 191 patients. The difference, precision, and accuracy of the two estimates were compared with the modified Modification of Diet in Renal Disease (MDRD) equation for Chinese patients, and another estimate combining cysC and modified MDRD calculations. The estimated GFR combining Pcr and cysC measurements more accurately matched the reference GFR at all stages of CKD than the other equations, particularly in patients with near-normal kidney function.

MG is a complication of PNP. Anti-AChR and anti-AChE antibodies are prominent in patients with PNP, especially those with dyspnoea.

No abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory disease. This study aimed to investigate the frequencies and distributions of inherited variants in PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP genes in Chinese patients with HLH. A total of 265 patients diagnosed with HLH from January, 2010 to December, 2016 were recruited and analyzed for the 6 genes. Genetic variants were observed in 87 (32.83%) patients. 36 (13.58%) exhibited variants in UNC13D, 18 (6.79%) exhibited PRF1 variants, 10 (3.77%) had variants in XIAP, 9 (3.40%) exhibited variants in STXBP2, 6 (2.26%) carried variants in SH2D1A, 1 (0.38%) had STX11 variant, and 7 (2.64%) exhibited digenic variants. Monoallelic variants were the most common, which accounted for 49.43% of all cases with variants. All variants were confirmed to be germline-derived. The present study describes a distinct variant spectrum in Chinese patients with HLH, whereby UNC13D is the most frequently mutated gene with missense variants that are the most common molecular defects. The variant profile of Chinese HLH patients is quite different from that of Western cohorts but similar to that of Korean patients, yet showing its own uniqueness. This racial difference shows the role of genetic background in the occurrence of HLH.