Focus on laboratory tests related to the pathological types of lupus nephritis to implement renal biopsy as early as possible:clinical and pathological analysis of 217 cases of single center lupus nephritis

Objective:To analyze the clinical and laboratory indices of patients with lupus nephritis(LN)of different pathological types and explore the related factors of LN pathological classification,it is helpful to grasp the timing of renal biopsy.Methods:The clinical manifestations,laboratory parameters and renal pathological types of LN patients in recent 20 years were analyzed retrospectively by SPSS 26.0 software.Results:In this study,the first three pathological types were V,IV,V+IV;latent nephritis was common in type II and V;nephritic syndrome was common in type V;nephrotic syndrome was common in type V+IV;chronic renal insufficiency group was mostly type IV;pathological types were correlated with serum creatinine,C3,albumin and erythrocyte sedimentation rate(r=0.315,P<0.001),and serum creatinine was moderately correlated(r=0.315,P<0.001);AI,CI and SLEDAI scores were significantly different among LN patients of different pathological types.Conclusion:LN is closely related to clinical pathology,clinical manifestations,comprehensive analysis of laboratory indicators and SLEDAI score to make a preliminary prediction of LN pathological type,help to initially assess the severity of pathology,improve the timing of renal biopsy implementation,optimize the timing of treatment.

Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population:Results from a Single Center Study and a Systematic Review

Primary hyperoxaluria type 1(PH1)is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT.Pathogenic mutations of AGXT were mostly reported in Caucasian but infrequently in Asian,especially in Chinese.To update the genotypes of PH1 in the Chinese population,we collected and identified 7 Chinese probands with PH1 from 2013 to 2017 in our center,five of whom had delayed diagnosis and failed in kidney transplantation.Samples of peripheral blood DNA from the 7 patients and their family members were collected and sequencing analysis was performed to test the mutations of gene AGXT.Western blotting and enzyme activity analysis were conducted to evaluate the function of the mutations.Furthermore,a systematic review from 1998 to 2017 was performed to observe the genetic characteristics between Chinese and Caucasian. The results showed that a total of 12 mutations were identified in the 7 pedigrees.To the best of ourknowledge,2 novel variants of A GXT,p.Gly41 Trp and p.Leu33Met,were first reported.Bioinformatics and functional analysis showed that only 7 mutations led to a reduced expression of alanine-glyoxylate amino transferase (AGT)at a protein level.The systematic review revealed significant population heterogeneity in PH1.In conclusion,new genetic subtypes and genetic characteristics of PH1 are updated in the Chinese population. Furthermore,a genotype-phenotype correlation is found in PH1.