Clinical Analysis Of A Family With Chronic Glomerulonephritis Syndrome

Objective: Analysis of clinical data of a family of patients with chronic glomerulonephritis syndrome,detection of trio-exon gene mutation in connoisseur families and detection of coding region sites of related genes and expression of protein level in patients,study on the possible Pathogenesis of chronic glomerulonephritis syndrome in this family Methods: The composition of the family members was investigated in detail,the family map was constructed,and the clinical data and laboratory test results of the existing family members were collected,verified and analyzed with the informed consent of the patients.Collection of peripheral blood from family members,the high throughput sequencing technique was used to detect the gene variation of the whole exon in the family,and the Sanger sequencing technique was used to verify the sequencing of CFH3172 and 3178 sites,detection of human complement factor H protein concentration by Elisa.Results: There were seven patients with uremia in the four generations of the family,of whom three had died of uremia.At present,three patients had varying degrees of renal function damage,and two patients had varying degrees of hematuria and proteinuria.There were five people in the pedigree who cooperated with the detection of the Trio-exons detected,including the proband and his parents,seven aunts and eight aunts,the father of the proband was normal,and the other four Trio-exons detected abnormal genes related to kidney disease,such as CFH,C5,PKD1,MEFV.We sequenced the 3172 and 3178 sites of CFH gene coding region in eight of their immediate family members,and four of them had abnormal CFH gene detection.The detection of CFH gene mutation was abnormal in all of the twelve patients with kidney damage.two of them had abnormal gene detection but no obvious clinical symptoms at present,and four of them had normal gene detection,all of them had no obvious clinical symptoms.Laboratory tests on the kidneys are also normal.The protein expression of CFH was detected in eleven people(one of them was unable to cooperate for physical reasons)who had been tested for gene.Only one patient's serum CFH concentration was lower than normal,two patients' serum CFH concentration was within the normal range,and the other eight patients' serum CFH concentration was higher than normal.There was no significant correlation with CFH gene abnormality.Conclusion: At present,it has been confirmed that there are 3172 and 3178 site mutations in the coding region of CFH gene in patients with renal damage,and no renal damage has been found in all patients with normal CFH gene.Therefore,CFH gene may be involved in the occurrence and development of chronic glomerulonephritis in this family.