Using nanopore sequencing, we showed the feasibility and impact of rapid genomic screening for managing thrombotic microangiopathies in 18 prospective cases, achieving diagnoses in <3 days. We compared the results with standard exome sequencing, cost efficiency, and complement blockade initiation.
View Article and Find Full Text PDFBackground: According to data from large national registries, almost 20%-25% of patients with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data have shown that monogenic disease-causing variants are under-diagnosed. We performed exome sequencing (ES) on UKD patients in our center to improve the diagnosis rate.
View Article and Find Full Text PDFIntroduction: Previous studies have suggested that genetic kidney diseases in adults are often overlooked, representing up to 10% of all cases of chronic kidney disease (CKD). We present data obtained from exome sequencing (ES) analysis of patients with biopsy-proven undetermined kidney disease (UKD).
Methods: ES was proposed during routine clinical care in patients with UKD from January 2020 to December 2021.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. While biallelic variants affecting IFT140 are responsible for Mainzer-Saldino syndrome (characterized by severe ciliopathy causing skeletal abnormalities, kidney disease, and cysts), monoallelic loss-of-function (LoF) variants have been recently reported as an important cause of ADPKD beyond PKD1/2 genes. Herein, we report 6 non-family-related cases of monoallelic IFT140 LoF variants, identified from 1,340 exomes sequenced for nephrological indications in our local database.
View Article and Find Full Text PDFIntroduction: Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of obtaining positive result.
Methods: From September 2018 we have used ES to prospectively perform a first-tier liberal exploration of adult nephropathies of unknown origin and/or when a genetic kidney disease was clinically suggested.
Ann Biol Clin (Paris)
October 2021
Eosinophiluria corresponds to search eosinophils in urine. These are normally absent in urine, their presence could be associated with different clinical conditions affecting kidney or urinary tract. This analysis of medical biology laboratory listed in the French Nomenclature of acts of medical biology has to be validated according to norm NF EN ISO 15189.
View Article and Find Full Text PDFBackground And Aims: APOC3 is a major regulator of triglycerides metabolism. Several APOC3 variants are associated with hypertriglyceridemia (HTG). Our aim was to establish the potential regulation of APOC3 3'UTR variants associated with HTG by liver or intestinal miRNAs.
View Article and Find Full Text PDF