Use of Highly Individualized Complement Blockade Has Revolutionized Clinical Outcomes after Kidney Transplantation and Renal Epidemiology of Atypical Hemolytic Uremic Syndrome.

Background: Atypical hemolytic uremic syndrome (HUS) is associated with high recurrence rates after kidney transplant, with devastating outcomes. In late 2011, experts in France recommended the use of highly individualized complement blockade-based prophylaxis with eculizumab to prevent post-transplant atypical HUS recurrence throughout the country.

Methods: To evaluate this strategy's effect on kidney transplant prognosis, we conducted a retrospective multicenter study from a large French nationwide registry, enrolling all adult patients with atypical HUS who had undergone complement analysis and a kidney transplant since January 1, 2007.

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes.

[Is cancer incidence different between type 2 diabetes patients compared to non-diabetics in hemodialysis? A study from the REIN registry].

Background And Objectives: In France, diabetes mellitus is now the second cause of end stage renal disease. In a large previous French national study, we observed that dialyzed diabetics have a significant lower risk of death by cancer. This first study was focused on cancer death but did not investigate cancer incidence.

PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.

Background: PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort.

Study Design: Case series, January 2010 to March 2016.

Clinical evaluation of an expert system for arteriovenous fistula assessment.

The monitoring of ionic dialysance in hemodialysis allows early detection of arterio-venous fistula stenosis. One limitation to the practical use of ionic dialysance is that the analysis is very time consuming on a majority of normal cases.The purpose of the study is to evaluate the utility of an expert system reproducing a human analysis and allowing continuous monitoring of the ionic dialysance by helping the physician to focus his or her expertise on the abnormal cases.

Type of PKD1 mutation influences renal outcome in ADPKD.

Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype relationship in ADPKD is not completely understood. Here, we studied 741 patients with ADPKD from 519 pedigrees in the Genkyst cohort and confirmed that renal survival associated with PKD2 mutations was approximately 20 years longer than that associated with PKD1 mutations.

[Teledialysis in satellite hospital: 5-year practice in Saint-Brieuc].

The ageing population, the need for patient care delivery closer to home and reducing travel cost and isolation and, not at least, optimising medical team activity lead to adapt treatment by hemodialysis. Telehealth is an alternative now enabled by recent regulatory changes. We summarize here the regulatory and organisational conditions in a monitored Medicalized Dialysis Unit (MDU) and report the local experience of Saint-Brieuc Hospital; the feasibility and functionality over time (5 years) of this approach was demonstrated in clinical practice with selected patients; over short-term and for a still-limited number of patients, its clinical results are comparable to those observed in a MDU running on a traditional regimen (weekly visits and on-call 24 hours on-site 24 of the nephrologist); the degree of patient satisfaction, some of them very old people, is high.

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

Background: Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS.

Epidemiologic data of primary glomerular diseases in western France.

Between January 1, 1976, and December 31, 2002, histologic diagnosis of primary glomerular diseases (PGD) was made in 898 patients born and living at the time of diagnosis in a region of France, comprising 412,735 inhabitants, of whom 391,265 were aged from 10 to 85 years. The prevalence of PGD during a 75-year exposure to risk (10 to 85 years of age) was evaluated to 6.9 in 1000 (8.