Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.

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.

[The Green Nephrology Group of the SFNDT: initial reflections].

Preserving the environment is becoming a universal priority. Human activities must be redesigned to best adapt them to available resources and to reduce their deleterious impact on the planet. The Green Nephrology Group of the “Société française de néphrologie, dialyse et transplantation” (SFNDT) has started a reflection on these issues, in particular on dialysis, a vital treatment but with high carbon production, associated with high water consumption.

Trajectories of CKD-MBD biochemical parameters over a 2-year period following diagnosis of secondary hyperparathyroidism: a pharmacoepidemiological study.

Objectives: To define groups of patients according to the changes of biochemical parameters, that is, serum calcium, phosphate and parathyroid hormone (PTH), over a 2-year follow-up period using group-based multi-trajectory modeling (GBMM) among a cohort of dialysis patients with newly diagnosed secondary hyperparathyroidism (SHPT) (ie, PTH≥500 ng/L for the first time) and to compare their patient characteristics and treatments.

Design: Pharmacoepidemiological study.

Setting: In the 12 dialysis units located in the French region of Lorraine.

[First case report of Streptococcus equi subsp. zooepidemicus post-infectious acute glomerulonephritis in France].

Post-infectious glomerulonephritis has become exceptional in France because streptococcus infections are well-treated. When they appear, clinical and biological symptoms are mostly typical and associate acute nephritic syndrome, acute renal failure, proteinuria, hematuria and low complement. We are reporting the first French case of acute post-infectious glomerulonephritis related to Streptococcus equi subsp.

Minimal impact of calcimimetics on the management of hyperparathyroidism in chronic dialysis.

Background: The calcimimetic drug cinacalcet has changed the prescription patterns in patients with secondary hyperparathyroidism, despite the lack of randomized studies that compare cinacalcet with conventional treatment, including parathyroidectomy. The aim of this study was to evaluate current management of patients on chronic dialysis with incidental and parathyroid hormone (PTH) levels ≥ 500 ng/L.

Methods: Prospective pharmacoepidemiologic study of chronic dialysis patients with PTH level ≥ 500 ng/L.

Influence on quality of life from an early cinacalcet prescription for secondary hyperparathyroidism in dialysis.

Objective: The goal of this study is to compare patient-reported quality of life (PRQOL) evolution between two groups of end-stage renal disease patients with secondary hyperparathyroidism (SHPT). The first with a cinacalcet prescription within 3 months after a diagnosis of SHPT (early group) and a second group of patients with a later or no cinacalcet prescription (nonearly group).

Patients And Methods: From 2009 to 2012, we conducted a multicenter pharmaco-epidemiologic study in Lorraine region (France) including all consecutive patients on maintenance dialysis for at least 3 months with a diagnosis of SHPT (PTH > 500 pg/ml or first cinacalcet prescription).