Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

Our study aims to comment on all ADPKD variants identified in our health area and explain how they are distributed geographically, to identify new variants, and relate the more frequent variants with their renal phenotype in terms of kidney survival. We identified patients suffering from ADPKD in a specialized consultation unit; genealogical trees were constructed from the proband. According to the ultrasound-defined modified Ravine-Pei criteria, relatives classified as at risk were offered participation in the genetic study.

Erratum to: Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.

[This corrects the article DOI: 10.1093/ckj/sfaa261.].

Predicting Future Renal Function Decline in Patients with Autosomal Dominant Polycystic Kidney Disease Using Mayo Clinic Classification.

Introduction: Mayo clinic classification (MCC) has been proposed in patients with autosomal dominant polycystic kidney disease (ADPKD) to identify who may experience a rapid decline of renal function. Our aim was to validate this predictive model in a population from southern Spain.

Methods: ADPKD patients with measurements of height-adjusted total kidney volume (HtTKV) and baseline estimated glomerular filtration rate (eGFR) >30 mL/min/1.

Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.

Our group identified two pathogenic variants on the gene, c.10527_10528delGA and c.7292T>A, from unrelated families.

New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada.

Objective: To demonstrate that the variant not described in PKD1 gene c.7292T> A, identified in four families from the Alpujarra in Granada, is the cause of autosomal dominant polycystic kidney disease (ADPKD). This variant consists of a transversion of thymine (T) by adenine (A) that at the level of the Polycystin 1 protein produces a change of leucine (Leu / L) by Glutamine (Gln / Q) in position 2431 (p.

Overview of autosomal dominant polycystic kidney disease in the south of Spain.

Introduction: Although autosomal dominant polycystic kidney disease is the most common hereditary kidney disease, available data tend to be limited to after initiation of renal replacement therapy.

Objective: To ascertain an overview of autosomal dominant polycystic kidney disease within the health area of Granada in southern Spain.

Material And Methods: From January 2007 to December 2016, we collected clinical, family and demographic information about all patients with autosomal dominant polycystic kidney disease, irrespective of whether or not they were treated with RRT, in the Granada health area.