Pick Topic
Review Topic
List Experts
Examine Expert
Save Expert
  Site Guide ··   
Hearing Disorders: HELP
Articles by Silvana Penco
Based on 1 article published since 2010
(Why 1 article?)
||||

Between 2010 and 2020, Silvana Penco wrote the following article about Hearing Disorders.
 
+ Citations + Abstracts
1 Article The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 2017

Palazzo, Viviana / Provenzano, Aldesia / Becherucci, Francesca / Sansavini, Giulia / Mazzinghi, Benedetta / Orlandini, Valerio / Giunti, Laura / Roperto, Rosa Maria / Pantaleo, Marilena / Artuso, Rosangela / Andreucci, Elena / Bargiacchi, Sara / Traficante, Giovanna / Stagi, Stefano / Murer, Luisa / Benetti, Elisa / Emma, Francesco / Giordano, Mario / Rivieri, Francesca / Colussi, Giacomo / Penco, Silvana / Manfredini, Emanuela / Caruso, Maria Rosa / Garavelli, Livia / Andrulli, Simeone / Vergine, Gianluca / Miglietti, Nunzia / Mancini, Elena / Malaventura, Cristina / Percesepe, Antonio / Grosso, Enrico / Materassi, Marco / Romagnani, Paola / Giglio, Sabrina. ·Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy. · Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy. · Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. · Endocrinology Unit, Department of Health Sciences, University of Florence, Florence, Italy. · Pediatric Nephrology Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua, Italy. · Nephrology Dialysis, Transplant, Bambin Gesù Children's Hospital, Roma, Italy. · Pediatric Nephrology and Dialysis Unit, Children's Hospital Giovanni XXIII, Bari, Italy. · Medical Genetic Service, Department of Laboratory, S. Chiara Hospital, Trento, Italy. · Division of Nephrology, Dialysis and Renal Transplantation, Niguarda Ca'Granda Hospital, Milan, Italy. · Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca'Granda Hospital, Milan, Italy. · Nephrology and Dialysis Unit, Papa Giovanni XXIII Hospital, Bergamo, Italy. · Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS S. Maria Nuova Hospital, Reggio Emilia, Italy. · Department of Nephrology and Dialysis, Alessandro Manzoni Hospital, Lecco, Italy. · Pediatric Unit, Ospedale degli Infermi, Rimini, Italy. · Pediatric Unit, Azienda Ospedaliera Spedali Civili, Brescia, Italy. · Division of Nephrology, Dialysis and Hypertension, Policlinico S. Orsola-Malpighi, Bologna, Italy. · Department of Medical Sciences, Section of Pediatrics, University of Ferrara, Italy. · Medical Genetics, Department of Clinical and Experimental Medicine, University Hospital of Parma, Italy. · Department of Medical Sciences, University of Torino, Turin, Italy. · Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy; Excellence Center DENOTHE, University of Florence, Florence, Italy. · Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. Electronic address: s.giglio@meyer.it. ·Kidney Int · Pubmed #28233610.

ABSTRACT: Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of distal renal tubular acidosis is essentially based on clinical and laboratory findings, and the series of patients described so far are usually represented by small cohorts. Therefore, a strict genotype-phenotype correlation is still lacking, and questions about whether clinical and laboratory data should direct the genetic analysis remain open. Here, we applied next-generation sequencing in 89 patients with a clinical diagnosis of distal renal tubular acidosis, analyzing the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and the clinical phenotype. A genetic cause was determined in 71.9% of cases. In our group of sporadic cases, clinical features, including sensorineural hearing loss, are not specific indicators of the causal underlying gene. Mutations in the ATP6V0A4 gene are quite as frequent as mutations in ATP6V1B1 in patients with recessive disease. Chronic kidney disease was frequent in patients with a long history of the disease. Thus, our results suggest that when distal renal tubular acidosis is suspected, complete genetic testing could be considered, irrespective of the clinical phenotype of the patient.