alexa Update On Primary Hyperoxaluria In Italian Patients
ISSN: 2161-0959

Journal of Nephrology & Therapeutics
Open Access

Like us on:
OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Share This Page

Additional Info

Loading Please wait..

10th European Nephrology Conference
October 24-26, 2016 Rome, Italy

Alessandra Pelle
University of Torino, Italy
SSD Genetica Medica, Italy
AOU San Luigi Gonzaga, Italy
Posters & Accepted Abstracts: J Nephrol Ther
DOI: 10.4172/2161-0959.C1.034
Primary hyperoxalurias (PH) are a group of rare autosomal recessive diseases commonly arising in childhood and presenting with nephrolithiasis, nephrocalcinosis, progressing to chronic renal failure. 3 responsible genes are known: Alanine-glyoxylate aminotransferase (AGXT, PH1), glyoxylate reductase/hydroxypyruvate reductase (GRHPR, PH2) and 4-hydroxy-2-oxoglutarate aldolase (HOGA1, PH3). Out of over 200 patients from all Italy referred until April 2016 to the multidisciplinary network established in Torino in the 80s, PH1 had been diagnosed in 82, PH2 in 3, PH3 in 2 DZ twins and one additional patient homozygous for a novel HOGA1 variant of unknown significance (c.341-81delT). A defined suspicion of PH strictly depends on a reliable dosage of urinary oxalate that it is strongly influenced by the analytical procedure (free vs. bound Uox), in particular in the advanced phase of the disease. This may in part explain why PH is underdiagnosed. 21 patients suspected to have PH on clinical grounds were negative for mutations in the 3 genes. Negative findings might be ascribed in a few cases to mutations of difficult identification by Sanger sequencing. Alternatively, new genetic subtypes of PH can also be hypothesized, caused by mutations in other genes encoding proteins of glyoxylate metabolism (e.g. HAO1, SLC26A1). To explore this possibility, whole exome sequencing and SNPs array techniques and further phenotype–genotype studies are needed. This approach requires a closer interaction between clinicians and geneticists in evaluating the clinical and biochemical data: A multiple step diagnostic algorithm based on clinical and biochemical data could be proposed to achieve this goal.

Email: [email protected]

image PDF   |   image HTML

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version