Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and presenting with nephrolithiasis, nephrocalcinosis and/or chronic renal failure. Three genes are currently known as responsible: alanine-glyoxylate aminotransferase (AGXT, PH type 1), glyoxylate reductase/hydroxypyruvate reductase (GRHPR, PH type 2), and 4-hydroxy-2-oxoglutarate aldolase (HOGA1, PH type 3). In our Centre, at the end of 2014 molecular diagnosis of PH1 had been performed in 80 patients, while one patient received a PH2 diagnosis.

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

CUCCURULLO, Alessandra;MANCINI, CECILIA;DE MARCHI, Mario;AMOROSO, Antonio;GIACHINO, Daniela Francesca;MANDRILE, Giorgia
2017

Abstract

Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and presenting with nephrolithiasis, nephrocalcinosis and/or chronic renal failure. Three genes are currently known as responsible: alanine-glyoxylate aminotransferase (AGXT, PH type 1), glyoxylate reductase/hydroxypyruvate reductase (GRHPR, PH type 2), and 4-hydroxy-2-oxoglutarate aldolase (HOGA1, PH type 3). In our Centre, at the end of 2014 molecular diagnosis of PH1 had been performed in 80 patients, while one patient received a PH2 diagnosis.
JN. JOURNAL OF NEPHROLOGY
30
2
219
225
https://link.springer.com/article/10.1007%2Fs40620-016-0287-4
AGXT; GRHPR; Glyoxylate metabolism; HOGA1; Primary hyperoxaluria
Pelle, Alessandra; Cuccurullo, Alessandra; Mancini, Cecilia; Sebastiano, Regina; Stallone, Giovanni; Negrisolo, Susanna; Benetti, Elisa; Peruzzi, Licia; Petrarulo, Michele; DE MARCHI, Mario; Marangella, Martino; Amoroso, Antonio; Giachino, Daniela Francesca; Mandrile, Giorgia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/1559459
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