Open AccessClinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2
Author(s) -
Prince Singh,
Jason K. Viehman,
Ramila A. Mehta,
Andrea G. Cogal,
Linda Hasadsri,
Devin Oglesbee,
Julie B. Olson,
Barbara M. Seide,
David J. Sas,
Peter C. Harris,
John C. Lieske,
Dawn S. Milliner
Publication year - 2021
Publication title -
nephrology, dialysis, transplantation/nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfab027
Subject(s) - nephrocalcinosis , medicine , primary hyperoxaluria , kidney stones , gastroenterology , kidney stone disease , urine , kidney disease , urinary system , pediatrics , kidney , urology
Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This study characterized clinical manifestations of PH3 across the decades of life in comparison with PH1 and PH2.