作者
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
发表日期
2022/5/22
期刊
Nephrology Dialysis Transplantation
卷号
37
期号
5
页码范围
869-875
出版商
Oxford University Press
简介
Background
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.
Methods
Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62).
Results
PH3 patients presented with symptoms at a median of 2.7 years old compared with PH1 (4.9 years) and PH2 (5.7 years) (P = 0.14). Nephrocalcinosis was present at diagnosis in 4 (7%) PH3 patients, while 55 (89%) had stones. Median urine oxalate excretion was lowest in PH3 patients compared with …
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P Singh, JK Viehman, RA Mehta, AG Cogal, L Hasadsri… - Nephrology Dialysis Transplantation, 2022