biostudies-literatureSingh PNCATS NIH HHSAmerican Society of NephrologyNIDDK NIH HHSNational Institute of Diabetes and Digestive and Kidney DiseasesNational Institutes of Health Rare Diseases Clinical Research NetworkOHFNIHOHF International Hyperoxaluria Workshop869-875https://www.ebi.ac.uk/biostudies/studies/S-EPMC9214566biostudies-literatureUnknown37(5)<h4>Background</h4>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.<h4>Methods</h4>Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62).<h4>Results</h4>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 PH1 and PH2 (1.1 versus 1.6 and 1.5 mmol/day/1.73 m2, respectively, P < 0.001) while urine calcium was highest in PH3 (112 versus 51 and 98 mg/day/1.73 m2 in PH1 and PH2, respectively, P < 0.001). Stone events per decade of life were similar across the age span and the three PH types. At 40 years of age, 97% of PH3 patients had not progressed to end-stage kidney disease compared with 36% PH1 and 66% PH2 patients.<h4>Conclusions</h4>Patients with all forms of PH experience lifelong stone events, often beginning in childhood. Kidney failure is common in PH1 but rare in PH3. Longer-term follow-up of larger cohorts will be important for a more complete understanding of the PH3 phenotype.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationClinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.PMC9214566U54-DK083908R21 TR003174U54 DK083908Seide BMHasadsri LMehta RALieske JCViehman JKSingh POlson JBOglesbee DSas DJHarris PCMilliner DSCogal AGfalseClinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.<h4>Background</h4>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.<h4>Methods</h4>Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62).<h4>Results</h4>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 PH1 and PH2 (1.1 versus 1.6 and 1.5 mmol/day/1.73 m2, respectively, P < 0.001) while urine calcium was highest in PH3 (112 versus 51 and 98 mg/day/1.73 m2 in PH1 and PH2, respectively, P < 0.001). Stone events per decade of life were similar across the age span and the three PH types. At 40 years of age, 97% of PH3 patients had not progressed to end-stage kidney disease compared with 36% PH1 and 66% PH2 patients.<h4>Conclusions</h4>Patients with all forms of PH experience lifelong stone events, often beginning in childhood. Kidney failure is common in PH1 but rare in PH3. Longer-term follow-up of larger cohorts will be important for a more complete understanding of the PH3 phenotype.2022-01-01T00:00:00Z2022 Apr2024-11-20T06:55:42.078Z2024-11-20T06:55:42.078ZS-EPMC92145663354376010.1093/ndt/gfab027