Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2. Issue 5 (5th February 2021)

• Record Type: Journal Article
• Authors: Singh, Prince; Viehman, Jason K; Mehta, Ramila A; Cogal, Andrea G; Hasadsri, Linda; Oglesbee, Devin; Olson, Julie B; Seide, Barbara M; Sas, David J; Harris, Peter C; Lieske, John C; Milliner, Dawn S
• Is Part Of: Nephrology dialysis transplantation. Volume 37:Issue 5(2022)
• Page Start: 869
• Page End: 875
• Publication Date: 2021-02-05
• Subjects: nephrocalcinosis -- oxalate -- primary hyperoxaluria -- stone; Nephrology -- Periodicals; Hemodialysis -- Periodicals; Kidneys -- Transplantation -- Periodicals; Hemodialysis; Kidneys -- Transplantation; Nephrology; Periodicals; 616.61
• DOI: 10.1093/ndt/gfab027
• Languages: English
• ISSNs: 0931-0509

Abstract

Abstract: 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 PH1 and PH2 (1.1 versus 1.6 and 1.5 mmol/day/1.73 m 2, respectively, P < 0.001) while urine calcium was highest in PH3 (112 versus 51 and 98 mg/day/1.73 m 2 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. Conclusions: 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.