{"doi":"10.1093/ndt/gfab027","title":"Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2","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 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. 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.","journal":"Nephrology Dialysis Transplantation","year":2021,"id":161837,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":55,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8025,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":677783,"name":"Jason K. Viehman","orcid":null,"position":1,"is_corresponding":false},{"id":377106,"name":"Ramila A. Mehta","orcid":"0000-0003-3769-3173","position":2,"is_corresponding":false},{"id":673088,"name":"Andrea G. Cogal","orcid":null,"position":3,"is_corresponding":false},{"id":350771,"name":"Linda Hasadsri","orcid":"0000-0003-1551-3215","position":4,"is_corresponding":false},{"id":480814,"name":"Devin Oglesbee","orcid":"0000-0002-7147-5527","position":5,"is_corresponding":false},{"id":677194,"name":"Julie B. Olson","orcid":"0000-0003-4517-0209","position":6,"is_corresponding":false},{"id":673090,"name":"Barbara M. Seide","orcid":null,"position":7,"is_corresponding":false},{"id":672237,"name":"David J. Sas","orcid":"0000-0003-4869-434X","position":8,"is_corresponding":false},{"id":318231,"name":"Peter C. Harris","orcid":"0000-0002-5304-6593","position":9,"is_corresponding":false},{"id":247050,"name":"John C. Lieske","orcid":"0000-0002-0202-5944","position":10,"is_corresponding":false},{"id":297968,"name":"Dawn S. Milliner","orcid":"0000-0003-4799-1668","position":11,"is_corresponding":false},{"id":677193,"name":"Prince Singh","orcid":"0000-0002-9486-6002","position":0,"is_corresponding":true}],"reference_count":39,"raw_metadata":null,"created_at":"2026-07-18T23:44:56.409311Z","pmid":"33543760","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}