{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T22:04:52Z","timestamp":1793484292711,"version":"4.5.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Novo Nordisk"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Primary hyperoxaluria (PH) is a family of three rare, autosomal recessive genetic disorders that can result in recurrent kidney stones, progressive chronic kidney disease (CKD), and kidney failure. PH prevalence is underestimated due to its varying presentation and lack of awareness; delays in diagnosis can lead to substantial burdens on the healthcare system.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>This retrospective, observational claims analysis evaluated disease burden and cost of care in patients who had PH, PH with CKD, or CKD alone. Data from the Merative MarketScan Commercial Claims and Encounters databases and the Centers for Medicare and Medicaid Services Medicare Fee-for-Service Limited Data Set were assessed during the study period of January 1, 2017, to December 31, 2021. PH prevalence was calculated based on the sample population within each data source.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The study sample included 326 patients who had PH; applying projection factors to the US population, an estimated 4500 patients had a diagnosis of PH in 2021. Among these patients, 37% were estimated to have PH with CKD (65% of whom had early CKD, 33% had advanced CKD, and 2% had stage reported as unknown). Patients who had CKD alone (<jats:italic>n<\/jats:italic>\u2009=\u2009845) were matched with patients who had PH with CKD (<jats:italic>n<\/jats:italic>\u2009=\u2009169). Patients who had PH with CKD were significantly more burdened with kidney stones (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01) than patients who had CKD alone. Higher rates of pharmacotherapy and medical treatments were observed in patients who had PH with CKD versus patients who had CKD alone. Median semi-annual total all-cause healthcare costs were greater in patients who had PH with CKD than in patients with CKD alone, regardless of CKD stage ($54,154 in patients who had PH with advanced CKD vs. $35,016 in patients with advanced CKD alone; $9,784 in patients who had PH with early CKD vs. $5,572 in patients with early CKD alone).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>CKD stage progression among patients who had PH is associated with increasing all-cause costs, suggesting that early diagnosis and treatment of PH to limit the progression to advanced CKD could represent an opportunity to alleviate not only PH symptoms, but also the healthcare cost burden.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s12882-025-04460-1","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T13:37:17Z","timestamp":1760621837000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Real-world burden of primary hyperoxaluria with chronic kidney disease in the United States: a retrospective administrative claims analysis"],"prefix":"10.1186","volume":"26","author":[{"given":"David S.","family":"Goldfarb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Modersitzki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey R.","family":"Skaar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Salem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing Voon","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,16]]},"reference":[{"issue":"8","key":"4460_CR1","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1038\/nrneph.2012.113","volume":"8","author":"B Hoppe","year":"2012","unstructured":"Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012;8(8):467\u201375.","journal-title":"Nat Rev Nephrol"},{"issue":"7","key":"4460_CR2","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1056\/NEJMra1301564","volume":"369","author":"P Cochat","year":"2013","unstructured":"Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369(7):649\u201358.","journal-title":"N Engl J Med"},{"issue":"10","key":"4460_CR3","doi-asserted-by":"publisher","first-page":"2559","DOI":"10.1681\/ASN.2014070698","volume":"26","author":"K Hopp","year":"2015","unstructured":"Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC. Rare kidney stone C: Phenotype-Genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol. 2015;26(10):2559\u201370.","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"4460_CR4","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1038\/ki.2009.435","volume":"77","author":"J Harambat","year":"2010","unstructured":"Harambat J, Fargue S, Acquaviva C, Gagnadoux MF, Janssen F, Liutkus A, Mourani C, Macher MA, Abramowicz D, Legendre C, et al. Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010;77(5):443\u20139.","journal-title":"Kidney Int"},{"issue":"6","key":"4460_CR5","doi-asserted-by":"publisher","first-page":"1389","DOI":"10.1016\/j.kint.2019.08.018","volume":"96","author":"SF Garrelfs","year":"2019","unstructured":"Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, Oosterveld MJS, Pelle A, Neuhaus T, Adams B, et al. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int. 2019;96(6):1389\u201399.","journal-title":"Kidney Int"},{"issue":"3","key":"4460_CR6","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1016\/j.kint.2021.03.031","volume":"100","author":"C Martin-Higueras","year":"2021","unstructured":"Martin-Higueras C, Garrelfs SF, Groothoff JW, Jacob DE, Moochhala SH, Bacchetta J, Acquaviva C, Zaniew M, Sikora P, Beck BB, et al. A report from the European hyperoxaluria consortium (OxalEurope) registry on a large cohort of patients with primary hyperoxaluria type 3. Kidney Int. 2021;100(3):621\u201335.","journal-title":"Kidney Int"},{"issue":"5","key":"4460_CR7","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1093\/ndt\/gfab027","volume":"37","author":"P Singh","year":"2022","unstructured":"Singh P, Viehman JK, Mehta RA, Cogal AG, Hasadsri L, Oglesbee D, Olson JB, Seide BM, Sas DJ, Harris PC, et al. Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2. Nephrol Dial Transpl. 2022;37(5):869\u201375.","journal-title":"Nephrol Dial Transpl"},{"issue":"10","key":"4460_CR8","doi-asserted-by":"publisher","first-page":"1807","DOI":"10.1007\/s00467-015-3090-x","volume":"30","author":"L Allard","year":"2015","unstructured":"Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, et al. Renal function can be impaired in children with primary hyperoxaluria type 3. Pediatr Nephrol. 2015;30(10):1807\u201313.","journal-title":"Pediatr Nephrol"},{"issue":"10","key":"4460_CR9","doi-asserted-by":"publisher","first-page":"3123","DOI":"10.1007\/s00467-021-05002-1","volume":"36","author":"E Ben-Shalom","year":"2021","unstructured":"Ben-Shalom E, Cytter-Kuint R, Rinat C, Becker-Cohen R, Tzvi-Behr S, Goichberg J, Peles V, Frishberg Y. Long-term complications of systemic oxalosis in children-a retrospective single-center cohort study. Pediatr Nephrol. 2021;36(10):3123\u201332.","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"4460_CR10","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/j.ekir.2021.11.020","volume":"7","author":"P Perrin","year":"2022","unstructured":"Perrin P, Olagne J, Delbello A, Bataille S, Mesnard L, Borni C, Moulin B, Caillard S. Granulomatous inflammation and hypercalcemia in patients with severe systemic oxalosis. Kidney Int Rep. 2022;7(2):343\u20139.","journal-title":"Kidney Int Rep"},{"key":"4460_CR11","unstructured":"National Organization for Rare Disorders. Primary Hyperoxaluria https:\/\/rarediseases.org\/rare-diseases\/primary-hyperoxaluria\/. [Accessed July 10 2024]."},{"issue":"Suppl 1","key":"4460_CR12","doi-asserted-by":"publisher","first-page":"i9","DOI":"10.1093\/ckj\/sfab232","volume":"15","author":"A Gupta","year":"2022","unstructured":"Gupta A, Somers MJG, Baum MA. Treatment of primary hyperoxaluria type 1. Clin Kidney J. 2022;15(Suppl 1):i9\u201313.","journal-title":"Clin Kidney J"},{"issue":"20","key":"4460_CR13","first-page":"e69","volume":"385","author":"SF Garrelfs","year":"2021","unstructured":"Garrelfs SF, Gansner JM, Lieske JC. Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1. Reply. N Engl J Med. 2021;385(20):e69.","journal-title":"N Engl J Med"},{"key":"4460_CR14","unstructured":"Novo Nordisk I, Plainsboro. NJ. 2023."},{"issue":"1","key":"4460_CR15","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1007\/s00240-023-01436-4","volume":"51","author":"DS Goldfarb","year":"2023","unstructured":"Goldfarb DS, Modersitzki F, Karafilidis J, Li-McLeod J. Healthcare utilization, quality of life, and work productivity associated with primary hyperoxaluria: a cross-sectional web-based US survey. Urolithiasis. 2023;51(1):72.","journal-title":"Urolithiasis"},{"issue":"3","key":"4460_CR16","first-page":"316","volume":"28","author":"L Mucha","year":"2022","unstructured":"Mucha L, Hoppe B, Silber A, Wang Z, Miyasato G, Skaar JR, Langman C. Clinical and economic impact of primary hyperoxaluria: a retrospective claims analysis. J Manag Care Spec Pharm. 2022;28(3):316\u201323.","journal-title":"J Manag Care Spec Pharm"},{"issue":"10 Suppl","key":"4460_CR17","first-page":"S163","volume":"23","author":"L Golestaneh","year":"2017","unstructured":"Golestaneh L, Alvarez PJ, Reaven NL, Funk SE, McGaughey KJ, Romero A, Brenner MS, Onuigbo M. All-cause costs increase exponentially with increased chronic kidney disease stage. 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BMC Nephrol. 2024;25(1):55.","journal-title":"BMC Nephrol"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-025-04460-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12882-025-04460-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-025-04460-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T13:37:20Z","timestamp":1760621840000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-025-04460-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,16]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["4460"],"URL":"https:\/\/doi.org\/10.1186\/s12882-025-04460-1","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,16]]},"assertion":[{"value":"23 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 September 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 October 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was conducted in accordance with the Declaration of Helsinki and International Conference on Harmonization-Good Clinical Practice guidelines. This study is non-interventional and is based on de-identified retrospective real-world claims data. Therefore, it is not considered human subject research and is exempt from IRB oversight.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"DSG: Consultant: Arbor Biotechnologies, Alnylam, Lilac Pharmaceuticals; Research: Novo Nordisk, Travere; Owner: Moonstone Nutrition, Inc. FM: Consultant: Halozyme.JRS: Employee of Trinity Life Sciences during the performance of this study and currently holds equity in Trinity Life Sciences; currently an employee of Novo Nordisk with stock\/stock options. OL: Employee of Trinity Life Sciences. SS is an employee of Novo Nordisk and holds stock\/stock options. JVC: Employee of Genesis Research Group, which received payment from Novo Nordisk to oversee this research.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"573"}}