Primary Hyperoxaluria Type 1 Disease Manifestations and Healthcare Utilization: A Multi-Country, Online, Chart Review Study
Open accessAbstract
Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that can result in irreversible damage to the kidneys and, eventually, extrarenal organs. While kidney failure is a known consequence of PH1, few studies to date have characterized clinical consequences of PH1 prior to kidney failure, and data on healthcare resource use outcomes across different stages of disease severity in PH1 are also limited. To help fill this knowledge gap, this study characterized the clinical and healthcare resource use (HRU) burden in patients with PH1 with varying stages of kidney disease. Methods: Nephrologists in the United States, Canada, United Kingdom, France, Germany, and Italy abstracted chart data from patients with PH1 under their care via an online questionnaire. Eligible patients had confirmed PH1 and ≥2 office visits from 2016 to 2019. Results: A total of 120 patients were analyzed (median age at diagnosis, 17.4 years old, median age at index 19.5 years old, median eGFR at index 45 ml/min/1.73 m 2; median follow-up 1.7 years). During follow-up, the most common PH1 manifestations were kidney stones and urinary tract infections (UTIs, both 56.8%), and the most common symptoms were fatigue/weakness (71.7%) and pain (64.6%). With regard to HRU during follow-up, 37.4% required lithotripsy, 31.3% required ureteroscopy, and 9.6% required nephrolithotomy. PH1-related hospitalizations and emergency/urgent care visits were noted for 84.0 and 81.6% of patients, respectively. Conclusions: The current study demonstrated that patients with PH1 across various stages of kidney disease exhibited a substantial clinical burden, including kidney stones, UTIs, fatigue/weakness, and pain, and required frequent HRU, including kidney stone procedures, hospitalizations, and emergency visits. These findings highlight the significant morbidity and HRU burden in patients with PH1.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Mutations in AGXT, predominantly expressed in periportal hepatocytes, result in primary hyperoxaluria type 1.
“For example, mutations in a single enzyme (AGXT), predominantly expressed in periportal hepatocytes, results in a life-threatening condition, primary hyperoxaluria type 1.26,156”
From Distinct hepatocyte identities in liver homeostasis and regeneration (2023) · cites this paper as [156]
The Introduction (page unavailable) states that mutations in the AGXT gene cause PH1 and that PH1 can have life-threatening consequences. It identifies AGXT as a gene, not an enzyme, and does not say it is predominantly expressed in periportal hepatocytes. (LLM, conf=0.87)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Prevalence of Anemia in Chronic Kidney Disease in the United States
Stauffer, M. E., & Fan, T. (2014) · PLoS ONE · doi:10.1371/journal.pone.0084943 · Cited by 670 · see citing works
Cochat, P., & Rumsby, G. (2013) · New England Journal of Medicine · doi:10.1056/nejmra1301564 · Cited by 588 · see citing works
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1
Garrelfs, S. F., Frishberg, Y., Hulton, S. A., Koren, M. J., O’Riordan, W. D., Cochat, P., Deschênes, G., Shasha-Lavsky, H., Saland, J. M., van’t Hoff, W. G., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2021712 · Cited by 531 · see citing works
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I
Danpure, C. J., & Jennings, P. R. (1986) · FEBS Letters · doi:10.1016/0014-5793(86)80563-4 · Cited by 349 · see citing works
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
Cochat, P., Hulton, S., Acquaviva, C., Danpure, C. J., Daudon, M., Marchi, M., Fargue, S., Groothoff, J. W., Harambat, J., Höppe, B., et al. (2012) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfs078 · Cited by 333 · see citing works
Organisation Coopération, Only, E. T., Aiken, L. H., Cheung, R., & Jel Classification, I. (2010) · OECD health working papers · doi:10.1787/18152015 · Cited by 313 · see citing works
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
Hopp, K., Cogal, A. G., Bergstralh, E. J., Seide, B. M., Olson, J. B., Meek, A. M., Lieske, J. C., Milliner, D. S., & Harris, P. C. (2015) · Journal of the American Society of Nephrology · doi:10.1681/asn.2014070698 · Cited by 267 · see citing works
A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria
Höppe, B., & Langman, C. B. (2003) · Pediatric Nephrology · doi:10.1007/s00467-003-1234-x · Cited by 188 · see citing works
Epidemiology of primary hyperoxaluria type 1
Cochat, P., Deloraine, A., Rotily, M., Olive, M. F., Liponski, I., Deries, N., & Pediatrique, O. B. O. T. S. D. N. A. T. S. D. N. (1995) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/10.supp8.3 · Cited by 186 · see citing works
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome
van Woerden, C. S. (2003) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/18.2.273 · Cited by 181 · see citing works
Jamieson, N. V. (2005) · American Journal of Nephrology · doi:10.1159/000086359 · Cited by 158 · see citing works
Harambat, J., Fargue, S., Acquaviva, C., Gagnadoux, M., Janssen, F., Liutkus, A., Mourani, C. C., Macher, M., Abramowicz, D., Legendre, C. M., et al. (2009) · Kidney International · doi:10.1038/ki.2009.435 · Cited by 156 · see citing works
International Registry for Primary Hyperoxaluria
Lieske, J. C., Monico, C. G., Holmes, W. S., Bergstralh, E. J., Slezak, J. M., Rohlinger, A. L., Olson, J. B., & Milliner, D. S. (2005) · American Journal of Nephrology · doi:10.1159/000086360 · Cited by 150 · see citing works
Mandrile, G., van Woerden, C. S., Berchialla, P., Beck, B. B., Acquaviva, C., Hulton, S., & Rumsby, G. (2014) · Kidney International · doi:10.1038/ki.2014.222 · Cited by 137 · see citing works
Management of primary hyperoxaluria: efficacy of oral citrate administration
Leumann, E., Höppe, B., & Neuhaus, T. J. (1993) · Pediatric Nephrology · doi:10.1007/bf00864405 · Cited by 130 · see citing works
Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure
Höppe, B., Graf, D., Offner, G., Latta, K., Byrd, D. J., Michalk, D. V., & Brodehl, J. (1996) · Pediatric Nephrology · doi:10.1007/s004670050145 · Cited by 101 · see citing works
Shapiro, R., Weissman, I., Mandel, H., Eisenstein, B., Ben‐Ari, Z., Bar-Nathan, N., Zehavi, I., Dinari, G., & Mor, E. (2001) · Transplantation · doi:10.1097/00007890-200108150-00012 · Cited by 84 · see citing works
Cardiac Abnormalities in Primary Hyperoxaluria
Mookadam, F., Smith, T., Jiamsripong, P., Moustafa, S., Monico, C. G., Lieske, J. C., & Milliner, D. S. (2010) · Circulation Journal · doi:10.1253/circj.cj-10-0107 · Cited by 81 · see citing works
Molecular basis of primary hyperoxaluria: clues to innovative treatments
Dindo, M., Conter, C., Oppici, E., Ceccarelli, V., Marinucci, L., & Cellini, B. (2018) · Urolithiasis · doi:10.1007/s00240-018-1089-z · Cited by 72 · see citing works
End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcome
Kamoun, A., & Lakhoua, R. (1996) · Pediatric Nephrology · doi:10.1007/s004670050143 · Cited by 70 · see citing works
Primary Hyperoxaluria – The German Experience
Höppe, B., Latta, K., von Schnakenburg, C., & Kemper, M. J. (2005) · American Journal of Nephrology · doi:10.1159/000086358 · Cited by 70 · see citing works
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1
Fargue, S., Harambat, J., Gagnadoux, M., Tsimaratos, M., Janssen, F., Llanas, B., Berthélémé, J.-P., Boudailliez, B. R., Champion, G., Guyot, C., et al. (2009) · Kidney International · doi:10.1038/ki.2009.237 · Cited by 68 · see citing works
Oxalate Balance Studies in Patients on Hemodialysis for Type I Primary Hyperoxaluria
Marangella, M., Petrarulo, M., Cosseddu, D., Vitale, C., & Linari, F. (1992) · American Journal of Kidney Diseases · doi:10.1016/s0272-6386(12)80833-x · Cited by 67 · see citing works
Perinpam, M., Enders, F., Mara, K. C., Vaughan, L. E., Mehta, R. A., Voskoboev, N., Milliner, D. S., & Lieske, J. C. (2017) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2017.07.017 · Cited by 61 · see citing works
McGregor, T. L., Hunt, K. A., Yee, E., Mason, D., Nioi, P., Ticau, S., Pelosi, M., Loken, P. R., Finer, S., Lawlor, D. A., et al. (2020) · eLife · doi:10.7554/elife.54363 · Cited by 57 · see citing works
de Lorenzo, V., Alvarez, A., Torres, A., Torregrosa, V., Hernández, D., & SALIDO, E. C. (2006) · Kidney International · doi:10.1038/sj.ki.5001758 · Cited by 56 · see citing works
Bonato, F. O. B., Lemos, M. M., Cassiolato, J. L., & Canziani, M. E. F. (2013) · PLoS ONE · doi:10.1371/journal.pone.0066036 · Cited by 34 · see citing works
Primary Hyperoxaluria Type 1 in Japan
Takayama, T., Nagata, M., Ichiyama, A., & Ozono, S. (2005) · American Journal of Nephrology · doi:10.1159/000086361 · Cited by 26 · see citing works
Lawrence, J. E., & Wattenberg, D. J. (2020) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.13831119 · Cited by 18 · see citing works
Karadağ, S., Gürsu, M., Aydın, Z., Uzun, S., Doğan, Ö., Öztürk, S., & Kazancıoğlu, R. (2011) · Hemodialysis International · doi:10.1111/j.1542-4758.2011.00573.x · Cited by 10 · see citing works
Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals
Mykytiv, V., & García, F. C. (2017) · Hematology/Oncology and Stem Cell Therapy · doi:10.1016/j.hemonc.2017.07.007 · Cited by 9 · see citing works
Wang, X., Bhutani, G., Vaughan, L. E., Enders, F., Haskic, Z., Milliner, D. S., & Lieske, J. C. (2020) · BMC Nephrology · doi:10.1186/s12882-020-01783-z · Cited by 8 · see citing works
Self-citationEl-Reshaid, K., Al-Bader, D., & Madda, J. P. (2016) · Saudi Journal of Kidney Diseases and Transplantation · doi:10.4103/1319-2442.182440 · Cited by 4 · see citing works
Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report
Hasan, A., Maynard, S. I., Santoriello, D., & Schairer, H. (2018) · Case Reports in Nephrology and Dialysis · doi:10.1159/000493091 · Cited by 1 · see citing works
Flagged first, then by citations
Research works printed but not linked: 3
- [8]McGregor TL Hunt KA Nioi P Mason D Ticau S Pelosi M. Deep phenotyping of a healthy human HAOI knockout informs therapeutic development for primary hyperoxaluria type I. BioRxiv. (2019) 10.1101/524256 · DOI
- [13]Milliner DS Harris PC Cogal AG Lieske JC. Primary Hyperoxaluria Type 1 (GeneReviews®). Available online at: https://www.ncbi.nlm.nih.gov/books/NBK1283/ (accessed April 3, 2020).
- [28]Organisation for Economic Cooperation and Development (OECD). Hospital Discharge Rates. Available online at: https://www.oecd-ilibrary.org/content/data/5880c955-en (accessed August 12, 2020).
Cited by
Sorted by citations
Spatiotemporal Metabolic Liver Zonation and Consequences on Pathophysiology
Martini, T., Naef, F., & Tchorz, J. S. (2023) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-031521-024831 · Cited by 113 · see citing works
Distinct hepatocyte identities in liver homeostasis and regeneration
Chen, F., Schönberger, K., & Tchorz, J. S. (2023) · JHEP Reports · doi:10.1016/j.jhepr.2023.100779 · Cited by 30 · see citing works
Clinical Evidence Supporting FDA Approval of Gene and RNA Therapies for Rare Inherited Conditions
Odouard, I. C., Ballreich, J. M., Lee, B., & Socal, M. P. (2024) · Pediatric Drugs · doi:10.1007/s40272-024-00645-7 · Cited by 9 · see citing works
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study
Bakkaloglu, S. A., Büyükkaragöz, B., Pınarbaşı, A. S., Leventoğlu, E., Saygılı, S., Çomak, E., Yıldırım, Z. N. Y., Akıncı, N., Dursun, İ., Bayazıt, A. K., et al. (2024) · Nephrology · doi:10.1111/nep.14273 · Cited by 6 · see citing works
Goldfarb, D. S., Modersitzki, F., Karafilidis, J., & Li-McLeod, J. M. (2023) · Urolithiasis · doi:10.1007/s00240-023-01436-4 · Cited by 6 · see citing works
Final Results of the ILLUMINATE-A Phase 3 Clinical Trial of Lumasiran for Primary Hyperoxaluria 1
Frishberg, Y., Saland, J. M., Lieske, J. C., Du, W., Coenen, M., Hogan, J., Leclerc, A.-L. S., Groothoff, J. W., Kaspar, C. D. W., Gansner, J. M., et al. (2025) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.0000000916 · Cited by 5 · see citing works
Zhu, X., Cheung, W. W., Zhang, A., & Ding, G. (2024) · Kidney Diseases · doi:10.1159/000539516 · Cited by 3 · see citing works
Danese, D., Goss, D., DeMuro, C., & Gupta, C. (2023) · BMC Nephrology · doi:10.1186/s12882-023-03365-1 · Cited by 2 · see citing works
Self-citationAlabdullah, H., Soqia, J., & Douri, T. H. (2024) · Clinical Case Reports · doi:10.1002/ccr3.8423 · Cited by 2 · see citing works
Development of RNA interference-based therapy for rare genetic diseases
Ahmad, M. U., & Dewi, S. (2024) · Acta Biochimica Indonesiana · doi:10.32889/actabioina.171 · Cited by 2 · see citing works
Cunneely, O. P., Maluf, F. C., Fargue, S., Knight, J., Assimos, D. G., & Wood, K. D. (2025) · Urologic Clinics of North America · doi:10.1016/j.ucl.2025.04.012
Hassan, S. M. S., Amjad, N., Rab, M., Malik, A. Y. E. S. H. A., Jamal, A., Fatima, M., Sadiq, M. H., Khan, A., & Khalid, M. (2026) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000005158
Akbörü, E. G., Leventoglu, E., Pınarbaşı, A. S., Kara, M. A., Kılıç, B. D., Tabel, Y., Beyazit, A. K., Yıldız, N., Göknar, N., Dursun, İ., et al. (2026) · Pediatric Transplantation · doi:10.1111/petr.70401
- Authors
- Wang, X., Danese, D., Brown, T., Baldwin, J., Sajeev, G., Cook, E. E., Wang, Y., Xu, C., Yang, H., & Moritz, M. L.
- Affiliations
- Cleveland Clinic (US)
- Alnylam Pharmaceuticals (United States) (US)
- Analysis Group (United States) (US)
- University of Pittsburgh (US)
- Corresponding author
- Moritz, Michael L.
- ORCID
- Venue
- Frontiers in Medicine
- Publisher
- Frontiers Media SA
- Published
- 2021-09-20
- Volume
- 8
- Pages
- 703305-703305
- ISSN
- 2296-858X (ISSN-L)
- PMC
- PMC8488346
- OpenAlex
- W3200561142
- Cited by
- 13
- References
- 34
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 5 · 2023: 4
- FWCI
- 1.46
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Frontiers in Medicine (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Alnylam Pharmaceuticals
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Kidney Stones and Urolithiasis Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Nephrotoxicity and Medicinal Plants
- Keywords
- primary hyperoxaluria type 1, healthcare resource utilization, kidney stones, urinary tract infection, fatigue, pain, hospitalization, emergency department visits, nephrolithotomy, ureteroscopy, lithotrity, kidney disease, clinical burden
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
