Disease Manifestations, Treatment, and Healthcare Resource Use (HRU) in Primary Hyperoxaluria Type 1 (PH1): An International Online Chart Review Study
Bibliographic record
Abstract
Background: Few multinational studies have examined the clinical burden of PH1. This online retrospective chart review evaluated disease manifestations, treatments, and HRU in a large international sample of PH1 patients. Methods: Nephrologists in the US, Canada, UK, France, Germany, and Italy provided data from PH1 patients in their care via an online platform. Eligible patients had PH1 confirmed by genetic testing or liver biopsy and ≥2 office visits from 2016-2019. Data on disease manifestations, treatment and HRU were collected. Results: Overall, 86 patients (56% from North America; 63% female) from 41 unique providers were analyzed. Mean age at diagnosis was 21.2±11.6 yrs, with a mean of 6.7±9 yrs to diagnosis from first symptoms. Mean age at index (first office visit in past 3 yrs) was 25.3 yrs; 71% had stage ≥3 CKD at index (median eGFR: 44mL/min/1.73m2). Mean follow-up was 1.6±1 yrs. The most common PH1 manifestations during follow-up were uro-/nephrolithiasis (57.1%) and urinary tract infection (UTI; 56.0%). Additionally, 29.8% of patients had ≥1 acute renal decline episode, of which 53% resulted in lasting renal function loss. In total, 11.6% of patients had ESKD at or before index, and 8.1% developed ESKD post-index; 2.3% had ESKD with timing not noted. Dialysis and transplant (liver and/or kidney) at any time were reported in 22.2% and 17.1%, respectively. In terms of HRU during follow-up, 51% of patients required ≥1 stone removal procedure (lithotripsy: 38%; ureteroscopy: 28%; percutaneous nephrolithotomy: 9%). Hospitalization and ER visits were required by 85.9% and 84.6% of patients, respectively, where data was reported (n=73). Conclusions: There is significant delay between PH1 presentation and diagnosis. Patients with PH1 suffer progressive renal function decline, with many progressing to ESKD. During follow-up, almost all patients required ER visits and hospitalization, and most had stone episodes and UTIs and required stone removal procedures. These findings highlight an ever-present risk of acute events that contribute to ongoing morbidity, HRU and impaired quality of life, underscoring the need for early intervention with effective PH1 treatment. Funding: Commercial Support - Alnylam Pharmaceuticals
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.003 | 0.005 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".