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Current status of primary hyperoxaluria type 1 in Japan
Tomohide Ogawa1,2, Keita Okamoto3, Mao Yamamoto3
1Department of Clinical Medical Sciences, International University of Health and Welfare, Graduate School of Medicine, Chiba, Japan.
Urolithiasis
|January 16, 2026
Summary
Primary hyperoxaluria type 1 (PH1) patients in Japan are now diagnosed younger, leading to improved survival rates. Early detection and treatment are crucial for better outcomes in this rare genetic disorder.
Area of Science:
- Nephrology
- Genetics
- Rare Diseases
Background:
- Primary hyperoxaluria (PH) is a rare autosomal recessive disorder causing excessive urinary oxalate.
- Primary hyperoxaluria type 1 (PH1), the most common form, results from a deficiency in the liver enzyme alanine:glyoxylate aminotransferase.
- PH1 has not been extensively studied in Japan for two decades, with limited global longitudinal data.
Purpose of the Study:
- To analyze the current status and trends of PH1 in Japan.
- To evaluate diagnostic ages, disease progression, and survival rates in Japanese PH1 patients.
Main Methods:
- A literature review of PH1 cases reported in Japan from 2003 to 2023.
- Analysis of patient demographics, age at onset and diagnosis, progression to end-stage renal disease (ESRD), and overall survival (OS).
Main Results:
- Twenty PH1 patients were identified; median onset age was 4.21 years, and median diagnosis age was 5.5 years.
- Half of patients diagnosed before 18 had already reached ESRD; all diagnosed after 18 had ESRD.
- The overall survival rate was 81% at 5, 10, and 20 years post-diagnosis.
Conclusions:
- Over the last 20 years, PH1 diagnosis ages in Japan have decreased, and survival rates have increased.
- Earlier diagnosis and intervention are associated with improved outcomes for PH1 patients.
- Further longitudinal studies are needed to confirm these trends and optimize patient management.
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