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Primary hyperoxaluria type 1 in Japan.

Tatsuya Takayama1, Masao Nagata, Arata Ichiyama

  • 1Department of Urology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, Shizuoka, Japan. takayama@hama-med.ac.jp

American Journal of Nephrology
|June 18, 2005
PubMed
Summary
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Primary hyperoxaluria (PH) affects Japanese patients, with later diagnoses often leading to end-stage renal failure. Early detection and combined liver/kidney transplantation may improve outcomes for PH patients in Japan.

Area of Science:

  • Nephrology
  • Genetics
  • Metabolic Disorders

Background:

  • Primary hyperoxaluria (PH) is a rare genetic disorder.
  • The current status and characteristics of PH in Japan have not been comprehensively surveyed.

Purpose of the Study:

  • To review and analyze the status of Japanese patients diagnosed with primary hyperoxaluria.
  • To understand the clinical presentation, diagnosis, treatment outcomes, and survival rates of PH in Japan.

Main Methods:

  • A literature review of Japanese patients diagnosed with PH between 1962 and 2003.
  • Analysis of patient demographics, age at diagnosis and symptom onset, renal function, diagnostic methods (including liver biopsy and enzymatic phenotyping), and treatment outcomes (kidney and combined liver/kidney transplantation).

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Main Results:

  • Fifty-nine PH patients were identified, with a median age of 17 years at diagnosis and 13 years at symptom onset.
  • Nearly half of patients diagnosed over 20 years old presented with end-stage renal failure (ESRF).
  • Combined liver/kidney transplantation showed a higher success rate (3 out of 4 cases) compared to kidney transplantation alone (2 out of 9 cases).

Conclusions:

  • Japanese PH patients, particularly PH1, may exhibit milder symptoms and lower infantile morbidity compared to Western populations.
  • Establishing an early detection system for PH1 and increasing the application of combined liver/kidney transplantation are recommended for improved patient management.