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Primary hyperoxaluria type 2 in children
Sally A Johnson1, Gill Rumsby, David Cregeen
1Department of Nephrology, Birmingham Children's Hospital NHS Trust, Steelhouse Lane, Birmingham B4 6NH, UK.
Pediatric Nephrology (Berlin, Germany)
|August 20, 2002
Summary
Primary hyperoxaluria type 2 (PH2) is a rare condition causing excess oxalate. This study identified 13 new pediatric cases, expanding the known PH2 patient cohort and highlighting the need for urinary glycerate testing in children with nephrolithiasis.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Primary hyperoxalurias (PH) are rare genetic disorders.
- Primary hyperoxaluria type 2 (PH2) involves overproduction of oxalate and L-glycerate.
- PH2 is exceptionally rare, with only 24 reported cases globally.
Purpose of the Study:
- To describe a cohort of children diagnosed with PH2.
- To investigate the genetic basis of PH2 in affected families.
- To characterize the clinical presentation and renal function in pediatric PH2 patients.
Main Methods:
- Retrospective analysis of 13 pediatric patients with PH2.
- DNA mutational analysis of the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene.
- Clinical data review including age at diagnosis, presenting symptoms, and renal function.
Main Results:
- The study describes the largest single-center cohort of 13 children with PH2.
- Mutations in the GRHPR gene were identified in two of five families.
- The median age of diagnosis was 1.7 years; nephrolithiasis occurred in five children.
- Renal function was generally preserved at diagnosis.
Conclusions:
- PH2 may be more common than previously thought, suggesting urinary glycerate measurement in children with hyperoxaluria-related nephrolithiasis.
- Genetic testing for GRHPR mutations can aid in PH2 diagnosis.
- Early diagnosis and monitoring are crucial for managing PH2.