Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

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
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Clinical and cost-effectiveness of eculizumab withdrawal in atypical haemolytic uraemic syndrome: the SETS aHUS multi-centre, open-label, prospective and single-arm study.

Health technology assessment (Winchester, England)·2026
Same author

Final Results of the ILLUMINATE-A Phase 3 Clinical Trial of Lumasiran for Primary Hyperoxaluria 1.

Clinical journal of the American Society of Nephrology : CJASN·2025
Same author

Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.

World journal of urology·2025
Same author

Proteolytic profiling of human plasma reveals an immunoactive complement C3 fragment.

The EMBO journal·2025
Same author

Long-term lumasiran therapy final results from a Phase 2 open-label extension study in primary hyperoxaluria.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2025
Same author

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.

Clinical kidney journal·2025
Same journal

Chronic hyponatraemia with a reset osmostat: when abnormal is normal.

Pediatric nephrology (Berlin, Germany)·2026
Same journal

Clinical value of repeat kidney biopsy in pediatric IgA vasculitis nephritis.

Pediatric nephrology (Berlin, Germany)·2026
Same journal

The European Society of Pediatric Nephrology Board Examination-a certified benchmark of knowledge and clinical practice with global recognition.

Pediatric nephrology (Berlin, Germany)·2026
Same journal

A rare but misleading cause of hematuria in hemophilia A: renal pelvic hemorrhage mimicking tumor.

Pediatric nephrology (Berlin, Germany)·2026
Same journal

Diastolic echocardiographic parameters identify pediatric kidney transplant recipients with structural myocardial alterations.

Pediatric nephrology (Berlin, Germany)·2026
Same journal

Pediatric clinician perspectives on clinical decision support tools for chronic kidney disease risk after preterm birth.

Pediatric nephrology (Berlin, Germany)·2026
See all related articles

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.

Related Experiment Videos

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.