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

Genetic analysis--a diagnostic tool for primary hyperoxaluria type I.

Danko Milosevic1, Choni Rinat, Danica Batinic

  • 1Department of Nephrology, Children's University Hospital, Zagreb, Croatia.

Pediatric Nephrology (Berlin, Germany)
|November 15, 2002
PubMed
Summary

Primary hyperoxaluria type I diagnosis can be confirmed through AGXT gene mutation analysis. This non-invasive method aids in identifying the metabolic disease when liver enzyme assays are unavailable.

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

Thrombotic Microangiopathy in Childhood Steroid-Resistant Nephrotic Syndrome: Case Series.

Nephron·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

Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study.

Kidney medicine·2025
Same author

ETIOLOGY OF URINARY TRACT INFECTIONS IN NEONATES AND BACTERIAL RESISTANCE IN CROATIA.

Acta clinica Croatica·2025
Same author

Emphysematous pyelonephritis and infection-related calculi.

Pediatric nephrology (Berlin, Germany)·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

Area of Science:

  • Genetics
  • Metabolic Diseases
  • Nephrology

Background:

  • Primary hyperoxaluria type I (PH1) is a genetic metabolic disorder.
  • It involves excessive oxalate production by the liver and kidney excretion.
  • PH1 presents with a range of kidney issues, from stones to failure.

Purpose of the Study:

  • To explore alternative diagnostic methods for PH1.
  • To confirm PH1 diagnosis using genetic analysis when liver enzyme assays are inaccessible.
  • To report on PH1 cases in Croatian families.

Main Methods:

  • Clinical diagnosis based on nephrolithiasis, nephrocalcinosis, and elevated urinary oxalate/glycolate.
  • AGXT gene mutation analysis for PH1 diagnosis.
  • Screening of first-degree relatives for mutations.

Related Experiment Videos

Main Results:

  • Diagnosis in three Croatian families was based on clinical findings and urinary markers.
  • AGXT gene mutation analysis identified specific mutations (C156ins, G630A).
  • An asymptomatic sibling was identified through mutation screening.

Conclusions:

  • AGXT gene mutation analysis is a reliable, non-invasive diagnostic tool for PH1.
  • Genetic testing can replace traditional liver enzyme assays.
  • This approach improves diagnostic accessibility for PH1.