ADDITIONAL RESOURCES ON PH1
Find links to advocacy organizations, information on testing and research resources, and primary hyperoxaluria type 1 (PH1) educational materials below.
TESTING AND DISEASE INFORMATION
One option for genetic testing for PH1
Alnylam Pharmaceuticals sponsors third-party genetic testing and counselling for individuals who may carry gene mutations known to be associated with PH1.
Downloads and videos
Videos
When kidney stones may be a sign of something more serious1
Learn about when a systemic condition may be behind kidney stone formation and how genetic testing can help confirm a diagnosis.1
PH1 mechanism of disease
Learn how genetic mutation leads to PH1 and its complications1,2
Patient perspectives: Zoe describes life with PH1
After a history of kidney stones, a serious health event led to Zoe's diagnosis of PH1. Watch Zoe explain what her genetic disease means for her and her family.
Patients perspectives: Margarita describes her son's journey to a PH1 diagnosis and beyond
Margarita knew something was wrong with her son, Mario, when he was three years old. Following his PH1 diagnosis, Margarita became a founding member of APHES, a PH1 patient association in Spain.
Reference materials
PH1 Brochure
When kidney stones may be a sign of something more serious. An overview of this metabolic stone disease.
Can you spot the signs of PH1?
A one-page infographic detailing the signs of hyperoxaluria.
PH1 information sheet
A single-page handout for patients to share with others to help them understand PH1.
How to diagnose PH1
Information about the PH1 hallmark clinical signs, the additional investigations to be carried out and the recommended procedure in case of hyperoxaluria.
Quick guide to genetic disorders of urolithiasis
Information about diagnosing genetic disorders of urolithiasis, including key signs and a kidney stone composition analysis. Produced in collaboration with a nephrologist and a urologist.
ADVOCACY AND PROFESSIONAL ORGANISATIONS
Oxalosis & Hyperoxaluria Foundation (OHF)
OHF supports clinicians and patients in the hyperoxaluria community through education, advocacy, and grants and funding for research.
European Hyperoxaluria Consortium OxalEurope
OxalEurope serves as a hyperoxaluria-centered consortium providing clinical guidelines for screening, guidance, diagnosis, and treatment for PH1.
