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 INFORMATION
One option for genetic testing for PH1
Alnylam Pharmaceuticals sponsors third-party genetic testing and counseling for individuals who may carry gene mutations known to be associated with PH1.
DISEASE INFORMATION
Downloads and Videos
Quick-reference and downloadable resources that detail critical information about PH1, diagnosis, and select management options.
Diagnostic Considerations
A one-pager highlighting the signs and symptoms of PH1 along with diagnosing and testing options.
PH1 Brochure
An overview of PH1. Review the signs, symptoms, mechanism of disease, and diagnostic process and gain insight into how it may affect your patients.
When Kidney Stones May Be a Sign of Something More Serious
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 complications.2,3
Kidney Stones and PH1: When Are Kidney Stones a Sign of Something Rare?
Pediatric urologist and clinical epidemiologist Dr Gregory Tasian highlights the key clinical signs of when kidney stones may be caused by a rare condition like PH1 in children and adults.1,4
Genetic Testing: Providing a Confirmatory Diagnosis of PH1
Nephrologist Dr Matthew Breeggemann addresses when to suspect PH1 based on oxalate levels and the importance of genetic testing in confirming a PH1 diagnosis.2,5
Management of PH1: What Is the Role of Vitamin B6?
Nephrologist Dr David S. Goldfarb discusses the potential benefit vitamin B6 supplementation can have on oxalate production for patients with PH1, highlighting specific AGXT gene mutations that respond well.6,7
PH1 Stories
Patient stories and clinical patient profiles that detail examples of some signs/symptoms of PH1, as well as diagnosis and management of the disease.
Patient Perspectives: The Skinner Family Describes Life With PH1
Three children in the Skinner family were diagnosed with PH1. Watch parents Natalie and Jared discuss their PH1 journey.
Importance of Prompt and Consistent Management4,6
See how prompt and continued management is key in PH1 in this hypothetical case study of a pediatric patient who experiences a rapid and progressive decline in kidney function.
PH1 Management Challenges
Learn more about navigating the challenges and importance of continued PH1 management through this hypothetical case study of a 1-year-old’s diagnosis with PH1.
Rapid Kidney Function Decline
See the effects of inconsistent management and monitoring in this hypothetical case study of an adult patient with PH1 experiencing a rapid decline in kidney function.
Identifying High-risk Factors in Recurrent Stone Formers
Learn how high-risk factors in recurrent stone formers can help identify metabolic stone diseases in this hypothetical case study of an adult patient.8
Biochemical Testing in Recurrent Stone Formers
Learn how utilizing 24-hour urine tests may help diagnose a metabolic stone disease in this hypothetical case study of a pediatric patient.6
Consulting Additional Specialties
See how a urologist consults with a nephrologist when a metabolic stone disease is suspected in this hypothetical case study of an adult patient.
ADVOCACY AND PROFESSIONAL ORGANIZATIONS
Oxalosis & Hyperoxaluria Foundation (OHF)
OHF supports clinicians and patients in the hyperoxaluria community through education, advocacy, and grants and funding for research.
American Kidney Fund
AKF fights kidney disease on all fronts with programs of prevention, screening and early detection, financial support, disease management, clinical research, innovation and advocacy.
European Hyperoxaluria Consortium OxalEurope
OxalEurope serves as a hyperoxaluria-centered consortium providing clinical guidelines for screening, guidance, diagnosis, and treatment for PH1.
National Kidney Foundation
National Kidney Foundation is a lifeline for all people affected by kidney disease. As pioneers of scientific research and innovation, NKF focuses on the whole patient through the lens of kidney health.
Rare Kidney Stone Consortium (RKSC)
RKSC serves as a resource and information clearinghouse for investigators, clinicians, and patients.
American Urological Association (AUA)
AUA promotes high standards of urological care with their clinical guidelines around the management of kidney stones and their associated conditions.
The R.O.C.K. Society
The R.O.C.K. Society is a special interest group dedicated to investigating and understanding the basic mechanisms of stone formation.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIDDK conducts and supports research into kidney conditions.
Global Genes
Global Genes provides education and advocacy for rare disease communities.
National Organization for Rare Disorders (NORD)
NORD provides resources about rare diseases for clinicians and researchers.