The Primary Hyperoxaluria Registry will help physicians, patients and their families better understand primary hyperoxaluria patients. The Registry is a web-based, confidential database. The information about your health will be maintained in the registry only by your assigned number and not by your name. The information will be maintained confidential in accordance with the local privacy regulations related to medical information. The information about your health will be maintained in the registry only by your assigned number and not by your name.
Because this disease is rare, most physicians typically have limited experience with primary hyperoxaluria patients. Therefore, the best ways to treat primary hyperoxaluria have not been well studied. Patients with primary hyperoxaluria have been diagnosed all over the world, however only a few patients are known in any individual country.
For these reasons, we are trying to combine all international research efforts and pool all information. A PRIMARY HYPEROXALURIA REGISTRY has been established by the Rare Kidney Stone Consortium and recently funded by the National Institutes of Health. Information collected in this registry will increase clinical and research-based understanding of the disease in a manner that no single center could do alone. By making this information available to the physicians and researchers who study primary hyperoxaluria, new ideas can be tested and research progress can be made faster. We are hoping that this may lead to earlier diagnosis and better treatments for you, your family members and other people living with primary hyperoxaluria.
Everyone who has PH (Type I, Type II or Type III) can take part in the Registry. Primary hyperoxaluria is a rare genetic disorder that is present at birth. In a person with PH Type I the liver creates too little of an enzyme called alanine: glyoxylate aminotransferase, or AGT. In PH Type II, the liver is missing a different enzyme, called glyoxylate reductase (GR) or hydroxypyruvate reductase. Patients with HOGA1 gene changes have PH Type III. In all 3 types of PH very large amounts of oxalate end up in the urine and the kidneys can be damaged to the point that they quit working (renal failure).
People who have Primary Hyperoxaluria can develop:
- Kidney stones - Urinary tract infections (UTI) - Calcium oxalate deposits in tissues throughout the body (Oxalosis) - Kidney failure resulting in the need for dialysis - Calcification of the kidneys (nephrocalcinosis) - Blood in the urine (hematuria) - Abdominal flank or groin pain
To participate in the Primary Hyperoxaluria Registry you will need to give permission for your medical records to be sent to the PH Registry staff and they will assist you and your physician.
Primary hyperoxaluria patients willing to participate will sign a consent form and a Medical Release form. Patients will have their medical records sent from their health provider to the Mayo Clinic Primary Hyperoxaluria Study Coordinator. The primary hyperoxaluria Study Coordinators will assist in getting the needed records for Registry data entry. Medical information will be updated annually on patients if possible.
The Primary Hyperoxaluria Registry is completely voluntary and you may decline or withdraw at any time.
The Primary Hyperoxaluria Registry will collect medical information on primary hyperoxaluria patients over the course of their lifetime.
Last updated: 01/09/2013