Primary Hyperoxaluria Disease - Mayo Clinic
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Primary Hyperoxaluria (PH) is a condition where too much of a substance called oxalate is present in the urine. Hyperoxaluria can cause cause kidney stones.
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Primary Hyperoxaluria (PH) is a condition where too much of a substance called oxalate is present in the urine. Increased oxalate in the urine can come from eating too much oxalate in foods, or from over-absorption of oxalate by the intestines due to certain diseases (called enteric hyperoxaluria). In some persons the cause of the disease is not known, but may result from changes in the way kidneys handle normal amounts of body oxalate. PH can be initially detected at all ages, from infants to people in their 70s. Type I, Type II and Type III PH are rare genetic (inherited) disorders that are 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. In September 2010, collaboration among Mayo Hyperoxaluria Center and international PH researchers studying patients with marked hyperoxaluria of uncertain cause led to the discovery that it was caused by changes in a gene called DHDPSL (now named HOGA1). 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). Hyperoxaluria can cause cause kidney stones. Oxalosis happens after the kidneys fail and the excess oxalate builds up in the blood, and then spreads to the eyes, bones, muscles, blood vessels, heart and other major organs. Untreated, kidney failure and oxalosis can lead to serious illness and even death. Patients most often develop the first symptoms, typically kidney stones, anywhere from birth to the mid-20s. But hyperoxaluria may go unrecognized until age 30 to 40. In some patients the first symptom is kidney failure. People who have PH 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 PRIMARY HYPEROXALURIA REGISTRY Because this disease is rare, many physicians have limited experience with PH patients. Therefore, the best ways to treat PH have not been well studied. For these reasons we are trying to combine all international research efforts and pool all information. As part of this effort, 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 PH, 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 PH. Who can participate in the PH Registry? Everyone who has PH (Type I, Type II or Type III) can take part in the Registry. It is completely voluntary and you may decline or withdraw at any time. To participate in this Registry you will need to give permission for your medical records to be sent to the Primary Hyperoxaluria staff and they will assist you and your physician. Privacy of information 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. What does participation in the PH Registry mean to you? Participation in the registry will not change your current relationship with your doctor. The medical information your doctor collects will be submitted to the Primary Hyperoxaluria Registry only in a de-identified form. Sharing information on Primary Hyperoxaluria will help you, your family and your doctor to get access to resources and expert care and also help medical community to understand and take better care of patients with Primary Hyperoxaluria in the future. Please contact us by phone (800-270-4637) or e-mail (hyperoxaluriacenter@mayo.edu) for more information. Dawn S. Milliner, MD Mayo Clinic, Rochester John C Lieske, MD Mayo Clinic, Rochester
