Primary Hyperoxaluria

Disease Information

Registry

The purpose of this registry is to identify as many affected individuals as possible worldwide, and to collect as much clinical information about these patients as is possible. The resulting collection of data will be much larger than any individual center could hope to accumulate, and will be available to all interested physicians and researchers internationally.

Goals of the registry are:

To increase understanding about Primary Hyperoxaluria
To provide evidence that can be used to establish patient care guidelines
To provide the basis for future clinical trials

Registry participation is voluntary and at the discretion of patients and their care providers. All information regarding individuals will be carefully protected in an anonymous, confidential fashion in accordance with Mayo Clinic, United States, and international guidelines.

This Registry’s purpose is to identify as many individuals as possible around the world that are affected with PH, in order to determine how the disease behaves during the course of patients’ lifetimes. It will be a great advantage for physicians and researchers to be able to study and compare the medical information on hundreds of PH patients instead of just a small number of patients.

Because every few patients have PH, even nephrologists and urologists who specialize in kidney diseases are likely to see only 1 or 2 primary hyperoxaluria patients over the course of their entire career. It is very difficult to learn about how oxalate affects patient’s kidneys and other body systems, and difficult to determine what treatments are effective. By doctors and patients sharing their experiences with PH and combining it with information from around the world, everyone will be able to learn more about the disease.

The Registry is a computer database where such information is brought together, analyzed, used to advance understanding of the disease (in this case primary hyperoxaluria), and then results are shared with all physicians and scientists through publications and presentations.

The Registry has the ability to track a patient's health over a period of years and decades, the Registry's information will be valuable as physicians and researchers look for new methods to improve kidney function. The Registry will be useful in finding out which medications or treatments improve the health of PH patients.

RKSC Registry as of January 2013

PH Type

There are at least 3 forms of primary hyperoxaluria.

Type I is caused by mutations of the AGXT gene. These mutations result in a deficiency of the enzyme alanine glyoxylate transferase (AGT) which is found only in the liver.
Type II is caused by mutations of the GRHPR gene. These mutations result in a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) found in the liver and other tissues.
Type III is caused by mutations of the HOGA1 gene (formerly DHDPSL) found in the liver.

Of the 361 patients in the registry as of January 2013:

265 patients (73%) have Primary Hyperoxaluria Type I
35 patients (10%) have Primary Hyperoxaluria Type II
31 patients (9%) have Primary Hyperoxaluria Type III
24 patients (7%) do not have known mutations for Primary Hyperoxaluria I, II or III

10 patients (3%) were diagnosed in the 1960's
19 patients (5%) were diagnosed in the 1970's
26 patients (7%) were diagnosed in the 1980's
53 patients (15%) were diagnosed in the 1990's
155 patients (43%) have been diagnosed since the year 2000
98 patients (27%) have been diagnosed since the year 2010

8% of the patients had failure to thrive (low height and weight) at diagnosis
38% of the patients had a history of nephrocalcinosis (when the kidneys are extensively filled with calcium oxalate crystals that can often cause loss of the kidneys.)
76% of the patients had a history of urolithiasis (kidney stones)
44% of the patients had a history of hematuria (blood in the urine)
58% of the patients had a history of abdominal pain
11% of the patients were asymptomatic (had no symptoms at all) at diagnosis

Approximately 150 patients had their first symptom between the ages of 0-4
Approximately 50 patients had their first symptom between the ages of 5-9
Approximately 60 patients had their first symptom between the ages of 10-19
Most patients have symptoms before the age of 25

95 patients were diagnosed between the ages of 0-4
65 patients were diagnosed between the ages of 5-9
The chart shows that a large percentage of diagnoses are made before a patient's 25th birthday
Many patients are diagnosed before age 10

The majority of patients have functioning kidneys at the time of diagnosis