Medical Association announces new treatment for ‘primary hyperoxaluria type 1’

The Emirates Medical Association for Nephrology and Transplant (EMANT) has announced a new medicine for treating primary hyperoxaluria type 1 (PH1), a rare inherited disease that causes the overproduction of Oxalate (a salt or ester of oxalic acid).

The announcement was made in Dubai during a gathering of top notch healthcare professionals and medical experts at Conrad hotel and it was organized by NewBridge Pharmaceuticals.

Dr. Mona Al-Rukhaimi, Professor of Medicine, President, Emirates Medical Association for Nephrology and Transplant (EMANT), said: “Primary hyperoxaluria type 1 (PH1) is a rare inherited disease that causes the overproduction of Oxalate which present only in small amounts in a healthy liver. As it is not used by the body, it is removed by the kidneys, however in PH1, the liver makes too much oxalate, and the kidneys can’t keep up with removing it.”

She further said “Oxalate overproduction can damage the kidneys and can affect our body’s ability to filter waste from the blood and to create urine. This damage is progressive, meaning it will get worse over time, and can be permanent. However, managing the condition can help to slow the damage to the kidneys.”

According to the speakers during the event, roughly 70-80% of all people with primary hyperoxaluria have PH1 the most common and severe type.

Approximately 1 to 3 in every million people in Europe and North America have PH1. In the Middle East and North Africa, cases of PH1 are more common & It’s estimated that about 50% of all people with PH1 may be undiagnosed.

Once oxalate is in the kidneys, oxalate combines with calcium in urine. When oxalate and calcium combine, crystals are formed. Over time, more and more crystals are made that get trapped in the kidneys. These crystals can damage the kidneys and affect their ability to filter waste from the body. The build-up of crystals in the kidneys can lead to chronic kidney disease (CKD) or even kidney failure, also known as end-stage renal disease (ESRD).

In ESRD, as kidneys are no longer able to get rid of oxalate properly, and it starts to spread and form crystals throughout the body in a process called systemic oxalosis. Crystals cause damage where they are deposited. This can happen in multiple organs in the body, including the bones, eyes, skin and heart.

PH1 may present in number of ways like having kidney stones, even only one as a child, repeated kidney stones, finding crystals in kidney tissue during a kidney test, kidney failure and not growing sufficiently as a baby.

The speakers in their presentations pointed that symptoms of kidney stones can include pain in the side of the body, painful or bloody urination, urinary tract infection and passing stones in the urine.

“Although, PH1 accounts for about 0.5% of pediatric end-stage kidney disease (ESKD) in registries from Europe, USA, and Japan it represents up to~10% in Kuwait and~13% in Tunisian ESKD children. This is presumably due to the higher rate of consanguineous marriages in the Arab communities,” one speaker said.

It is mentioned that PH1 is an inherited condition, meaning that it is passed down within families. It is important that family members, especially siblings, of a person with PH1 consider getting tested for the disease via a genetic test.

The signs of PH1 may not always be noticeable; they can go unrecognised or be confused with the signs of other disorders. Adults with PH1 can wait several years or longer after experiencing their first symptom before they receive a PH1 diagnosis. Because PH1 gets worse over time, it’s important that PH1 is diagnosed as early as possible, so that you can take proactive steps to manage your PH1.

Testing as early as possible with a urine and genetic test for PH1 may shorten the often long time it takes for people to get diagnosed.

PH1 requires lifelong management and monitoring. Since PH1 is a personal experience and affects everyone differently, your healthcare professional team will help you approach the different aspects that managing PH1 can involve, and work with you to create a personalized management plan.