EMANT Society Introduces Innovative Treatment for Primary Hyperoxaluria Type 1 at Dubai Conference

The Emirates Medical Association for Nephrology and Transplant (EMANT) Society has recently unveiled a groundbreaking medication designed to treat primary hyperoxaluria type 1 (PH1), a rare genetic condition, at a conference held at the Conrad hotel in Dubai.

Organized by NewBridge Pharmaceuticals, this event brought together leading healthcare experts to discuss advancements in treating this challenging disorder.

Highlighting the gravity of PH1, Dr. Mona Al-Rukhaimi, Professor of Medicine and President of EMANT, emphasized the disease's complexity and the critical nature of the new treatment.

PH1 leads to an excessive production of oxalate by the liver, a substance usually present in minimal amounts and eliminated by the kidneys. In individuals with PH1, the kidneys struggle to expel the surplus oxalate, causing potential damage.

Dr. Mona Al-Rukhaimi explained, "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."

This condition underscores the importance of the newly introduced medicine in providing hope for those affected.

PH1, as the speakers at the event pointed out, is the most common and severe form of primary hyperoxaluria, accounting for 70-80% of all cases.

It affects roughly 1 to 3 people per million in Europe and North America but is significantly more prevalent in the Middle East and North Africa. Alarmingly, about half of all PH1 patients may go undiagnosed, highlighting the urgency for greater awareness and early detection efforts.

The ramifications of PH1 on kidney health are severe. Oxalate, when combined with calcium in the urine, forms crystals that can accumulate in the kidneys over time, leading to chronic kidney disease (CKD) or kidney failure, also known as end-stage renal disease (ESRD).

In ESRD, the kidneys lose their ability to eliminate oxalate effectively, causing it to form crystals in various body organs, including the bones, eyes, skin, and heart, in a condition known as systemic oxalosis. This widespread deposition of crystals causes significant damage, emphasizing the critical need for effective management and treatment strategies.

PH1 can manifest in numerous ways, such as the development of kidney stones in childhood, repeated instances of kidney stones, the discovery of crystals in kidney tissue, kidney failure, or inadequate growth in infants.

Symptoms associated with kidney stones, including side body pain, painful or bloody urination, urinary tract infections, and the passing of stones, further complicate the condition.

Despite PH1 accounting for only 0.5% of pediatric end-stage kidney disease cases in Europe, the USA, and Japan, its prevalence is markedly higher in certain regions, such as Kuwait and Tunisia, where it represents up to ~10% and ~13% of cases, respectively.

This higher incidence rate is thought to be linked to the greater prevalence of consanguineous marriages within Arab communities.

Given its inherited nature, it's crucial for family members, especially siblings, of individuals diagnosed with PH1 to undergo genetic testing for the disease.

The condition's symptoms may not always be apparent and can be easily mistaken for other disorders. As such, adults with PH1 often experience significant delays in receiving a diagnosis, underscoring the importance of early detection and management.

Prompt testing through urine and genetic analyses may greatly reduce the time to diagnosis, enabling more effective treatment strategies.

Managing PH1 requires a lifelong, personalized approach, given its varying impact on individuals. Healthcare professionals play a pivotal role in devising tailored management plans, addressing the unique challenges each patient faces.

The introduction of new medication for PH1 by the EMANT Society marks a significant advancement in the management of this rare and complex condition. With better awareness, early diagnosis, and personalized care, there is renewed hope for those affected by PH1, providing them with the means to lead healthier lives.