0
The report from the LeoDias portal told the story of , a carrier of the disease called Primary Hyperoxaluria Type 1 (HP1), which affects the kidneys. This health problem is considered hereditary and ultra-rare, and the vehicle details more about the condition, according to the National Commission for the Incorporation of Technologies in the Unified Health System (CONITEC).
Primary Hyperoxaluria Type 1 (PH1) is caused by genetic mutations that cause a deficiency in the activity of the liver enzyme called alanine-glycoxylate aminotransferase, resulting in excessive production of calcium oxalate in the liver — a substance formed by the combination of calcium and oxalate. This overproduction negatively impacts the concentration of calcium in urine and its elimination through the kidneys.
See the photos
Read Also
The most common manifestations of the disease are the formation of stones and the accumulation of calcium in the kidneys, chronic kidney disease and kidney failure, which may involve the presence of blood in the urine, burning during urination, pain, urinary tract infection or the passage of stones.
These symptoms may be accompanied by systemic oxalosis, which is the accumulation of calcium oxalate in different organs, such as eyes, bones, heart and soft tissues. In this way, nerve impairment, hypothyroidism, lesions on the skin and other parts of the body caused by vasculitis can occur, as well as changes in heartbeat and inflammation of the heart muscle if there is an accumulation of crystals in this organ.
It is estimated that there are 1 to 3 cases of the disease per 1 million people in Europe and North America. In Brazil, there are records of 21 patients, 71% of whom have stage 5 kidney disease, characterized by kidney failure and the need for hemodialysis or kidney transplantation.
Diagnosis:
Treatment:
It is recommended that patients adopt a restrictive diet in foods with a high oxalate content, increase fluid intake and take oral potassium citrate. If the disease is progressing, therapies to support kidney function are recommended, such as dialysis and isolated kidney transplantation or combined kidney and liver transplantation.
Currently, in the Unified Health System (SUS), there are no specific medications available for the treatment of HP1, nor a Clinical Protocol and Therapeutic Guidelines (PCDT) that define lines of care for these patients. However, the drug Oxlumo, from Alnylam Pharmaceuticals, is a therapy validated by the National Health Surveillance Agency (Anvisa).
