A new joint clinicial investigation has come out with a reminder to patients with primary hyperoxaluria type 2 (PH2) to adherr to the requirements regarding careful follow up proceedings. This is due to new reports that have found worse renal outcomes than previously found. They discovered a lack of follow up care causes a significant risk for morbidity.
Primary Hyperoxaluria type 2 or PH2 is a rare genetic condition in which the body overproduces oxalate, causing the kidneys to form stones. PH2 is a subtype of the disease, thought to be less severe than type 1. The excess of calcium in the kidneys (nephrocalcinosis) and high levels of oxalate in the urine (hyperoxaluria) causes the formation of kidney stones (nephrolithasis). This is sometimes is the only symptom for type 2, but can also include frequent urinary tract infections and later kidney failure as it progresses. The symptoms tend to begin at age 3, but the median age of diagnosis was at age 9. Conservative treatment includes a high intake of fluids and calcium oxalate crystallization inhibitors. However, to be cured, one must have a liver transplant, though this alone is not enough to cure the disease.
The New Study
The experiments tried to find the course of the PH2 disease in their study and to identify what factors affect the patients outcome. In their study of 101 patients with PH2, they found the main symptoms to be urolithiasis (82.8%), nephrocalcinosis (35.1%) and recurrent urinary-tract infections (32.1%). They found 42 of the patients that had stones attended 144 urological procedures in the following 12.8 years. They had ten patients in the study reached stage 5 (CKD5) before ever receiving a diagnosis. Only 22 patients reached stage 5 at a median age of 40.4 years, another quarter had deficient renal functioning. Once reaching stage 5, ten patients had to receive kidney transplants due to renal failure. All of the patients received the conversation treatment.
The doctors stress the need for accurate diagnosis and mention the less obvious differentiation between stage 1 and 2 patients, with the same clinical characteristics. Because of this, PH2 is often overlooked and lacks solid data and research. They hope that later in addition to liver transplants, there will be drugs that will target the relevant gene that may over novel improvements for the longterm outcomes.
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