Scientists at the University's research center Applied Medicine (CIMA) have shown that progression of renal failure causes worse prognosis in patients with acute intermittent porphyria . The results of the work, carried out at partnership with experts from the Hospital 12 de Octubre in Madrid, the University Hospital of the Canary Islands and high school Karolinska in Sweden, have been published in the scientific journal Plos One.

The porphyrias are a group of metabolic diseases characterized by a dysfunction in the synthesis of heme, a molecule that is involved in vital processes such as cellular respiration and detoxification of substances. Acute intermittent porphyria affects approximately 5 out of every 100,000 inhabitants, and manifests as acute crises, with abdominal pain, nausea, vomiting, constipation, tachycardia and, in some cases, neurological complications.

The group of CIMA has demonstrated in an animal model that alterations in kidney function affect the heme synthesis pathway in the liver and constitute a triggering factor for acute porphyria attacks. "Until now, the most widespread hypothesis was that the transit of certain molecules (porphyrins and porphyrin precursors) progressively impaired kidney function. The data obtained suggest that they have little impact on kidney function. However, progression of renal failure can exacerbate porphyria and increase the severity of symptoms in patients who were previously asymptomatic carriers. In some particularly severe and poorly progressive cases, the deterioration of porphyria status may accelerate the decision to perform a double liver-kidney transplant," explain Antonio Fontanellas and Carmen Unzu, authors of work.

The results underscore the importance of monitoring the progression of renal failure in patients with acute porphyria in order to formulate targeted therapies before irreversible deterioration of neurological complications occurs. "Our study is going to continue to analyze the interaction between the kidney and liver in acute porphyria. The goal is to detect early markers that will help identify the most appropriate time to implement therapies to delay the progression of the disease."