AIP Patient With Kidney Disease Improves After Transplant, Case Report Shows

A combined liver and kidney transplant can be an effective treatment for acute intermittent porphyria (AIP) patients with kidney disease, a case report shows.

The report, “Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report,” was published in the American Journal of Case Reports.

AIP is characterized by defects in the biological pathway to produce heme — a molecule needed for the transport of oxygen in the blood. These defects lead to the buildup of metabolites involved in heme production, which can be toxic to various bodily tissues, including the kidneys. Damage to the kidneys, in turn, can lead to kidney disease.

Within the body, most heme is produced in the liver and bone marrow. Because of this, liver transplants can be an effective treatment for AIP. Similarly, kidney transplants have also led to positive outcomes in people with AIP who have kidney disease.

The combination of a liver and kidney transplant has been reported before, in two patients in Sweden with chronic kidney failure secondary to AIP, with good outcomes.

In the current study, researchers in Brazil described the case of a male who started experiencing acute episodes of abdominal pain, accompanied by nausea and vomiting at age 15. The episodes occurred about every three to six months, lasting from 12 hours to two days at a time. These episodes had sent the patient to the emergency room on several occasions; he was discharged after experiencing clinical improvements with medications.

He had no family history of kidney or liver disease. Two years after the first onset of symptoms, the patient experienced an episode of abdominal pain, fever, difficulty swallowing, and dark-colored urine, which is suggestive of AIP. Because laboratory tests were indicative of kidney failure, the patient was started on regular hemodialysis — a procedure that “filters” the blood, effectively performing the function usually done by the kidneys.

Due to treatment-related anxiety, the patient was given diazepam, a type of benzodiazepine. Subsequently, he developed progressive muscle weakness, requiring mechanical ventilation and tube-feeding to keep him breathing and fed.

This led to a suspicion of AIP, since benzodiazepines such as diazepam can induce porphyria attacks. Laboratory and genetic tests confirmed this suspicion, and all medications that could possibly act as AIP triggers were halted.

After stopping these medications, the patient’s condition slowly improved; he regained the ability to breathe, eat, and walk independently. The patient was hospitalized for a total of 183 days, 110 of which were spent in intensive care.

Despite these improvements, his kidney function showed no sign of improvement a year after leaving the hospital, needing continual hemodialysis.

Ultimately, the patient sought a liver and kidney transplant specialist. At the time, he had been on hemodialysis for 18 months, and it had been three years since the onset of AIP symptoms.

After six months on a waitlist, the patient received a combined liver and kidney transplant at the age of 19. No complications related to the surgery were reported. He was then started on a treatment regimen to suppress the immune system — a common practice for organ transplants, as it lowers the chance of the body rejecting the transplanted organ.

Following the procedure, his kidney function markedly improved, and he was able to stop getting hemodialysis.

At 42 months after the procedure, the transplanted liver and kidneys continue to function well, with no evidence of organ rejection and no evidence of further AIP attacks. The patient continues to be on an immunosuppressing regimen. He also attends a rehabilitation program and has shown marked improvement in muscle functioning: he can write, walk normally, and speak more intelligibly.

“Combined liver and kidney transplant is a safe and effective treatment for patients with chronic kidney failure secondary to AIP. It should be considered as an alternative when there is no satisfactory response to first-line treatments,” the researchers wrote. Also, “it can prevent further episodes of porphyria attacks, restore kidney function, and allow progressive recovery from previous neurological damage.”