Acute porphyria and kidney health

What's UP Doc?
Written By Dr. Herbert Bonkovsky

What's UP Doc? Is a regular column where we feature a patient question along with a response from a member of the UPA Scientific Advisory Board.

I heard a doctor in a presentation say that people with porphyria should “look after their kidneys.” How do you do that?

This week our response was provided by Dr. Herbert Bonkovsky.

Persons with acute hepatic porphyrias are at increased risk to develop chronic kidney disease. One likely cause of this is increased levels of ALA, which occur in some patients with AHPs.

Among other factors that can lead to chronic kidney damage are systemic arterial hypertension [high blood pressure], which should be looked for at least twice per year, such as during periodic visits with primary care providers. Many persons now have devices for monitoring BP. The idea is not more than 130/80 mmHg. Diabetes mellitus is another and major risk factor for development of chronic kidney disease, so avoiding obesity and avoiding foods with high glycemic indices are best. Avoidance of or prompt treatment of urinary tract infections is also important. Some medications can damage the kidneys and are better avoided if possible. For example amino glycoside antibiotics, chronic use of NSAIDs, chronic use of high doses of acetaminophen, which some patients take for chronic pain syndromes. Givosiran is known to lead to some adverse renal effects, so any patients chronically receiving givosiran should have urinalysis, urine protein and creatinine, and CMP with estimation of GFR performed at least every 6 months. If evidence of progressive increase in serum creatinine or urinary protein occurs, or decrease in eGFR, greater than 10% below baseline, additional evaluation should be undertaken by a medical kidney specialist [nephrologist].

Thank you to Dr. Bonkovsky for this What's UP Doc? answer! Do you have a question for a porphyria expert? Send it to info@porphyria.org.

 

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Dr. Herbert Bonkovsky

Dr. Bonkovsky’s interest in the porphyrias began in medical school and was strengthened during his time studying under porphyria researcher D.P. Tschudy at the National Institutes of Health. Dr. Bonkovsky was among the first to show that hepatic porphyrin and heme synthesis is under the negative feedback regulatory control of heme itself, acting chiefly to down-regulate delta-aminolevulinic acid (ALA) synthase-1, the rate controlling enzyme for heme synthesis. This discovery was the basis for developing heme therapy for acute porphyria attacks, which is still today the treatment of choice for these life-threatening attacks. Dr. Bonkovsky was the first physician-investigator to purify heme and to administer it to a patient with severe acute intermittent porphyria.

Since that time, Dr. Bonkovsky has continued the search for new treatments for the porphyrias, administering clinical trials for potential new therapies at hospitals and medical centers in Massachusetts, Connecticut, and now at the Atrium Health--Wake Forest Baptist Medical Center in Winston-Salem, North Carolina. He is principal investigator of the Porphyria Center of Excellence at Wake Forest/NC Baptist Medical Center, which is a part of the Porphyrias Consortium of the USA, sponsored by the National Institute of Diabetes, digestive and Kidney Diseases and the National Center of Rare Diseases Research.

Dr. Bonkovsky also identified deficiency of ferrochelatase, the final enzyme in the heme synthetic pathway as the fundamental metabolic defect in EPP. Studies on the regulation of hepatic heme metabolism, especially the mechanisms and factors that regulate ALA synthase and heme oxygenase, have been the subject of a large number of studies, both in the basic research laboratory and the clinical research center during the past 50 years.

Dr. Bonkovsky has trained many medical students, residents, and sub-specialty fellows, especially in the fields of internal medicine, gastroenterology, and hepatology, as well as graduate students and junior faculty working on laboratory research.

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