Intern Med. 2026 May 16. doi: 10.2169/internalmedicine.7131-26. Online ahead of print.
ABSTRACT
Acute intermittent porphyria (AIP) is a condition characterized by the neurotoxic accumulation of δ-aminolevulinic acid and porphobilinogen. However, chronic kidney disease is an under-recognized complication. A 50-year-old woman experienced recurrent abdominal pain with repeated acute kidney injury and hyponatremia, resulting in a rapid decline in renal function. Marked elevations of both metabolites, as well as her genetic mutation, confirmed AIP. The administration of hemin markedly decreased the frequency of porphyria attacks and significantly attenuated the annual estimated glomerular filtration rate decline. Although the patient eventually developed end-stage kidney disease, hemin treatment slowed the progression of renal failure.
PMID:42144323 | DOI:10.2169/internalmedicine.7131-26