[Acute intermittent porphyria coexisting with chronic postinfectious renal failure]

Area of Science:

• Nephrology
• Genetics
• Dermatology

Background:

• Acute intermittent porphyria (AIP) is a rare genetic disorder affecting the heme biosynthesis pathway.
• Complications of AIP can include neurological and renal dysfunction.
• Autonomic neuropathy is a recognized, though less common, complication of AIP.

Observation:

• A 46-year-old woman with a history of AIP presented with progressive chronic renal failure.
• Her renal failure was attributed to hypertension, recurrent urinary tract infections, and a neurogenic bladder secondary to autonomic neuropathy.
• The patient's condition deteriorated, leading to death despite undergoing hemodialysis.

Findings:

• The development of chronic renal failure in this AIP patient highlights the potential for severe systemic complications.
• The appearance of skin lesions in the terminal stage raised a hypothesis regarding a possible conversion of AIP to variegate porphyria (VP).
• This conversion hypothesis remains speculative due to the absence of definitive enzymatic laboratory tests.

Implications:

• This case underscores the importance of vigilant monitoring for systemic complications in AIP patients, including renal and neurological issues.
• The potential for AIP to evolve into VP, suggested by skin manifestations, warrants further investigation and the development of diagnostic tools.
• Understanding such rare disease progressions is crucial for refining patient management strategies and improving outcomes in porphyria disorders.