Porphyria Cutanea Tarda in a Hemodialysis Patient Following Kidney Transplant Rejection A Rare Case Report

Introduction

Porphyria Cutanea Tarda (PCT) is a rare metabolic disorder of heme biosynthesis characterized by skin fragility, blisters, and hyperpigmentation. While PCT is uncommon in dialysis patients, it can occur due to iron overload, chronic kidney disease, and environmental triggers like alcohol and smoking. This case report presents a 40-year-old man with PCT following kidney transplant rejection and long-term hemodialysis treatment.

Clinical Case Summary

• Patient Profile: 40-year-old male, history of chronic glomerulonephritis, kidney transplant rejection, and ongoing hemodialysis.
• Symptoms: Recurrent skin blisters, hyperpigmentation, and vesicles appearing after sun exposure.
• Risk Factors: Smoking, alcohol consumption, high ferritin levels, and mildly elevated liver markers.
• Diagnosis: Whole genome sequencing confirmed a UROD gene mutation, consistent with PCT.
• Treatment: Discontinuation of iron infusions, sun protection (SPF 50+), topical Fusidic acid and Betamethasone, and ongoing erythropoietin therapy.
• Outcome: Significant symptom improvement with reduced ferritin levels after six months.

Understanding PCT in Dialysis Patients

PCT occurs due to a deficiency in uroporphyrinogen decarboxylase (UROD), exacerbated by iron overload and oxidative stress. Dialysis patients are at higher risk due to uremic toxins and impaired iron metabolism. Unlike other porphyrias, PCT has effective treatment options, including phlebotomy, iron chelation, and erythropoietin therapy.

Key Takeaways for Clinicians

Consider PCT in hemodialysis patients presenting with unexplained skin lesions.
Check for iron overload, alcohol use, and liver function abnormalities to support diagnosis.
Treatment strategies should focus on sun protection, iron reduction, and erythropoietin therapy in ESRD patients.

Further Reading & References

Full Case Report
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