Severe cisplatin-induced renal toxicity in a patient with xeroderma pigmentosum

Abstract

Introduction

Xeroderma pigmentosum is a rare genetic disorder of DNA repair, defined by extreme sensitivity to sunlight, leading to sunburn, skin pigmentation and increased incidence of skin cancers. Cisplatin acts by interfering with DNA repair mechanisms to cause DNA damage and apoptosis. It has indications in many malignancies including bladder, head and neck and lung cancers. Acute kidney injury is a well-known complication of cisplatin.

Case report

We report a 42-year-old male with a long history of Xeroderma pigmentosum treated with adjuvant cisplatin (40 mg/m²) in combination with radiotherapy for cutaneous squamous cell carcinoma of the neck. He presented to clinic prior to his second weekly dose of cisplatin with a severe acute kidney injury and a creatine level of 813 mmol/L and eGFR of 7 mL/min. No myelosuppression was present.

Management and outcome

Treatment consisted of aggressive electrolyte and fluid management. Creatinine levels slowly improved with conservative management without the need for dialysis. Radiation was completed without further cisplatin.

Discussion

Three cases of severe adverse effects from cisplatin administration in patients with Xeroderma pigmentosum have been reported, with all fatal. Xeroderma pigmentosum complementation group C plays an important role in the DNA repair process with the recognition and repair of damage to normal cells following cisplatin. Patients with Xeroderma pigmentosum can be carriers of defective Xeroderma pigmentosum complementation group C and if the degree of Xeroderma pigmentosum complementation group C inactivity is significant, fatalities could occur. Physicians should be aware of this rare but potentially lethal toxicity when considering systemic therapy for squamous cell carcinoma in patients diagnosed with Xeroderma pigmentosum.