
Age 06 years, Congenital Erythropoietic Porphyria (CEP)
Sadaqat Ali Shah
Contributed By: Dr. Tariq Ghafoor
Sadaqat, born to non-consanguineous parents started passing reddish urine at 01 month of age. There is history of brownish discoloration of teeth and skin blistering and scarring on exposure to sunlight. He received his 1st RCC at 01 year of age and has received 7 x RCC so far. His elder brother is a diagnosed case of Congenital Erythropoietic Porphyria (CEP) with similar clinical features. He had scarring lesions over his face both hands and feet, hirsutism and reddish-brown discoloration of teeth. His liver was palpable 3 cm below right costal margin while spleen was not palpable. Sadaqat was diagnosed to have CEP 08/4/24 due to presence of porphobilinogen in urine.
He was planned for HSCT with his fully HLA-matched elder brother with no ABO Mismatch. He was transplanted on 9/5/2024 with Bu16mg/kg ATG10 Cy160mg/kg used as conditioning protocol.
Post-transplant period was unremarkable. Neutrophil engraftment was achieved on Day+11 while platelet engraftment was achieved on Day+12. The patient was discharged after her neutrophil recovery and was advised weekly follow up in OPD.