Research Information System
8th INTERNATIONAL CONGRESS OF MEDICAL GENETICS, Antalya, Turkey, 21 - 23 September 2023, vol.1, no.8, pp.69-83, (Summary Text)
Abstract Introduction: Hereditary coproporphyria (HCP) is a metabolic rare disease caused by heterozygous variants in the CPOX gene, with a prevalence of 1-9/1,000,000. A 54-year-old male patient was referred to our clinic due to dermatological, gastrointestinal, and cardiovascular symptoms triggered by certain medications and foods. The patient reported experiencing dermatological symptoms after using lansoprazole and rabeprazole, diarrhea following the consumption of acetylsalicylic acid, piracetam, and ginkgo biloba, and tachycardia after using pancreatic enzymes (pancreatin), N-acetylcysteine, and ursodeoxycholic acid. Additionally, he exhibited dermatological symptoms after consuming mushrooms, pepper, and peanuts. The patient’s medical history includes hypothyroidism, vertigo, and a history of non-invasive papillary urothelial bladder tumor. In this study, we aim to present a patient with a detected pathogenic variant in the CPOX gene. Methods: Clinical exome sequencing was performed performed from blood sample, and a heterozygous missense variant, c.1339C>T;p.R447C (NM_000097.7), was identified in the CPOX gene. Discussion: HCP is a metabolic disorder characterized by gastrointestinal, cardiovascular, and neurological symptoms triggered by specific medications and foods. The patient’s gastrointestinal, cardiovascular, and dermatological symptoms consistent with coproporphyria, as well as autoimmune and neurological manifestations like hypothyroidism and vertigo, may be associated with this genetic variant. However, it is possible that other genetic and environmental factors may contribute to these findings. This case emphasizes the significance of genetic testing in diagnosing rare and complex clinical manifestations.