DOI: 10.14704/nq.2018.16.6.1773

Hereditary Coproporphyria Presenting with Weakness and Photosensitive Rash: A case Report and Literature Review

Li Xinyuan, Hongliang Zhang, Li Cui, Lijun Zhu, Jing Liu, Heqian Du, Chenglin Wang, Shaokuan Fang

Abstract


Hereditary coproporphyria (HCP) is a form of porphyria arising from a deficiency of the enzyme, coproporphyrinogen oxidase, which results in the accumulation of coproporphyrin in the heme biosynthetic pathway. In the current study, we report a case of a 22-year-old male with a history of six recurrent intestinal obstructions, mainly presenting with reduced upper limb strength, photosensitive rash, and abdominal pain this admission. The laboratory tests revealed increased levels of coproporphyrin, uroporphyrinogen and porphyrin in stool sample and porphobilinogen deaminase activity was within the normal range. All these led to the diagnosis for HCP. Single intravenous glucose therapy improved the patient’s condition and no relapse was observed during the 3-month follow-up period. Since then, no other pathological or genomic manifestations were observed.

Keywords


Hereditary Coproporphyria, Porphyria, Coproporphyrinogen Oxidase, Coproporphyrin, Treatment

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Supporting Agencies

We sincerely thank the patient’s family for co-operation.



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