Hereditary Coproporphyria Presenting with Weakness and Photosensitive Rash: A case Report and Literature Review
| Autor: | Li Xinyuan, Hongliang Zhang, Jing Liu, Shaokuan Fang, Chenglin Wang, Heqian Du, Li Cui, Lijun Zhu |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Abdominal pain
medicine.medical_specialty business.industry Cognitive Neuroscience medicine.disease Rash Gastroenterology Atomic and Molecular Physics and Optics chemistry.chemical_compound Coproporphyrinogen Oxidase Porphyria Hereditary coproporphyria Developmental Neuroscience chemistry Uroporphyrinogen Internal medicine medicine medicine.symptom business Heme Pathological |
| Zdroj: | NeuroQuantology. 16 |
| ISSN: | 1303-5150 |
| DOI: | 10.14704/nq.2018.16.6.1773 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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