hereditary porphyria
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Patients who satisfy all the following criteria are targeted. 1) Clinically suspected of porphyria 2) Persons who have already been confirmed for genetic porphyria already by gene / HPLC etc.
Exclusion criteria
Exclusion criteria: Patients who conflict with one of the following will not be included in this clinical study. 1) Patients with lead poisoning, liver diseases such as liver cirrhosis / liver cancer, blood diseases such as iron deficiency anemia and sideroblastic anemia, hypermetabolism, endocrine diseases 2) Patients suspected of elemental poisoning such as arsenic and mercury. 3) Patients suspected of intoxication of polyaromatic halide compounds such as dioxin and PCB. 4) Patients taking phenobarbital, cedlumide, griseofulvin, carbamazepine 5) Others who the research researcher deems inappropriate as a patient.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The differential diagnosis of hereditary porphyria (especially, VP, HCP, EPP) by detecting the intrinsic fluorescence spectra of porphyrin intermediate metabolites (Uro III, Copro - III, Pp - IX) in urin/stool samples using LCTF | — |
Secondary
| Measure | Time frame |
|---|---|
| 1)Correlation between intrinsic fluorescence spectrum of porphyrin intermediate metabolite and results of HPLC analysis, genetic test(previously obtained). 2)Discrimination of difference in detectability by various clinical samples (urine/stool) 3)Correlation between intrinsic fluorescence spectrum of porphyrin intermediate metabolite and clinical data (gender, age, blood biochemistry data) | — |
Countries
Japan
Contacts
Tottori University Faculty of Medicine Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, School