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11 Cards in this Set
- Front
- Back
Clinical Hereditary Coproporphyria
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Inheritance
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Autosomal dominant; coproporphyrinogen (COPROGEN) oxidase gene on 3q12
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Prenatal
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DNA analysis
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Incidence
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Rare estimated 2 per million in Denmark; M=F; symptomatic M:F=1:2.5
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Age at Presentation
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Third to fourth decade of life
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Pathogenesis
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COPROGEN oxidase gene mutation causes the phenotype
Acute attacks precipitated by same factors as AIP and VP Increased ALA synthetase with attacks |
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Clinical
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Skin (approximately 30% of symptomatic patients)
Delayed photosensitivity changes similar to PCT and VP (see pp. 216, 218) Acute Attacks Central Nervous System Similar to AIP and VP Gastrointestinal Similar to AIP and VP |
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DDx
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AIP
VP PCT |
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Lab
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Plasma porphyrin level and fluorescence spectrum
Increased coproporphyrin levels in stool and urine Increased ALA and PBG in urine during attacks only |
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Management
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See AIP and VP
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Prognosis
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Acute attacks may be life threatening; many gene carriers are asymptornatic throughout life
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