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Porphyrias

October 29, 2011  by: Dr. Simran Kaur  Points: 5   Category: Health  Earning $0.20   Views: 409

Most of them are due to partial enzyme deficiencies with a dominant mode of inheritance. They are commonly categorized as either hepatic or erythropoietic.

         

The porphyrias are the rare disorders of the haem bio-synthetic pathway. Most of them are due to partial enzyme deficiencies with a dominant mode of inheritance and all have been associated with specific mutations. They are commonly categorized as either hepatic or erythropoietic.

Symptoms-

1. Photosensitive skin manifestations.

2. Pain.

3. Erythema.

4. Erosion.

5. Hirsutism.

6. Hyperpigmentation occurs predominately on area of skin exposed to sunlight.

7. Acute relapsing and remitting neurological syndrome.

8. Acute abdominal pain.

9. Tachycardia.

10. Hypertension.

11. Constipation.

12. Hyponatraemia.

13. Neuropsychiatric manifestations.


Management-

1. Avoidance of any agents that precipitate acute porphyria.

2. Treat photosensitive symptoms.

3. Avoid sun exposure and skin injury.




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