Porphyria

DEFINITIONS

Porphyria is a group of diseases caused by deficiency of enzymes involved in heme synthesis.

Heme is a chemical compound that carries oxygen and gives red color to blood.
Heme is a major component of the hemoprotein (a type of perotein contained in all networks).

A large number of heme synthesized in the bone marrow to make hemoglobin.
The liver also produces large amounts of heme and is mainly used as a component of the cytochrome.
Some of the cytochrome in the liver oxidize foreign chemicals, including drugs, making it easier to removed from the body.

porphyria the 3 types most commonly found are:
# Cutanea tarda Porfiria
# porphyria acute intermittent
# Protoporphyria eritropoetic.

All three are very different diseases; different symptoms, different diagnostic tests and different pengobatannyapun.
Some more poprfiria rare to have the same image to each other:
- Lack of delta-amino aminolevulinat dehidratase - eritropoetic congenital porphyria
- porphyria hepatoeritropoetic
- Koproporphyria hereditary
- Porphyria variegat.

porphyria can be categorized in several ways.
The most widely used is the grouping based on the enzyme deficiency.

Another grouping systems distinguish acute porphyria (which causes neurological symptoms) with cutaneous porphyria (which causes skin fotosensitivitas).

The third grouping system which divides porphyria be:
- porphyria hepatic: excess precursor is mainly from the heart
- porphyria eritropoetic: excess precursor mainly from bone marrow.

CAUSE

8 different kinds of enzymes that work on the stages in the manufacture of heme sequence.
If there is a deficiency of one enzyme that works on a series of heme production, the chemical precursor of heme to accumulate in tissue (especially in the bone marrow or liver).
These precursors (including the delta-aminolevulenat acid, and porphyrin porfobilinogen) will appear in the blood and excreted through urine or feces.

All porphyria, except porfiria kutanea tarda, is hereditary (an inherited condition).
All patients have a hereditary porphyria the same enzyme deficiency. But they have different mutations in the gene for this enzyme, except if coming from the same family.

SYMPTOMS

Causing excessive porphyrin fotosensitivitas, where someone will be very sensitive to sunlight.
This happens because when exposed to light and oxygen, will produce porphyrin oxygen-laden and unstable, which can damage the skin.

Nerve damage that causes pain and even paralysis.
Nerve damage occurs if found accumulation of delta-amino aminolevulenat and porfobilinogen.

Diagnosis

If you suspect an acute porphyria, then measured levels of acid and delta-aminolevulenat in urine porfobilinogen
If suspected a cutaneous porfiria, examination porphyrin levels in blood plasma.

Other tests (including measurements of enzymes of red blood cells) do if the result of one such screening test is abnormal.

TREATMENT

Treatment depends on the type porphyria happened.