Samheiti: Erythrozyten-porphyrine, Protoporphyrin freies , Free erythrocyte protoporphyrin
Sýnataka, geymsla og sýnasending
Gerđ sýnis : EDTA-blóđ, má vera heparín-blóđ
Setja álpappír utan um glasiđ.
Sýni tekiđ í glas međ fjólubláum tappa án gels (svört miđja) . Einnig má taka í heparín plasmaglas međ grćnum tappa međ geli (gul miđja).
Magn: 5 ml (min 2,5 ml) . Ekki skilja niđur
Geymsla sýnis: Kćlir. Byrgja fyrir ljósi međ ađ setja álpappír utan um glasiđ.
Sýnasending: Hrađsending til útlanda.
http://www.laborvolkmann.de/analysenspektrum/HTML/index.html Finna: Protoporphyrin freies
Yfirlit yfir phorphyrine mćlingar hjá Volkmann.pdf
Fróđleikur: The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Depending on the specific enzyme involved, various porphyrins and their precursors accumulate in different specimen types. The patterns of porphyrin accumulation in erythrocytes and plasma and excretion of the heme precursors in urine and feces allow for the detection and differentiation of the porphyrias.
Free erythrocyte protoporphyrin (FEP) is a precursor of Heme and normally occurs in very low concentration in red blood cells (RBC); elevated values indicate early impaired iron nutritional status
Testing erythrocyte porphyrin level is most informative for patients with a clinical suspicion of erythropoietic protoporphyria (EPP) or X-linked dominant protoporphyria (XLDPP). Clinical presentation of EPP and XLDPP is identical with onset of symptoms typically occurring in childhood. Cutaneous photosensitivity in sun-exposed areas of the skin generally worsens in the spring and summer months. Common symptoms may include itching, edema, erythema, stinging or burning sensations, and occasionally scarring of the skin in sun-exposed areas. Although genetic in nature, environmental factors exacerbate symptoms, significantly impacting the severity and course of disease.
EPP is caused by diminished ferrochelatase activity resulting in significantly increased free protoporphyrin levels in erythrocytes, plasma, and feces.