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Porphyria

1) Hepatic porphyria : neurologic sx

abdominal pain, neuropathy, mental disturbance

2) Erythropoietic porphyria: cutaneous photosensitivity

excess porphyrinÀÌ long-wave UV¿¡ excitationµÇ¾î cell damage, scarring,

deformation¾ß±â

Acute intermittent porphyria(AIP)

AD, HMB synthase°áÇÌ

1) ÀÓ»óƯ¡

¨ç À¯¹ß¿äÀÎ: gonadal steroid, porphyrinogenic drug, low caloric diet

¨è Áõ»ó i) neurovisceral sx

mc: abdominal pain

abdominal tenderness, fever(+), leukocytosis´Â ¾ø°Å³ª mild

¡ñinflammationÀÌ ¾Æ´Ï¶ó neurologic manifestationÀ̹ǷÎ

ii) peripheral neuropathy: axonal degeneration(demyelinationº¸´Ù´Â)

: primary motor neuron affect

respiratory bulbar paralysis -> death

2) Áø´Ü

ALA, PBG¡è

È®Áø: HMB synthaseÃøÁ¤-asymptomatic family member¿¡ screening

3) Ä¡·á

i) À¯¹ß¿øÀÎÁß low caloric diet ¡Åglucose IV

±×·¯³ª À̰ͺ¸´Ù complete parenteral nutritional regimenÀÌ ´õ ³´´Ù.

ii) IV heme: hematin, heme albumin, heme arginate

recovery¼Óµµ´Â neuronal damageÁ¤µµ¿¡ ´Þ·ÁÀÖ´Ù.

iii) ÅëÁõÀÌ ½ÉÇÒ¶© narcotic analgesics

narcotic analgesics: abdominal painÀ» ¾ø¾ÖÁØ´Ù.

iv) phenothiazine: N/V¿¡ »ç¿ë

cf. AIP, HCP, VP¿¡¼­ ¾ÈÀüÇÏ°Ô »ç¿ëÇÒ¼ö ÀÖ´Â ¾àÁ¦

narcotics, aspirin, acetaminophen, phenothiazine, PCN, SM, glucocorticoid, bromide,

insulin, atropine

Porphyria cutanea tarda(PCT)

porphyriaÁß mc.

sporadic(type I), familial(type II and III)

hepatic URO decarboxylase°áÇÌ

1) ÀÓ»óƯ¡

cutaneous photosensitivity: major clinical feature

neurologic manifestation¡¿

sun-exposed area(face, dorsa of hand, feet, forearm, leg)¿¡ fluid-filled vesicle,

bullae°¡ »ý±ä´Ù.

minor trauma°¡ bullae¸¦ ÀÏÀ¸Å³¼ö ÀÖ´Ù.

hypertrichosis, hyperpigmentation(¾ó±¼), thickening, scarrring, calcification

2) Áø´Ü

urine: ALA¾à°£Áõ°¡, PBG : normal

uroporphyrin¡è

3) Ä¡·á

¨ç alcohol, estrogen, iron, drugÀº ¾ÇÈ­½ÃŰ¹Ç·Î ÇÇÇÑ´Ù.

¨è repeated phlebotomy: hepatic iron¡é

¨é chloroquine/hydroxychloroquine: °ú´Ù porphyrin¹è¼³ÃËÁø

¨ê ESRD¶© erythropoietinÅõ¿©