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 ¾ÇȽÃŰ¹Ç·Î ÇÇÇÑ´Ù.
¨è repeated phlebotomy: hepatic iron¡é
¨é chloroquine/hydroxychloroquine: °ú´Ù porphyrin¹è¼³ÃËÁø
¨ê ESRD¶© erythropoietinÅõ¿©