Porphyria

1) Hepatic porphyria : neurologic sx

abdominal pain, neuropathy, mental disturbance

2) Erythropoietic porphyria: cutaneous photosensitivity

excess porphyrin이 long-wave UV에 excitation되어 cell damage, scarring,

deformation야기

Acute intermittent porphyria(AIP)

AD, HMB synthase결핍

1) 임상특징

① 유발요인: gonadal steroid, porphyrinogenic drug, low caloric diet

② 증상 i) neurovisceral sx

mc: abdominal pain

abdominal tenderness, fever(+), leukocytosis는 없거나 mild

∵inflammation이 아니라 neurologic manifestation이므로

ii) peripheral neuropathy: axonal degeneration(demyelination보다는)

: primary motor neuron affect

respiratory bulbar paralysis -> death

2) 진단

ALA, PBG↑

확진: HMB synthase측정-asymptomatic family member에 screening

3) 치료

i) 유발원인중 low caloric diet ∴glucose IV

그러나 이것보다 complete parenteral nutritional regimen이 더 낫다.

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

recovery속도는 neuronal damage정도에 달려있다.

iii) 통증이 심할땐 narcotic analgesics

narcotic analgesics: abdominal pain을 없애준다.

iv) phenothiazine: N/V에 사용

cf. AIP, HCP, VP에서 안전하게 사용할수 있는 약제

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

insulin, atropine

Porphyria cutanea tarda(PCT)

porphyria중 mc.

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

hepatic URO decarboxylase결핍

1) 임상특징

cutaneous photosensitivity: major clinical feature

neurologic manifestation×

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

bullae가 생긴다.

minor trauma가 bullae를 일으킬수 있다.

hypertrichosis, hyperpigmentation(얼굴), thickening, scarrring, calcification

2) 진단

urine: ALA약간증가, PBG : normal

uroporphyrin↑

3) 치료

① alcohol, estrogen, iron, drug은 악화시키므로 피한다.

② repeated phlebotomy: hepatic iron↓

③ chloroquine/hydroxychloroquine: 과다 porphyrin배설촉진

④ ESRD땐 erythropoietin투여