Hemochromatosis : AR
1. Á¤ÀÇ
intestine¿¡¼ ºÎÀûÀýÇÏ°Ô ironÀÇ Èí¼ö°¡ Áõ°¡ÇÏ¿© °ú·®ÀÇ ironÀÌ parenchymal cell
¿¡ Ä§ÂøÇÏ¿© °á±¹¿£ tissue damage¸¦ ÁÖ°í Àå±â(ƯÈ÷ liver, pancreas, heart, pituitary)
ÀÇ ±â´ÉÀÌ»óÀ» ÃÊ·¡ÇÏ´Â ÁúȯÀÌ´Ù.
hemochromatosis: Áúº´»óÅÂ
hemosiderosis: stainable ironÀÌ Á¶Á÷¿¡ ÀÖ´Â °Í
¨ç genetic or hereditary hemochromatosis: chr 6pÀÇ HLA AÀ§Ä¡ÀÇ mutant gene
¨è acquired hemochromatosis: thalassemia or sideroblastic anemia¿Í °°Àº
iron-loading anemia
2. À¯º´·ü: heterozygote: 10%
homozygote: 0.3%
M >> F(5-10¹è) ¡ñ¿©ÀÚ´Â »ý¸®¿¡ ÀÇÇÑ loss°¡ Àֱ⠶§¹®
40-60´ë
3. º´ÀÎ
normal body iron content: 3-4g
ÇÏ·ç Àå Èí¼ö = ¼Ò½Ç·® M=1mg, F=1.5mg(mens)
hemochromatosis´Â 4mg/dÀÌ»ó Èí¼öµÇ¾î plasma iron¡è
-> transferrin saturation¡è -> plasma ferritin¡è
4. ÀÓ»ó¼Ò°ß
¨ç liver : ħ¹üµÇ´Â ù Àå±â
hepatomegaly: symptomatic ptÀÇ 95%ÀÌ»ó
fibrosis, cirrhosis
portal hypertension, esophageal varices´Â Laennec's cirrhosisº¸´Ù ÈçÄ¡ ¾Ê´Ù.
cirrhosis ptÀÇ 30%¿¡¼ HCC¹ß»ý
¡ÅÁß¿äÇÑ °ÍÀº liver cirrhosis°¡ ¿À±âÀü¿¡ Ä¡·áÇØ¾ß ÇÑ´Ù. µû¶ó¼ Á¶±âÁø´ÜÀÌ Áß¿ä.
¨è skin pigmentation :90%
face, neck, extensor
¨é DM: 65% pancreatitis
¨ê Arthritis: 25-50% hand, 2nd, 3rd MP joint
¨ë cardiac: 15% CHF -> death, cardiac arrhythmia
¨ì hypogonadism: pituitary failure
5. Áø´Ü
hepatomegaly, skin pigmentation, DM, heart disease, arthritis, hypogonadism
Hx: ´Ù¸¥ family member¿¡¼ °ü·ÃµÈ ÁúȯÀÌ ÀÖ´ÂÁö, alcohol, iron intake, vit C ingestion
excessive parenchymal iron storeÁõ¸í
: serum iron, transferrin saturation, serum ferritin, liver biopsy
deferoxamine¿¡ chelatingµÇ¾î ³ª¿À´Â ironÃøÁ¤, CT & MRI
* definite test: liver biopsy
6. Ä¡·á
¨ç phlebotomy 1-2ȸ/ÁÖ 2-3³â Çѹø¿¡ 500cc
¨è chelating agent: deferoxamine
7. ¿¹ÈÄ
*cause of death
i) cardiac failure(30%)
ii) hepatocellular disease(25%)
portal hypertension
iii) HCC(30%)