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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%)