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1 대한내과학회지 : 제 85 권제 2 호 상염색체우성다낭신에서발견된무증상의 I 형담관낭종 가톨릭대학교의과대학 1 내과학교실, 2 영상의학교실 류승지 1 김경훈 1 김태완 1 반우호 1 이수림 2 김성수 1 김영옥 1 Autosomal Dominant Polycystic Kidney Disease with an Asymptomatic Type I Choledochal Cyst Seung Jee Ryu 1, Kyung Hoon Kim 1, Tae Wan Kim 1, Woo Ho Ban 1, Su Lim Lee 2, Sung Soo Kim 1, and Young Ok Kim 1 Departments of 1 Internal Medicine, 2 Radiology, The Catholic University of Korea College of Medicine, Seoul, Korea Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. Polycystic liver disease is commonly observed in ADPKD but rarely has it been associated with a choledochal cyst. We report a case of a choledochal cyst with ADPKD in a 60-year-old female patient with ADPKD and concomitant chronic renal failure who was admitted because of acute deterioration of kidney function due to poor oral intake. There was no history of a biliary disorder and her kidney function recovered promptly after fluid replacement. Non-enhanced computed tomography was performed to evaluate ADPKD and revealed numerous cysts in both kidneys and liver. It also showed fusiform dilatation of the extrahepatic bile ducts, a finding indicative of a choledochal cyst. Liver function was within the normal range and there was no evidence of extrahepatic biliary obstruction. Magnetic resonance cholangiopancreatography confirmed the diagnosis of a type I choledochal cyst combined with ADPKD. (Korean J Med 2013;85: ) Keywords: ADPKD; Choledochal cyst; Polycystic liver disease 서론상염색체우성다낭신 (autosomal dominant polycystic kidney disease, ADPKD) 은가장흔한유전성신질환의하나로서유병률이인구약 1,000명당 1명에이르고국내혈액투석환자의약 2% 를차지한다 [1]. ADPKD에서신장외낭종은간에서가장흔하게나타나며그외장기로췌장, 비장등에서 도발견된다. 그러나실질장기가아닌내장 (hollow viscus) 에서는낭종발생이거의보고되어있지않다. 간내담관에서발생하는낭종과관련된낭종성신장질환은상염색체열성다낭신 (autosomal recessive polycystic kidney disease, ARPKD) 이있다. ARPKD 는간내담관낭종과간섬유화를일으키는유전질환인 Caroli 병과연관성이높은것으로밝혀져있는상태이다 [2]. ARPKD 에비해 ADPKD는담관낭종과의관련 Received: Revised: Accepted: Correspondence to Young Ok Kim, M.D. Department of Internal Medicine, Uijeongbu St. Mary's Hospital, 271 Cheonbo-ro, Uijeongbu , Korea Tel: , Fax: , cmckyo@catholic.ac.kr Copyright c 2013 The Korean Association of Internal Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

- The Korean Journal of Medicine: Vol. 85, No. 2, 2013 - 성에대한보고가없었으나최근 ADPKD에서 Caroli 병이발견되고간외담관낭종이수예보고되면서 ARPKD 뿐만아니라 ADPKD와담관낭종과의관련가능성이제기되었다 [3]. 현재까지국내에서는 ADPKD 환자에서담관낭종이동반된증례는 1예만이보고되어있다 [4].

이후별다른치료없이지내오다 4년전에대뇌동맥류결찰술을했고, 9개월전에심방세동으로고주파절제술을했던과거력이있었다. 내원 3개월전외래에서검사했던혈청크레아티닌수치는 2.65 mg/dl로 MDRD GFR 은 19 ml/min/1.73 m 2 이었으며심부전증치료제로 furosemide 40 mg, carvedilol 6.25 mg을복용하고있었다.

2 - The Korean Journal of Medicine: Vol. 85, No. 2, 성에대한보고가없었으나최근 ADPKD에서 Caroli 병이발견되고간외담관낭종이수예보고되면서 ARPKD 뿐만아니라 ADPKD와담관낭종과의관련가능성이제기되었다 [3]. 현재까지국내에서는 ADPKD 환자에서담관낭종이동반된증례는 1예만이보고되어있다 [4]. 저자들은최근간담도질환의과거력이없는 ADPKD 환자에서복부전산화단층촬영과복부자기공명담췌관조영술을시행하여무증상의담관낭종을진단하였기에 ADPKD와담관낭종과의관련성에대한문헌고찰과함께보고하는바이다. 증례 60세여자환자가 3일간의전신쇠약과식욕저하로내원하였다. 환자는 6년전타병원에서복부초음파검사로 ADPKD 를진단받았고당시유전학적검사는시행하지않았다. 이후별다른치료없이지내오다 4년전에대뇌동맥류결찰술을했고, 9개월전에심방세동으로고주파절제술을했던과거력이있었다. 내원 3개월전외래에서검사했던혈청크레아티닌수치는 2.65 mg/dl로 MDRD GFR 은 19 ml/min/1.73 m 2 이었으며심부전증치료제로 furosemide 40 mg, carvedilol 6.25 mg을복용하고있었다. 환자는전신쇠약과식욕저하 로체중이 2 kg 감소되었고저혈압이발생하여입원하였다. ADPKD의유전학적검사는이루어지지않았으며담관결석, 췌장염등의간담도및췌장질환과거력은없었다. 가족중에어머니가 ADPKD를진단을받았으며간담도및췌장질환가족력은확인되지않았다. 내원당시활력징후는혈압 100/60 mmhg, 맥박수 54회 / 분, 호흡수 20회 / 분, 체온 36.5 였다. 구강점막은건조했고결막은창백하게보였다. 흉부청진은이상이없었고복부검사에서압통이나반발통은없었고정상장음이청진되었으며간비장종대는없었고양측복부에다낭신으로의심되는종괴가촉지되었다. 검사실소견은일반혈액검사에서백혈구 6,010/mm 3, 혈색소 7.2 g/dl, 혈소판 171,000/mm 3 였으며혈액요소질소 72.3 mg/dl, 크레아티닌 5.04 mg/dl, AST 12 IU/L, ALT 8 IU/L, ALP 95 IU/L, 총빌리루빈 0.76 mg/dl, 직접빌리루빈 0.28 mg/dl, Na 138 meq/l, K 4.2 meq/l, Cl 101 meq/l, 총콜레스테롤 143 mg/dl, 아밀라제 128 IU/L 였다. 철분검사결과철 54 ug/dl, 총철결합능 131 ug/dl, 페리틴 ng/ml였다. 요검사에서특이소견없었고 24시간요화학검사에서요단백양은 0.13 g/day 였다. 종양표지자검사에서 CA 19-9과 CEA는각각 U/mL, 1.0 ng/ml로정상범위였다. 단순흉부엑스선촬영과심전도에서별다른이상은없었다. ADPKD에의한만성신부전증에수분섭취장애와이뇨제 A B Figure 1. Pre-contrast computed tomography axial (A) and coronal (B) images reveal fusiform dilatation of the common bile duct (arrows) and multiple kidney cysts in the right (RK) and left (LK) kidneys

Multiple hepatic cysts are also noted. Table 1. Reported cases of choledochal cyst with polycystic kidney disease Author Age/Sex Chief complaint Type Treatment Kim,et al.

3 - Seung Jee Ryu, et al. ADPKD with type I choledochal cyst - A B Figure 2. Magnetic resonance cholangiopancreatography T2 weighted axial (A) and coronal (B) images show choledochal cyst (arrows) and polycystic appearance in the right (RK) and left (LK) kidneys. Multiple hepatic cysts are also noted. Table 1. Reported cases of choledochal cyst with polycystic kidney disease Author Age/Sex Chief complaint Type Treatment Kim,et al. [4] 32/M Dyspepsia I Resection of choledochal cyst, cholecystectomy Hasegawa et al. [3] 48/F None I Resection of choledochal cyst, chlecystectomy Waldron et al. [6] 31/M Jaundice IV Unknown Chait et al. [6] 69/M Nausea, epigastric pain IV Choledochotomy, cholecystectomy Berenguer et al. [6] 16/F Fever, jaundice V Cholecystectomy, splenectomy Takehara et al. [6] 74/F None V Unknown Jordan et al. [6] 47/M Nausea, vomiting V Cholecystectomy Present case 60/F General weakness I Supportive care 투여에의한혈장액감소로급성신부전증이합병되었다고판단하여곧바로이뇨제를중단하고수액주사를시행하였고신성빈혈에대한치료로조혈호르몬을피하주사하였다. 이후환자상태가점차안정되고혈청크레아티닌치도기저치로회복하였다. 환자는본원에서 ADPKD에대한영상학적검사를한차례도받지않은상태여서조영제를사용하지않은복부컴퓨터단층촬영을시행하기로하였다. 검사결과양쪽신장및전체간에걸쳐다발성저음영의낭종소견보여 ADPKD에합당한소견을보였으며추가로간내담관과총담관에걸쳐방추형의확장이관찰되었다 (Fig. 1). 담관낭종혹은간외담관협착에대한감별진단을위해복부자기공명담췌관조영술을시행하였고간내담관과총담관에걸쳐방추형의확장이관찰되었으며총담관협착이나유두부 주위종양은관찰되지않아제1형담관낭종으로진단되었다 (Fig. 2). 환자는복부통증등의임상증세가없고담관폐색증을시사하는혈청학적검사소견이없었고자기공명검사에서담낭액의배출에이상이없어외과적수술등의치료는하지않기로하고퇴원하여현재외래에서경과관찰중이다. 고찰 ADPKD는양측미만성낭성신장이특징적인유전적인전신성낭종질환으로현재까지알려진가장흔한유전병중하나이다. 임상경과는보통 30세이전에신낭종들이생기고 40대후반에신기능이감소하기시작하여 50대후반에말기

4 - 대한내과학회지 : 제 85 권제 2 호통권제 636 호 신부전에이르는경과를밟는다. ADPKD는신장뿐만아니라, 간, 뇌혈관, 심장등여러장기를침범하는전신적질환으로 [5] 본증례와같이 ADPKD에동반하는담관낭종은매우드문것으로알려져있다. ARPKD 환자에서는 Caroli 병등의담관낭종이동반된증례가다소보고되어있으나본증례와같이 ADPKD 환자에서담관낭종이동반된경우는표 1에요약한바와같이세계적으로도매우드물어수예만이보고되어있고 [3,6] 국내에서는 1예만이보고되어있을뿐이다 [4]. 담관낭종은간내또는간외담도의낭포성확장을보이는질환으로병인론에있어서는선천적, 후천적또는선천적기형이후천적질환을유발시키는지는아직도논란의대상이되고있다. 선천적병인으로는원시담관발생도중담도가완전히연결되기전에상피세포증식의불균형이발생하게되고담관의형성증식이더많은근위부는비정상적으로넓어지고, 상대적으로원위부는좁아진상태에서담관낭종을형성하는것으로알려지고있다 [2]. 후천적병인으로는췌관과담관사이의비정상적인관계로인하여췌관의정상압력보다높은압력에담관이노출되기때문에총수담관내로췌액의역류를초래하여담관낭종이형성된다 [7]. 담관낭종과감별진단이필요한질환중단순총수담관확장은영상학적검사를통해진단하게되는데, 총수담관확장의경우간내담관확장도동반되어나타나는경우가대부분이고총수담관확장부위하방에 2차적인원인병변이있을가능성이높다. 이번증례의경우간내담관확장이없고 2차적인원인병변이없으며혈청학적검사에서도담관폐색의증거가없으므로담관낭종으로진단하는것이합당할것으로보인다. 다낭신과담관낭종이동반되는발생기전에대해서는아직알려진것은없다. V형담관낭종의경우 Caroli 병에서와같은전신적섬유다낭종질환의발생과관련되어 ARPKD 환자에서종종보고되고있고최근 ARPKD 환자에서간외담도의확장소견이관찰되는것에대한유전자이상에대한연구가보고되고있다 [8]. 드문경우지만 ADPKD에서관찰된 Caroli 병에대한유전자이상에대한연구도보고된바있다 [9]. 이번증례의경우복부컴퓨터단층촬영이나복부자기공명담췌관조영술에서비정상췌담관접합이관찰되지않았고아밀라제역시정상범위로확인되어담관폐색증을시사하는혈청학적검사소견이없었으며담관협착의과거 력또한없었기때문에비정상췌담관접합에의한것이아니라발생시담관상피세포증식의불균형과같은선천적요인에의해담관낭종이형성되었거나우연히두질환이함께발생하였을것으로추정된다 [10]. 담관낭종은담관협착, 담석형성, 담관염등의합병증이발생할수있고악성화의위험도가높은것으로알려져있어서수술적으로제거하는것이좋다고알려져있다. 하지만이번증례와같이다낭신에동반된담관낭종의경우수술적절제는아직논의의여지가있다. Kim 등 [4] 이발표한증례에서는환자가복통을호소하였고합병증발생가능성을고려하여담관낭종에대해수술을시행하였으며수술중총담관내종양이발견되어동결절편생검을실시한결과선암종소견이보여유문보존췌-십이지장문합술과담낭절제술을시행하였다. Hasegawa 등 [3] 이발표한증례에서는비정상췌담관접합이완전히배제되지않았기때문에담낭절제술, 담관낭종절제술, 간소장문합술을시행했고수술할때담석이나종양은관찰되지않았으며수술중시행한담관조영술에서비정상췌담관접합은관찰되지않았다. 만약비정상췌담관접합이완전히배제된다면장기적인추적관찰을하는것도좋은선택방안이될수있다고기술하고있다. 이번증례의경우환자는복부통증등의임상증세가없고담관폐색의검사실소견이없어외과적수술등의치료는시행하지않고외래에서합병증발생여부에대해경과관찰중이다. 결론적으로 ADPKD 환자에서담관낭종이동반된경우는세계적으로도매우드물어수예만이보고되어있고치료에대해서도확실히정립되지않았다. 향후 ADPKD와담관낭종의연관성에대한유전학적, 발생학적연구및치료방법에대한연구가필요할것으로사료된다. 요약상염색체우성다낭신은가장흔한유전성신질환의하나로서유병률이인구약 1,000명당 1명에이르고국내혈액투석환자의약 2% 를차지한다. ADPKD에서신장외낭종은간에서가장흔하게나타나며그외장기로췌장, 비장등에서도발견되지만담관낭종이동반된경우는매우드물다. ADPKD를진단받고외래경과관찰중이던 60세여자환자가전신쇠약과식욕저하로내원하였고입원후실시한복부컴퓨터단층촬영및복부자기공명담췌관조영술에서

5 - 류승지외 6 인. 상염색체우성다낭신과담관낭종 - 다낭신에동반된 I형담관낭종으로진단되었다. 환자는담석혹은담도염등의과거력이전혀없고임상증세가없으며영상의학적검사에서외부종괴에의한담관압박소견이없이전형적인선천성의담관낭종형태를보이고있어외과적수술등의치료는시행하지않고외래에서경과관찰중이다. 전신적섬유다낭종의일환으로볼수있는다낭신과담관낭종의동반발생에대해서는아직발생기전이명확하게밝혀지지않았고치료방법또한정립되어있지않다. 앞으로두질환의유전적, 발생학적상관관계및치료에대한연구가필요할것으로생각한다. 중심단어 : 상염색체우성다낭신 ; 담관낭종 ; 다낭간 REFERENCES 1. Lee JG, Ahn CR, Hwang DY, et al. Cerebrovascular complications in autosomal dominant polycystic kidney disease. Korean J Med 2000;58: Sgro M, Rossetti S, Barozzino T, et al. Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound Obstet Gynecol 2004;23: Hasegawa T, Kim M, Kitayama Y, Kitamura K, Hiranaka T. Choledochal cyst associated with polycystic kidney disease: report of a case. HPB Surg 1999;11: Kim YJ, Kim JH, Park SM, et al. Type I choledochal cyst combined with polycystic kidney disease. Korean J Pancreatobiliary 2011;16: Lee KB, Kim H, Lee YR, et al. Clinical progression and complications of autosomal dominant polycystic kidney disease in Korea. Korean J Nephrol 1999;18: Waldron R, Drumm J, McCarthy CF, Murphy B. Choledochal cysts: report of three cases and review. Postgrad Med J 1984;60: Babbitt DP. Congenital choledochal cysts: new etiological concept based on anomalous relationships of the common bile duct and pancreatic bulb. Ann Radiol (Paris) 1969;12: Goilav B, Norton KI, Satlin LM, et al. Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. Pediatr Transplant 2006;10: Torra R, Badenas C, Darnell A, Brú C, Escorsell A, Estivill X. Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation : rapid communication. Kidney Int 1997;52: Dranssart M, Cognet F, Mousson C, Cercueil JP, Rifle G, Krause D. MR cholangiography in the evaluation of hepatic and biliary abnormalities in autosomal dominant polycystic kidney disease: study of 93 patients. J Comput Assist Tomogr 2002;26:

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<C1A63436C8B820BCBCB9CCB3AA2DC6EDC1FD2E687770> E-I. 개원가에서흔히보는담도췌장질환의해결 Room E 고려대학교의과대학구로병원소화기내과학교실 Bile Duct Dilatation (IHD and EHD) Jae Seon Kim Department of Internal Medicine, Guro Hospital, Korea University College of Medicine, Seoul, Korea 서론