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Fırat Tıp Dergisi
2009, Cilt 14, Sayı 3, Sayfa(lar) 216-218
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Caroli'S Syndrome Associated with Medullary Sponge Kidney: A Case Report and Review of The Literature
Mehmet İlkin NAHARCI1, Gökhan ERDEM1, Cemal Nuri ERÇİN2, Teoman DOĞRU1, İlker TAŞÇI1, Fatih ÖRS3, Serkan TAPAN4, Alper SÖNMEZ1
1Gülhane Askeri Tıp Akademisi, İç Hastalıkları Anabilim Dalı, ANKARA, Türkiye
2Gülhane Askeri Tıp Akademisi, Gastroenteroloji Anabilim Dalı, ANKARA, Türkiye
3Gülhane Askeri Tıp Akademisi, Radyoloji Anabilim Dalı, ANKARA, Türkiye
4Gülhane Askeri Tıp Akademisi, Biyokimya Anabilim Dalı, ANKARA, Türkiye
Keywords: Caroli's syndrome, medullary sponge kidney, Karoli sendromu, medullar sünger böbrek
Summary
Herein, we presented a case of Caroli's syndrome associated with medullary sponge kidney and reviewed the literature. A 21-year-old male was admitted to our internal medicine department with the complaints of fatique, anorexia and recurrent right upper abdominal pain. Abdominal ultrasonography showed hepatomegaly and multiple dilated intrahepatic bile ducts. Computed tomography of the abdomen indicated cystic images distributed in both lobes of the liver and multiple medullary cysts within the kidneys. The magnetic resonance cholangiopancreatography (MRCP) pointed out multiple cystic dilatations of intrahepatic bile ducts. The main bile duct and extrahepatic bile ducts were appeared to be normal. The patient had a brother who had been diagnosed of Caroli's syndrome 12 years ago. Radiologic investigation of the other family members revealed no abnormality.
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  • Summary
  • Introduction
  • Case Presentation
  • Disscussion
  • References
  • Introduction
    Caroli's disease is a congenital disorder characterized by multifocal, segmental dilatation of large intrahepatic bile ducts. Caroli's syndrome includes both of Caroli's disease and congenital hepatic fibrosis1. Caroli's disease and Caroli's syndrome are extremely rare disorders (1 case per 1,000,000 populations), with autosomal recessive inheritance pattern2. The disease may emerge anytime in life but is unusual after the fifth decade. Its clinical course is characterized by repeated episodes of bacterial cholangitis due to biliary stagnation within the dilated ducts3,4. Caroli's syndrome is associated with renal cystic dilatations in 60-80% of patients. Medullary sponge kidney is most frequently noted kidney disorder5. Herein, we present a case of Caroli's syndrome associated with medullary sponge kidney.
  • Top
  • Summary
  • Introduction
  • Case Presentation
  • Disscussion
  • References
  • Case Presentation
    A 21-year-old male was referred to our internal medicine department with the complaints of fatique, anorexia and recurrent right upper abdominal pain. His complaints had been present for 8 years. His family history was evident for a male sibling that had been diagnosed of Caroli's syndrome 12 years ago. Radiologic investigation of the other family members revealed no abnormality.

    Physical examination revealed an enlarged liver, palpable 3 cm below the right costal margin. Pertinent laboratory investigation was as follows: Complete blood count and routine biochemical analysis revealed as; hemoglobin: 14.1 g/dl, leukocyte count: 12.700 /mm3, platelet count: 220.000 /mm3, blood urea nitrogen: 34 mg/dl, creatinine: 0.7 mg/dl, total bilirubine: 0.6 mg/dl, alanine aminotransferase: 8 U/l, aspartate aminotransferase: 20 U/l, alkaline phosphatase: 121 U/l. Urin analysis was normal.

    Plain x-ray of the abdomen was unremarkable. Abdominal ultrasonography showed hepatomegaly, multiple dilated intrahepatic bile ducts and multiple cystic dilatations within both kidneys. Computed tomography of the abdomen indicated cystic images distributed in both lobes of the liver and multiple medullary cysts within the kidneys (Figure 1). Magnetic resonance cholangiopancreatography (MRCP) was performed, which pointed out multiple cystic dilatation of the intrahepatic duct (Figure 2). The main bile duct and extrahepatic bile ducts were normal.


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    Figure 1: CT scans showing cysts in liver and in kidneys.


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    Figure 2: MRCP showing cystic dilatations of the intrahepaticbile duct.

    Based on these clinical and laboratory findings, he was diagnosed as Caroli's syndrome with medullary sponge kidney, and then he has currently being followed up at our out-patient department for the complications of Caroli's syndrome.

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  • Summary
  • Introduction
  • Case Presentation
  • Disscussion
  • References
  • Discussion
    The disease was firstly described by Caroli et al. and has autosomal recessive inheritance3. Two types of the disease have been identified, type 1 (Caroli's disease) and type 2 complex form (Caroli's syndrome) which is associated with congenital hepatic fibrosis, portal hypertension and cirrosis6. Caroli's disease may be localized to one lobe of liver or may be diffuse.

    The clinical manifestations of Caroli's syndrome are related to the biliary abnormalities and portal hypertension7. There are several clinical presentations depending on the age of onset and the predominance of hepatic or renal involvement. In both Caroli's disease and syndrome, the saccular or fusiform dilatation of bile ducts predisposes to stagnation of bile leading to the formation of biliary sludge and intraductal lithiasis. Bacterial cholangitis occurs frequently and may be complicated by septicemia and hepatic abscess2. Patients with Caroli's syndrome can present with portal hypertension and its squeal, such as ascites and esophageal variceal hemorrhage. Other patients present only with intermittent abdominal pain. Pruritus is common.

    On physical examination, the liver is frequently enlarged. Patients with renal involvement may also have enlarged kidneys, which may be palpable. Laboratory studies typically show an elevation of serum alkaline phosphatase, direct billirubin, and a leukocytosis with a predominance of neutrophils. Hepatic synthetic function is well preserved initially, but may be affected by progressive liver damage due to recurrent cholangitis and biliary obstruction. Coagulopathy from vitamin K malabsorption may occur in cholestatic patients8,9.

    The diagnosis of Caroli's disease and Caroli's syndrome is established by imaging studies that demonstrate bile duct ectasia and irregular, cystic dilation of the large proximal intrahepatic bile ducts with a normal common bile duct. These findings can readily be identified with ultrasonography, endoscopic retrograde cholangiopancreatography, or magnetic resonance imaging which can also demonstrates the renal features of cystic disease2,6. A liver biopsy is rarely required for the diagnosis.

    Renal lesions and choledocal cysts are the associated conditions with Caroli's syndrome. Renal anomalies include renal tubular ectasia (medullary sponge kidney, cortical cyst), adult recessive polycystic kidney disease, and rarely autosomal dominant polycystic kidney disease10,11. Medullary sponge kidney is described by ectatic and cystic malformations of the collecting ducts and tubules of one or more papillae of one or both kidneys. These anatomic abnormalities produce no symptoms. The morbidity of this disorder is the result from nephrolithiasis and urinary tract infection, both of which are thought to be secondary to the anatomic abnormalities12.

    There is no curative treatment for Caroli's disease. Treatment is mainly supportive and should be individualized. Cholangitis and sepsis are treated with appropriate antibiotics and biliary stone extraction whenever feasible5. Endoscopic sphincterotomy and stone extraction can be used to remove common duct stones. In contrast, the extraction of intrahepatic stones is far more difficult5. Patients, who have recurrent attacks of biliary infection, particulary those who also have complications related to portal hypertension, may need liver transplantation7. Patients who have developed esophageal varices should receive prophylaxis with a non-selective beta blocker13. A selective shunting procedure can provide relief from portal hypertension if liver function may be well preserved14. Unexplained clinical deterioration or the appearance of a new biliary stricture should raise a concern that cholangiocarcinoma has developed15.

    Asymptomatic patients with medullary sponge kidney require no specific therapy except to maintain high fluid intake to reduce the risk of nephrolithiasis. Infection should be treated aggressively, and instrumentation of the urinary tract should be minimized to avoid infection. The prognosis is variable depending on the severity of liver disease and the presence of coexisting renal dysfunction. Since the risk of cholangiocarcinoma is increased up to 7 percent, screening for this complication important16.

    Our patient exhibited clinical and radiologic findings for Caroli's syndrome with medullary sponge kidney. The absence of symptom and laboratory finding of hepatic or renal dysfunction enabled us to keep track progress and observe him until the development of complication.

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  • Summary
  • Introduction
  • Case Presentation
  • Discussion
  • References
  • References

    1) Wu KL, Changchien CS, Kuo CM, et al. Caroli's disease-a report of two siblings. Eur J Gastroenterol Hepatol 2002; 14:1397-1399.

    2) Madjov R, Chervenkov P, Madjova V, Balev B. Caroli's disease. Report of 5 cases and review of literature. Hepatogastroenterol 2005; 52:606-609.

    3) Caroli J. Diseases of the intrahepatic biliary tree. Clin Gastroenterol 1973; 2:147-161.

    4) Benhamou JP. Congenital hepatic fibrosis and Caroli's syndrome. In: Schiff L, Schiff ER, eds. Diseases of the liver. 7th ed. Philadelphia, Pa: Lippincott, 1993; 1204-1209.

    5) Yonem O, Bayraktar Y. Clinical characteristics of Caroli's syndrome. World J Gastroenterol 2007; 13: 1934-1937.

    6) Hussain SZ, Bloom DA, Tolia V. Caroli's disease diagnosed in a child by MRCP. Clin Imaging 2002; 24: 289-291.

    7) De Kerckhove L, De Meyer M, Verbaandert C, et al. The place of liver transplantation in Caroli's disease and syndrome. Transpl Int 2006; 19:381-388.

    8) Suchy FJ. Cystic diseases of the biliary tract and liver. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics. 17th ed. Philadelphia: WB Saunders, 2004;1343-1344.

    9) De Tommaso AM, Santos DS, Hessel G. Caroli's disease : 6 case studies. Acta Gastroenterol Latinoam 2003; 33:47-51.

    10) Mall JC, Chahremani GG, Boyer JL, Caroli's disease associated with congenital hepatic fibrosis and renal tubular ectasia. Gastroenterol 1974; 66:1029-1053.

    11) Bernstein J, Slovis TI. Polycystic disease of the kidney. In Elderman CM Jr eds Paediatric Kidney Disease. Vol. 2, I Boston; Little Brown, 1992:1139-1153.

    12) Mrowka C, Adam G, Sieberth HG, Matern S. Caroli's syndrome associated with medullary sponge kidney and nephrocalcinosis. Nephrol Dial Transpl 1996; 11:1142-1145.

    13) Abdullah AM, Nazer H, Atiyeh M, Ali MA. Congenital hepatic fibrosis in Saudi Arabia. J Trop Pediatr 1991; 37:240-243.

    14) Shun A, Delaney DP, Martin HC, Henry GM, Stephen M. Portosystemic shunting for pediatric portal hypertension. J Pediatr Surg 1997; 32: 489-493.

    15) Dayton MT, Longmire WP, Tompkins RK. Caroli's disease: a premalignant condition?. Am J Surg 1983; 145:41-47.

    16) Totkas S, Hohenberger P. Cholangiocellular carcinoma associated with segmental Caroli's disease. Eur J Surg Oncol 2000; 26: 520-521.

  • Top
  • Summary
  • Introduction
  • Case Presentation
  • Discussion
  • References
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