Dubin–Johnson syndrome with cholecystolithiasis and choledocholithiasis PDF

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CASE REPORT – OPEN ACCESS International Journal of Surgery Case Reports 4 (2013) 587–588 Contents lists available at SciVerse ScienceDirect International Journal of Surgery Case Reports journal homepage: www.elsevier.com/locate/ijscr Dubin–Johnson syndrome with cholecystolithiasis and choledocholith...

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CASE REPORT – OPEN ACCESS International Journal of Surgery Case Reports 4 (2013) 587–588

Contents lists available at SciVerse ScienceDirect

International Journal of Surgery Case Reports journal homepage: www.elsevier.com/locate/ijscr

Dubin–Johnson syndrome with cholecystolithiasis and choledocholithiasis Lei Zhou, Chang Liu ∗ , Jigang Bai, Shunbin Dong, Jichao Wei Department of Hepatobiliary Surgery, the First Affiliated Hospital, School of Medicine, Xi’an Jiao Tong University, Xi’an 710061, China

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Article history: Received 17 January 2013 Accepted 9 April 2013 Available online 17 April 2013 Keywords: Dubin–Johnson syndrome (DJS) Cholecystolithiasis Choledocholithiasis

a b s t r a c t INTRODUCTION: Dubin–Johnson syndrome (DJS) is unusual during common medical work. Moreover, cholecystolithiasis and choledocholithiasis involvement has not been reported. PRESENTATION OF CASE: We describe a case of DJS complicated by cholecystolithiasis and choledocholithiasis. A 49-year-old man accepted by outpatient complained with intermittent cramping pain in right upper abdomen. It is diagnosed as cholecystolithiasis and choledocholithiasis. We found the dark greenish liver when the operation was performed. Liver biopsy confirms the DJS. DISCUSSION: It is the firstly reported case DJS related to the cholecystolithiasis and choledocholithiasis. CONCLUSION: Cholecystolithiasis and choledocholithiasis may develop in DJS. DJS is possible a reason for cholecystolithiasis and choledocholithiasis, not just likely a chance occurrence. © 2013 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

1. Introduction In 1954, Dubin and Johnson reported 12 patients with hyperbilirubinemia. The results revealed that unidentified pigment in liver cells.1 Clinical features of Dubin–Johnson syndrome usually include a predominantly conjugated hyperbilirubinemia and a dark liver whose color can range from black to slate gray. Patients may present with abdominal pain, fatigue, dark urine and so on. Many DJS patients have a favorable prognosis, although many clinical symptoms accompanied with them. However, it is indefinitely whether DJS can cause other diseases just like cholecystolithiasis and choledocholithiasis. Here we report a DJS patient with cholecystolithiasis and choledocholithiasis in order to provide some clue to explore their relationship. 2. Case presentation We report a case of Dubin–Johnson syndrome presenting with cholecystolithiasis and choledocholithiasis. This case confirms that Dubin–Johnson syndrome is a cause of cholecystolithiasis and choledocholithiasis. Our hepatobiliary surgery outpatient department accepted a 49-year-old man, who presented with asymptomatic mild-moderate yellow skin, sclera and urine for about 40 years. The jaundice was not accompanied with fever, abdominal pain or any mass. Besides, the patient was also without related itching, pale stool and weakness. The patient does not pay great attention to these abnormal presentations until suffered from intermittent cramping pain in right upper abdomen as well as radiating to the interscapular region a month ago. The patient

did not represent other discomforts such as fever, shiver, abdominal distension and diarrhea. Additionally, there was no apparent loss in body weight. The patient has no history of hepatobiliary or other systematic diseases. The heart and lung was normal. It is necessary to stress on that his only brother also has history of long-term jaundice. None in his relatives has similar problems. A physical examination revealed abdomen flat with slight tenderness over the right upper quadrant as well as no muscular spasm and rebound tenderness. The liver and spleen cannot be touched distance from costal margin, and there had no tenderness while palpation. Examination of other systems showed nothing abnormal. Investigations revealed the following values: total serum bilirubin 140.27 ␮mol/L, direct serum bilirubin 72.56 ␮mol/L, indirect serum bilirubin 67.71 ␮mol/L, aspartate aminotransferase 70 U/L, alanine aminotransferase 164 U/L, r glutamyltransferase 252 U/L, serum alkaline phosphatase 128.72 U/L. HBsAg, anti-HBc (total) and anti-HCV were negative. The levels of tumor markers assessed, including CA125 and carcinoembryonic antigen (CEA), were within the normal ranges. Abdominal sonography and magnetic resonance cholangiopancreatography showed cholecystolithiasis and choledocholithiasis. After elaborative preparation, we decided to perform cholecystectomy and choledocholithotomy. However, we were surprised at the dark greenish liver (Fig. 1). We felt ordinary consistency and smooth surface when touched it. A liver biopsy was performed. Fig. 2 showed normal lobular architecture and the coarse dark-brown pigmented granules scattered among hepatocytes cytoplasm. Both the clinical and liver biopsy features were consistent with those of Dubin–Johnson syndrome. 3. Discussion

∗ Corresponding author. Tel.: +86 029 85323900. E-mail address: [email protected] (C. Liu).

Dubin–Johnson syndrome (DJS) is an autosomal recessive disorder. DJS is caused by the deficiency of canalicular multispecific

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L. Zhou et al. / International Journal of Surgery Case Reports 4 (2013) 587–588

The beginning of the DJS is usually in early adulthood, commonly companied with mild symptoms which always been ignored. Occasionally patients complain of weakness and vague abdominal pain, and associating with no obvious physical signs.3,4 Actually, most DJS patients have a normal life span. Regarding to the single DJS, treatment is usually unnecessary because the favorable prognosis. This patient presented with cholecystolithiasis and choledocholithiasis. It suggested that Dubin–Johnson syndrome (DJS) maybe a cause of cholecystolithiasis and choledocholithiasis. The diagnosis of DJS is mainly according to liver biopsy which shows brown pigment inside hepatocytes. Finally, we performed cholecystectomy and choledocholithotomy. It is the first time to report DJS with cholecystolithiasis and choledocholithiasis. The role of Dubin–Johnson syndrome in cholecystolithiasis and choledocholithiasis remains elusive. During clinical works, liver biopsy should be done in time to confirm whether patients have DJS when they repeatedly occurred with conjugated and unconjugated hyperbilirubinemia as well as normal serum transaminase but without obstruction in or outside liver and other liver diseases. Fig. 1. Abdominal wall has been opened, the dark greenish liver exposed.

Conflict of interest statement None declared. Funding None. Ethical approval Written informed consent was obtained from the patient for the publication of this case report and accompanying images. Authors’ contributions L.Z. and J.C.W. wrote the manuscript. C.L., J.G.B., S.B.D. and L.Z. carried out the operation. References

Fig. 2. Liverbiopsy specimen showing normal lobular architecture and the coarse dark-brown pigmented granules scattered among hepatocytes cytoplasm.

1. Dubin I, Johnson F. Chronic idiopathic jaundice with unidentified pigment in liver cells: a new clinicopathologic entity with a report of 12 cases. Medicine 1954;33:155–97. 2. Paulusma CC, Kool M, Bosma PJ, et al. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin–Johnson syndrome. Hepatology 1997;25:1539–42. 3. Dubin IN. Chronic idiopathic jaundice: a review of 50 cases. American Journal of Medicine 1958;24:268–92. 4. Shani M, Seligsohn U, Gilon E, Sheba C, Adam A. Dubin–Johnson syndrome in Israel, clinical laboratory, and genetic aspects of 101 cases. Quarterly Journal of Medicine 1970;39:549–67.

organic anion transporter (cMOAT) gene (ABCC2/MRP2 superfamily), which is located at10q24.2.2 Patients with DJS usually show accumulation of conjugated and unconjugated bilirubin in blood test. Although they always present a continual hyperbilirubinemia, the results of liver panel are mostly normal.

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