Efficacy of US-guided Percutaneous Cholecystocholangiography for the Early Exclusion and Type Determination of Biliary Atresia

Lee, Sang Yub; Kim, Gab Chul; Choe, Byung-Ho; Ryeom, Hun Kyu; Jang, Yun-Jin; Kim, Hye Jung; Park, Jin Young; Cho, Seung Man

doi:10.1148/radiol.11110665

Cited by 35 publications

(21 citation statements)

References 28 publications

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“…PFIC is a group of autosomal recessive disorders that disrupts bile acid secretion and presents with persistent intrahepatic cholestasis leading to early liver failure and death or liver transplantation before adulthood [456]. PFIC is divided into three types based on genetic cause: PFIC1 caused by mutations in ATP8B1 ; PFIC2, caused by mutations in ABCB11 ; and PFIC3, caused by mutations in ABCB4 .…”

Section: Discussionmentioning

confidence: 99%

“…The estimated prevalence of PFIC is between 1/50,000 and 1/100,000 and PFIC2 represents half of all cases. The initial presentation and clinical course of PFIC2 tend to be more severe than those of the other types [5]. Signs and symptoms of cholestasis usually appear in the neonatal period often resulting in end stage liver disease and/or progression to hepatobiliary malignancy within the first years of life.…”

Section: Discussionmentioning

confidence: 99%

“…Severity and duration of the acute cholestatic attacks vary both clinically and biochemically [5]. BRIC was previously believed to be a milder form of PFIC, but only recently was recognized as a different genetic liver disease [4].…”

Section: Discussionmentioning

confidence: 99%

“…Serum aminotransferases are higher or markedly elevated in PFIC, whereas normal or moderately elevated aminotransferases are usual in BRIC [3]. The most distinctive differentiation of the two syndromes is clinical course after early exclusion of extrahepatic biliary atresia [456]. Patients with PFIC progress to liver cirrhosis and will require liver transplantation later in life, whereas attacks in patients with BRIC last from several weeks to months and resolve spontaneously.…”

Section: Introductionmentioning

confidence: 99%

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Early Diagnosis ofABCB11Spectrum Liver Disorders by Next Generation Sequencing

Lee

Kim

Choe

et al. 2017

Pediatr Gastroenterol Hepatol Nutr

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PurposeThe goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis.MethodsFifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members.ResultsIdiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis.ConclusionABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Early Diagnosis ofABCB11Spectrum Liver Disorders by Next Generation Sequencing

Lee

Kim

Choe

et al. 2017

Pediatr Gastroenterol Hepatol Nutr

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“…The indications for hepatobiliary intervention in infants are very limited when compared with older children. 42 In our experience, the primary indications are treatment of high-flow vascular tumors and malformations, drainage of liver abscesses, occasionally a percutaneous cholecystostomy or direct percutaneous transhepatic cholangiogram for examining the gall bladder and ductal system, and rarely sclerotherapy of a hepatic cyst (Fig. 16).…”

Section: Hepatobiliiary Interventionsmentioning

confidence: 99%