Severe familial intrahepatic cholestasis

Odièvre, M; Gautier, M; Hadchouel, M; Alagille, D

doi:10.1136/adc.48.10.806

Cited by 43 publications

(16 citation statements)

References 11 publications

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“…28 The diagnosis may be suspected if there is a positive family history. Recurrent episodes of cholestasis with progressive cirrhosis characterize the later course, and all patients die during childhood.…”

Section: Other Inborn Errors Of Metabolismmentioning

confidence: 99%

Management of Chronic Cholestasis in Childhood

Alagille¹

1985

Semin Liver Dis

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Section: Other Inborn Errors Of Metabolismmentioning

confidence: 99%

Management of Chronic Cholestasis in Childhood

Alagille¹

1985

Semin Liver Dis

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“…For patients with BRIC the results are variable, varying from shortening of the cholestatic episodes [24,124,125] to no effect at all [19,24,115,116,126] (Table 2C). Consequently cholestyramine seems to have no place in the treatment of PFIC, but it may be beneficial in patients with BRIC.…”

Section: Cholestyraminementioning

confidence: 95%

Liver disease associated with canalicular transport defects: Current and future therapies

Stapelbroek

Erpecum

Klomp

et al. 2010

Journal of Hepatology

157

152

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Bile formation at the canalicular membrane is a delicate process. This is illustrated by inherited liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and ABCG5/8, all encoding hepatocanalicular transporters. Effective treatment of these canalicular transport defects is a clinical and scientific challenge that is still ongoing. Current evidence indicates that ursodeoxycholic acid (UDCA) can be effective in selected patients with PFIC3 (ABCB4 deficiency), while rifampicin reduces pruritus in patients with PFIC1 (ATP8B1 deficiency) and PFIC2 (ABCB11 deficiency), and might abort cholestatic episodes in BRIC (mild ATP8B1 or ABCB11 deficiency). Cholestyramine is essential in the treatment of sitosterolemia (ABCG5/8 deficiency). Most patients with PFIC1 and PFIC2 will benefit from partial biliary drainage. Nevertheless liver transplantation is needed in a substantial proportion of these patients, as it is in PFIC3 patients. New developments in the treatment of canalicular transport defects by using nuclear receptors as a target, enhancing the expression of the mutated transporter protein by employing chaperones, or by mutation specific therapy show substantial promise. This review will focus on the therapy that is currently available as well as on those developments that are likely to influence clinical practice in the near future.

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“…A reduced concentration of biliary bile acids because of limited solubilizing capacity in patients with hepatic cirrhosis leads to an increased incidence of cholelithiasis. Children with Wilson's disease may have calcified pigment stones induced by recurrent episodes of hemolysis, and children with PFIC also appear prone to gallstone formation (13). As indicated above, children with the need for TPN prior to solid organ transplantation are at high risk of developing biliary sludge or gallstones (14).…”

Section: Risk Factors For Cholelithiasis In Pediatric Transplant Recimentioning

confidence: 99%

Cholelithiasis in pediatric organ transplantation: Detection and management

Ganschow¹

2002

Pediatric Transplantation

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The real incidence and the underlying causes of cholelithiasis in pediatric solid organ recipients is probably not exactly known. In addition to well-established risk factors for cholelithiasis, children after heart, kidney, or liver transplantation may develop gallstones due to drug therapy, sepsis, parenteral nutrition, or surgical complications. For pediatric patients, data are very limited and heterogeneous. However, the incidence in pediatric heart recipients seems to be substantially higher compared with kidney or liver graft recipients. In this review article the present data are discussed focusing on incidence, detection, and management of cholelithiasis in pediatric organ transplantation. In general, surgery is the therapy of choice in symptomatic patients; however, the pharmacological profile of ursodeoxycholic acid and the first results on its clinical impact are promising. The value of prophylactic therapy with ursodeoxycholic acid must be determined in further studies.

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Severe familial intrahepatic cholestasis

Cited by 43 publications

References 11 publications

Management of Chronic Cholestasis in Childhood

Management of Chronic Cholestasis in Childhood

Liver disease associated with canalicular transport defects: Current and future therapies

Cholelithiasis in pediatric organ transplantation: Detection and management

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