Table 4.

Pediatric Genetic Cholestatic Liver Diseases: Treatment of Manifestations and Surveillance Issues for Disorders of Transport of Bile Acids or Phospholipids

Gene 1DisorderPruritus ManagementLiver TransplantationSurveillance
RxBiliary diversion 2, 3
ABCB4 PFIC3; MDR3 deficiencyRifaximin, cholestyramine, naltrexone, sertraline, odevixibat (IBAT)++For HCC
ABCB11 PFIC2; BSEP deficiency+ but less helpful in severe PFIC2Anti-BSEP antibodies can occur afterward & cause recurrent disease.
ATP8B1 ATP8B1 deficiency; PFIC1; Byler syndrome+Transplant possible, but worsening diarrhea & allograft steatohepatitis are post-transplant complications.
KIF12 KIF12 deficiencyRifaximin, cholestyramine, naltrexone, sertralineUnknownCase reports [Maddirevula et al 2019, Stalke et al 2022]
MYOB5 Myosin VB deficiency++ when pruritus is refractory
NR1H4 PFIC5Not used due to rapid progression to ESLD 4+
TJP2 PFIC4+Transplantation possible at younger age due to severity of neonatal disease 4For HCC
USP53 USP53 deficiencyRifaximin more effective than UDCA 5UnknownUnknown

BSEP = bile salt export pump; ESLD = end-stage liver disease; HCC = hepatocellular carcinoma; PFIC = progressive familial intrahepatic cholestasis; UDCA = ursodeoxycholic acid

1.

Genes are listed alphabetically.

2.

The surgical treatment for pruritus used in most cases is a partial external biliary diversion (PEBD). A partial internal biliary diversion (PIBD) and ileal exclusion have been documented as other methods of surgical treatment of pruritus.

3.

PEBD is associated with an excellent long-term outcome when serum bile acid levels normalize within one year.

4.
5.

From: Pediatric Genetic Cholestatic Liver Disease Overview

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