2024
Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases
Jiao J, Morotti R, Shafizadeh N, Jain D. Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases. American Journal Of Clinical Pathology 2024, aqae123. PMID: 39333837, DOI: 10.1093/ajcp/aqae123.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasisATP-binding cassette subfamily B member 4Whole-exome sequencingFamilial intrahepatic cholestasisIntrahepatic cholestasisDiagnostic challengeGroup of autosomal recessive disordersAbnormal liver function testsHomozygous splice site variantDrug-induced liver injuryHeterozygous frameshift mutationHeterozygous missense mutationLiver function testsAged 2 monthsAutosomal recessive disorderSplice site variantHistory of alcoholismABCB4 mutationsPediatric ageLiver biopsyClinical historyRecessive disorderLiver injuryMolecular testingHeterogeneous presentation
2015
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment
Boga S, Jain D, Schilsky ML. Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. Pediatric Gastroenterology Hepatology & Nutrition 2015, 18: 202-208. PMID: 26473142, PMCID: PMC4600706, DOI: 10.5223/pghn.2015.18.3.202.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasis type 3Wilson's diseaseElevated hepatic copperUrine copper excretionCurrent diagnostic criteriaAutosomal recessive disorderHepatic copper contentOlder patientsHepatocellular originUrsodeoxycholic acidDiagnostic criteriaMolecular genetic diagnosisCopper excretionABCB4 geneCholestasisDiagnosisBiochemical testingHepatic copperRecessive disorderType 3Novel mutationsGenetic diagnosisDiseaseMolecular diagnosticsTreatment