Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2

Gonzalès, Emmanuel; Spraul, Anne; Jacquemin, Emmanuel

doi:10.1038/ejhg.2013.187

Cited by 7 publications

(8 citation statements)

References 20 publications

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“…Mutations in these patients might be present in regulatory domains, untranslated regions, and introns that cannot be tested by present assessment methods [ 18 ]. Despite the absence of mutations or the presence of a single heterozygous ABCB11 mutation, the diagnostic sensitivity of clinical and pathologic findings with negative BSEP immunostaining is approximately 90% [ 19 ]. Therefore, absence of ABCB11 mutations cannot exclude PFIC type 2.…”

Section: Discussionmentioning

confidence: 99%

Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases

Namgoong

Hwang

Kwon

et al. 2022

Ann Hepatobiliary Pancreat Surg

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Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease requiring liver transplantation (LT). The objective of this study was to investigate the clinicopathological features and posttransplant courses of seven LT recipients with PFIC. Methods: This was a retrospective single-center study of patients with PFIC who underwent LT from January 2013 to June 2020. Results: Two and five patients were diagnosed with PFIC type 1 and type 2, respectively. For all seven patients, age of PFIC onset was at birth. Jaundice was present in all cases. Mean pretransplant total and direct bilirubin levels were 16.1 ± 8.1 mg/dL and 12.4 ± 6.2 mg/dL, respectively. Median patient age and body weight at LT were 10 months and 7 kg, respectively. Types of donors were mothers of patients in four and deceased donors in three. All five patients with PFIC type 2 recovered uneventfully. One patient each with PFIC type 1 underwent retransplantation due to graft failure or died due to multi-organ failure. Overall graft and patient survival rates at five years were 66.7% and 83.3%, respectively. Bile salt export pump immunohistochemical staining showed normal canalicular expression in two patients with PFIC type 1, focal loss in two patients with PFIC type 2, and total loss in three patients with PFIC type 2. Conclusions: LT is currently the only effective treatment for PFIC-associated end-stage liver diseases. It is mandatory to perform regular follow-up due to the risk of complications including steatohepatitis, especially for patients with PFIC type 1.

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Section: Discussionmentioning

confidence: 99%

Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases

Namgoong

Hwang

Kwon

et al. 2022

Ann Hepatobiliary Pancreat Surg

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“…About 80 and 100 genetic mutations have been identified in PFIC1 and PFIC2 patients, respectively [17,18]. Despite PFICs being autosomal recessive hereditary diseases, compound heterozygous or homozygous mutations may be associated with structural and functional defects.…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in these patients may be present in regulatory domains, untranslated regions, and introns, which cannot be tested by present methods [20]. Despite the absence of mutations or the presence of a single heterozygous ABCB11 mutation, the diagnostic sensitivity of clinical and pathologic findings with negative BSEP immunostaining is approximately 90% [18]. Therefore, the absence of ABCB11 mutations cannot exclude PFIC2.…”

Section: Discussionmentioning

confidence: 99%

Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients

Kang

Hong

et al. 2019

J Pathol Transl Med

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Background Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea. Methods The records of five patients histologically diagnosed with PFIC, one with PFIC1 and four with PFIC2, by liver biopsy or transplant were reviewed, and ATP8B1 and ABCB11 mutation status was analyzed by direct DNA sequencing. Clinicopathological characteristics were correlated with genetic mutations. Results The first symptom in all patients was jaundice. Histologically, lobular cholestasis with bile plugs was the main finding in all patients, whereas diffuse or periportal cholestasis was identified only in patients with PFIC2. Giant cells and ballooning of hepatocytes were observed in three and three patients with PFIC2, respectively, but not in the patient with PFIC1. Immunostaining showed total loss of bile salt export pump in two patients with PFIC2 and focal loss in two. Lobular and portal based fibrosis were more advanced in PFIC2 than in PFIC1. ATP8B1 and ABCB11 mutations were identified in one PFIC1 and two PFIC2 patients, respectively. One PFIC1 and three PFIC2 patients underwent liver transplantation (LT). At age 7 months, one PFIC2 patient was diagnosed with concurrent hepatocellular carcinoma and infantile hemangioma in an explanted liver. The patient with PFIC1 developed steatohepatitis after LT. One patient showed recurrence of PFIC2 after 10 years and underwent LT. Conclusions PFIC is not rare in patients with neonatal cholestasis of unknown origin. Proper clinicopathologic correlation and genetic testing can enable early detection and management.

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“…Insertion, deletion, nonsense, and splicing mutations of the implicated genes result in damaging effects. Detection of biallelic mutations is accepted as diagnostic [17,18,19].…”

Section: Mutational Analysismentioning

confidence: 99%

Progressive familial intrahepatic cholestasis in children

Sevinç¹,

Ağın²,

Doğan³

2018

Ann Gastroenterol Dig Syst

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Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2

Cited by 7 publications

References 20 publications

Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases

Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases

Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients

Progressive familial intrahepatic cholestasis in children

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