Plectin Mutations in Progressive Familial Intrahepatic Cholestasis
Sign Up to like & getrecommendations! Published in 2019 at "Hepatology"
DOI: 10.1002/hep.30841
Abstract: Neonates and infants are susceptible to cholestatic liver diseases. At least six genes are causative for progressive familial intrahepatic cholestasis (PFIC), and more genetic defects are known to cause infant cholestasis.(1) Approximately one-third of PFIC… read more here.
Keywords: familial intrahepatic; plec; progressive familial; intrahepatic cholestasis ... See more keywords
Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of pediatric genetics"
DOI: 10.1055/s-0036-1597912
Abstract: Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due… read more here.
Keywords: familial intrahepatic; progressive familial; intrahepatic cholestasis; pfic ... See more keywords
Odevixibat: a promising new treatment for progressive familial intrahepatic cholestasis
Sign Up to like & getrecommendations! Published in 2022 at "Expert Opinion on Pharmacotherapy"
DOI: 10.1080/14656566.2022.2140040
Abstract: ABSTRACT Introduction Progressive familial intrahepatic cholestasis (PFIC) refers to a group of heterogeneous, mostly autosomal recessive disorders resulting from the inability to properly form and excrete bile from hepatocytes. The resulting shared phenotype is one… read more here.
Keywords: cholestasis; odevixibat promising; familial intrahepatic; progressive familial ... See more keywords
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000015593
Abstract: Rationale: Neonatal cholestasis is one of the most serious diseases in infancy. Progressive familial intrahepatic cholestasis (PFIC) is a disease that leads to intrahepatic cholestasis. It is one of the common causes of neonatal cholestasis… read more here.
Keywords: cholestasis; intrahepatic cholestasis; progressive familial; biliary atresia ... See more keywords
Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review
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DOI: 10.1111/liv.15200
Abstract: Progressive familial intrahepatic cholestasis (PFIC) is a collective term for a heterogenous group of rare, inherited cholestasis syndromes. The number of genes underlying the clinical PFIC phenotype is still increasing. While progressive liver disease and… read more here.
Keywords: cholestasis; extrahepatic manifestations; familial intrahepatic; progressive familial ... See more keywords
Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis
Sign Up to like & getrecommendations! Published in 2020 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-234185
Abstract: Untreated progressive familial intrahepatic cholestasis (PFIC) type 2, or bile salt exporter protein deficiency, frequently leads to severe pruritus, impaired growth and progressive liver fibrosis with risk of organ failure. We describe a 15-month-old male… read more here.
Keywords: partial external; familial intrahepatic; progressive familial; intrahepatic cholestasis ... See more keywords
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02177-0
Abstract: Background Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is published in this area. We report health-related quality… read more here.
Keywords: picture study; familial intrahepatic; progressive familial; pfic ... See more keywords
Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects
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DOI: 10.3390/ijms22010273
Abstract: Progressive Familial Intrahepatic Cholestasis (PFIC) are inherited severe liver disorders presenting early in life, with high serum bile salt and bilirubin levels. Six types have been reported, two of these are caused by deficiency of… read more here.
Keywords: familial intrahepatic; gene therapy; progressive familial; intrahepatic cholestasis ... See more keywords
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pathology and Translational Medicine"
DOI: 10.4132/jptm.2019.05.03
Abstract: 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… read more here.
Keywords: pfic2; familial intrahepatic; pfic1; progressive familial ... See more keywords
Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Hepatology"
DOI: 10.4254/wjh.v14.i1.98
Abstract: Recent evidence points towards the role of genotype to understand the phenotype, predict the natural course and long term outcome of patients with progressive familial intrahepatic cholestasis (PFIC). Expanded role of the heterozygous transporter defects… read more here.
Keywords: updates progressive; familial intrahepatic; progressive familial; intrahepatic cholestasis ... See more keywords