ABCB4 Antibody
- Known as:
- ABCB4 Antibody
- Catalog number:
- GWB-MN931D
- Product Quantity:
- 50ug
- Category:
- -
- Supplier:
- GenWay
- Gene target:
- ABCB4 Antibody
Related genes to: ABCB4 Antibody
- Gene:
- ABCB4 NIH gene
- Name:
- ATP binding cassette subfamily B member 4
- Previous symbol:
- PGY3, MDR3
- Synonyms:
- MDR2, PFIC-3, GBD1
- Chromosome:
- 7q21.12
- Locus Type:
- gene with protein product
- Date approved:
- 1988-05-11
- Date modifiied:
- 2016-10-05
Related products to: ABCB4 Antibody
Related articles to: ABCB4 Antibody
- Progressive familial intrahepatic cholestasis type 3 (PFIC-3), caused by pathogenic variants in the ABCB4 gene, is a rare inherited cholestatic liver disorder that often presents later in childhood. In some patients, hematologic manifestations may dominate the clinical picture and delay recognition of the underlying liver disease. We report a 4-year-old girl referred for evaluation of anemia, hepatosplenomegaly, and recurrent bleeding. Initial investigation focused on primary hematologic causes. However, imaging revealed portal hypertension with esophageal varices, and genetic testing identified a homozygous pathogenic ABCB4 variant, confirming the diagnosis of PFIC-3. This case highlights how chronic cholestatic liver disease may masquerade as a primary hematologic disorder and emphasizes the importance of considering systemic causes in children presenting with anemia, hepatosplenomegaly, and bleeding manifestations. Early recognition of underlying liver disease is essential to facilitate appropriate multidisciplinary management and prevent potentially life-threatening complications. - Source: PubMed
Publication date: 2026/06/18
Alwadei Njood - Low-phospholipid-associated cholelithiasis (LPAC) syndrome is a rare -related cholestatic disorder characterized by recurrent biliary symptoms and intrahepatic lithiasis. A 55-year-old woman with recurrent intrahepatic hepatolithiasis underwent multiple endoscopic retrograde cholangiopancreatographies with lithotripsy and stenting without durable stone clearance, ultimately requiring right hepatic lobectomy. Postoperative genetic testing identified a heterozygous variant, confirming LPAC syndrome, and ursodeoxycholic acid therapy was initiated with subsequent clinical stability. This case highlights an atypical late-onset LPAC presentation and diagnostic challenges when imaging findings are subtle. LPAC should be considered in recurrent intrahepatic stones regardless of age. - Source: PubMed
Publication date: 2026/06/19
Al Zureikat QusaiGuarner-Argente CarlosKanth PriyankaAlmasarweh NadeenJha ReenaHaddad Nadim - The increasing availability and decreasing costs of DNA sequencing have resulted in the re-grouping of rare, severe paediatric cases of progressive familial intrahepatic cholestasis (PFIC) with more frequent, later-onset cases of cholestasis (eg, intrahepatic cholestasis of pregnancy, benign recurrent intrahepatic cholestasis, low phospholipid-associated cholelithiasis) under the umbrella of genetic cholestasis. The common denominator is the presence of functional variants in the PFIC-associated genes, predominantly in , and , which cause PFIC types 1-3. Several other congenital diseases such as Alagille syndrome and alpha1-antitrypsin deficiency comprise cholestatic pruritus as frequent symptoms.With the availability of intestinal bile acid transporter inhibitors (IBATi) as new and efficacious therapeutics for pruritus, the most debilitating symptom of PFIC, it is essential to envision their usefulness for patients with later-onset cholestatic liver disease suffering from pruritus.In this review, we summarise published studies on the genetic makeup of patients with paediatric, juvenile and adult-onset cholestasis, and discuss their findings with respect to genotype-specific treatment with IBATi, ursodeoxycholic acid, or alternative drugs. The aim is to provide an overview of the genetic variants likely to be encountered in future sequencing investigations of patients with cholestatic liver diseases, and how to translate this genetic information into personalised treatment recommendations. - Source: PubMed
Publication date: 2026/06/17
Liebe RomanLammert FrankSchmidt Hartmut HKrawczyk Marcin - Intrahepatic lithiasis (IHL), defined as the presence of calculi within the intrahepatic bile ducts proximal to the hepatic confluence, has traditionally been considered rare in Western populations. However, increasing evidence suggests that Low-Phospholipid-Associated-Cholelithiasis (LPAC) syndrome, which is a genetic cholangiopathy caused by ABCB4 variants affecting biliary phospholipid secretion, represents a frequently underrecognized cause of IHL.The imaging spectrum of IHL varies according to stone composition and underlying etiology. In Eastern populations, pigment stones associated with recurrent pyogenic cholangitis prevail, whereas in Western patients, cholesterol microlithiasis characteristic of LPAC syndrome is more common. Targeted hepatobiliary ultrasound remains the cornerstone diagnostic modality, capable of detecting findings that are frequently missed on routine examination. Computed tomography (CT) and magnetic resonancecholangiopancreatography (MRCP) provide complementary information regarding stone characterization, biliary anatomy, and complications.Accurate diagnosis requires familiarity with the major mimickers of IHL, including primary sclerosing cholangitis (PSC), Caroli disease, iatrogenicbiliary strictures, and recurrent pyogenic cholangitis, as well as recognition of imaging pitfalls such as pneumobilia and biliary hamartomas.Greater awareness of LPAC syndrome and careful analysis of biliary imaging patterns may enable radiologists to reframe intrahepatic lithiasisfrom an overlooked finding into a diagnosable and treatable condition. - Source: PubMed
Publication date: 2026/06/16
Linhares Cardoso Danielde Mello Ando SabrinaMartins Tavares Ralph Rodrigo Francisco - Cholestasis has diverse causes, with genetic factors playing a key role. Diagnosis is challenging due to varied presentations and overlapping genetic conditions. Next-generation sequencing cholestasis gene panels enable faster, more accurate identification of genetic causes. This study summarizes results from more than 10,000 tests, highlighting their clinical utility. - Source: PubMed
Publication date: 2026/05/18
Hoskins Brett JPramparo TizianoGough EthanPonte AmyDutta RanaKarnsakul Wikrom