Poor access to genetic testing may delay Alagille syndrome diagnosis
Difficulty accessing genetic testing in low- to middle-income countries may delay the diagnosis of Alagille syndrome in children and lead to misdiagnoses that may…
Andrea Lobo, PhD, Science Writer — 
Articles by Andrea Lobo
New TJP2 mutations detected in girl with mild PFIC4
A combination of two new mutations in the TJP2 gene was identified as the cause of a mild form of progressive familial intrahepatic cholestasis type 4 (PFIC4) in…
Sleep disorders common in PBC, linked to severe disease: Study
Sleep disorders affect about half of adults with primary biliary cholangitis (PBC), and are associated with more severe disease and worse outcomes, according to…
Early-onset pregnancy cholestasis increases risk of diabetes: Study
Women diagnosed with intrahepatic cholestasis of pregnancy (ICP) before 24 weeks of gestation, or about six months, are significantly more likely to develop gestational…
New NOTCH2 gene mutations identified as likely Alagille cause
Researchers in Italy have identified 10 new mutations in the NOTCH2 gene, which has been linked to Alagille syndrome, in nine children and one…
Seven new ABCB11 gene mutations identified as cause of PFIC2
Seven new ABCB11 gene mutations were identified as the likely cause of progressive familial intrahepatic cholestasis (PFIC2), according to a study that analyzed the…
Atypical biliary tract abnormalities found in Alagille syndrome baby
A six-month-old baby with Alagille syndrome showed atypical biliary tract abnormalities, including a narrower main bile duct and a gallbladder with a corkscrew-like shape,…
Blood biomarkers may aid newborn cholestasis diagnosis: Study
Measuring blood levels of bile acids, a component of bile, and the gamma-glutamyl transferase (GGT) enzyme may aid newborn cholestasis diagnosis by distinguishing between…
Dupilumab works as itching treatment in Alagille case: Report
The use of dupilumab, an approved anti-inflammatory antibody-based treatment, worked to ease itching, known medically as pruritus, in a young woman with Alagille syndrome…
Certain fatty molecules may help diagnose liver disease in pregnancy
Blood levels of certain fatty molecules, called short-chain fatty acids (SCFAs), in pregnant women may help diagnose intrahepatic cholestasis of pregnancy (ICP), according to…