Alagille syndrome may alter peritoneal microvasculature and cellular membranes, according to a case study published in the Portuguese Journal of Nephrology & Hypertension. This could explain why peritoneal ultrafiltration was not effective in the patient who underwent the procedure to treat her chronic kidney disease due to vascular renal hypoplasia and chronic and refractory right…
A 17-year-old Indian female presented with co-occurring Alagille syndrome (ALGS) and von Willebrand disease (vWD). The likelihood of having both genetic conditions is extremely low, according to a case report published in the South African Journal of Child Health. The patient was diagnosed with ALGS during infancy. The diagnosis was based on phenotypic criteria (ie,…
Alternative splicing has been implied in the development and progression of pediatric liver diseases such as Alagille syndrome (ALGS), according to a new review published in Frontiers in Molecular Biosciences. The current knowledge on ALGS etiology estimates that most patients (94%) have variants of the JAG1 gene. A smaller percentage (1%-2%) of patients present alterations…
Intrahepatic duct cells regenerate from multipotent progenitors that originate from stem cells just outside the liver, according to a new study published in the journal Hepatology. This finding could help researchers develop new treatments for Alagille syndrome, a disease caused by impaired Notch signaling. “We’ve been aware of the regenerative power of the liver for…
Ultra-widefield and anterior-segment optical coherence tomography (AS-OCT) imaging are both useful in assessing the ocular abnormalities in Alagille syndrome, according to a new case study published in the American Journal of Ophthalmology Case Reports. “The ocular abnormalities observed in the present case represent clinical features characteristic of Alagille syndrome,” wrote first author Nobuhiro Kato from…
A team of medical researchers described a rare case involving a young patient with Alagille syndrome (ALGS) who presented predominantly with cardiac abnormalities and a normal liver. This rare case presentation, published in Cureus, invites physicians to consider the role of multisystem management, monitoring, and family assessment in diagnosing rare disorders such as ALGS. The…
Patients with Alagille syndrome (ALGS) can present with a wide variety of craniospinal manifestations, which may influence prognosis. Although they are less well-known and prevalent than other clinical manifestations—such as cholestasis, cardiac defects, skeletal and ophthalmologic abnormalities, and characteristic facial features—healthcare providers should be aware of their existence, the authors of a new study wrote.…
The US Food and Drug Administration (FDA) has approved maralixibat (Livmarli™) as the first treatment for cholestatic pruritus in patients with Alagille syndrome (ALGS) who are aged 1 year or older, Mirum Pharmaceuticals, Inc. announced. It is now available for prescribing. Maralixibat, which is administered orally once-daily, is a minimally absorbed ileal bile acid transporter…
Intrahepatic duct cells regenerate upon resumption of Jagged/Notch signaling, a study using a zebrafish model of Alagille syndrome found. Based on this finding, the authors of the study postulated that if Jagged/Notch signaling is increased, using Notch agonists or gene therapy, for example, the regeneration of intrahepatic duct cells may be enhanced. This could be…
US researchers have suggested that liver diseases such as hepatitis and Alagille syndrome may be influenced by environmental factors, challenging the oft-made assumption that there is little to no link between liver disease and environmental components, according to a review published in Acta Pharmaceutica Sinica B. “Liver diseases are considered to predominantly possess an inherited…
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