Junction: Hepatology

Alagille Syndrome May Alter the Microvasculature

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…

Case Report: A Rare Co-occurrence of ALGS and Von Willebrand Disease

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,…

Common Genetic Variant May Cause Form of LAL-D

A “mild” form of lysosomal acid lipase deficiency (LAL-D) may exist and could play a role in the pathogenesis of nonalcoholic fatty liver disease (NAFLD), according to a new study published in the journal Pharmacology Research and Perspective. This “mild” form may be associated with the single nucleotide polymorphism (SNP) rs1051338 in the lysosomal acid…

Treat Rare Diseases With the Same Urgency as COVID, Expert Panel Urges

The US public health system should prioritize rare diseases in the same way it has with COVID-19, said Christopher Austin, MD, founding director of the National Center for Advancing Translational Science (NCATS), a division of the National Institutes of Health (NIH). He said that as director of NCATS when the pandemic hit in early 2020,…

Splicing Mutations as Potential Diagnostic Targets for ALGS

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…

Researchers Identify New Source of Intrahepatic Duct Cells

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 OCT Useful in Alagille Syndrome

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…

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An Update on LAL-D With Dr. Paul Martin of Nationwide Children’s Hospital

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul T. Martin, PhD, principal investigator at the Center for Gene Therapy at Nationwide Children’s Hospital in Columbus, Ohio. Dr. Martin has been at the forefront of research into potential gene therapies for lysosomal acid lipase deficiency, or LAL-D. Read the full article: Gene Therapy May…

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