The diversity of the gut microbiota is reduced in Wilson disease, found a new study conducted in a mouse model of the disease. Moreover, the function of amino acid, carbohydrate, and lipid metabolisms are also dysregulated as are tri- and diglyceride, phospholipid, and sphingolipid metabolisms. Based on these findings, the study authors said that Wilson…
An upcoming study will assess the benefit of continued treatment with ALCN1840 in patients with Wilson disease (WD). Researchers have initiated an expanded access study for patients with WD that could receive a treatment scheme with a novel drug named ALXN1840. The intended sample of this clinical trial is cataloged as an intermediate-size population. This…
A specific pathway between the lenticular nucleus and the cerebellum might play a key role in the pathogenesis of Wilson’s disease (WD), according to a study recently published in Brain Sciences. “Together, these findings highlight that lenticular nucleus–cerebellum circuits may serve as neural biomarkers of dystonia and provide implications for the neural mechanisms underlying dystonia…
Liver transplantation was successfully performed in a pediatric patient with Alagille syndrome (ALGS) and a concomitant severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, according to a case report recently published in Hepatology Research. The patient, a 3-year-old girl with liver cirrhosis, was admitted to a hospital for deceased-donor liver transplantation. As the patient’s liver…
Stomach viruses can become challenging for those with rare diseases such as Alagille syndrome (ALGS).
Which of the statements below about the prognosis of cholangiocarcinoma (CCA) are correct? Select one of the options for each question, then submit your answers to see your score and the average score for everyone who has taken the quiz. Read more about CCA prognosis.
Enzyme therapy for lysosomal storage diseases has evolved recently; however, current enzyme therapies have limitations.
Researchers discovered that the PiZ variant in alpha-1 antitrypsin deficiency (AATD) is significantly higher in patients with bronchiectasis compared to the general population, according to a study published in Archivo de Bronconeumologia. Studies indicate that AATD is a potentially treatable cause of bronchiectasis. In terms of genetic prevalence, the PiZ variant is the most common…
A systematic review of the literature published in the journal Cureus found that there are only 19 case reports about the anesthetic management of patients with Wilson disease for surgeries other than a liver transplant. “The paucity of scientific data in this regard is concerning,” the authors of the review said and suggested that an…
Which of the statements below about the epidemiology of Wilson disease (WD) are correct? Select one of the options for each question, then submit your answers to see your score and the average score for everyone who has taken the quiz. Read more about Wilson disease epidemiology.
