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Background: Alagille syndrome (ALGS) is a multisystem cholestatic disorder. Maralixibat is approved for the treatment of cholestatic pruritus in ALGS with limited data in adults.

Methods: Participants were included if they received ≥ 2 doses of maralixibat at age ≥ 16 years in one of the three previously published maralixibat ALGS clinical trials.

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Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.

Transl Pediatr

December 2024

Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.

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Objective: To present the imaging features of Caroli's disease (CD) on prenatal ultrasound and magnetic resonance imaging (MRI).

Methods: This was a retrospective case series of prenatally diagnosed CD between 2017 and 2024. Clinical data from these cases were collected and reviewed.

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Background And Objective: To determine whether there is disproportionate reporting of hepatobiliary disorders in the United States (US) FDA Adverse Event Reporting System (FAERS) for individuals prescribed ketamine or esketamine.

Design: We identified Medical Dictionary for Regulatory Activities (MedDRA) terms in the FAERS related to hepatobiliary disorders.

Main Measures: Formulations of ketamine and esketamine were evaluated for the proportionality of reporting for each hepatobiliary disorder parameter using the reporting odds ratio (ROR).

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We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.

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