Case report: ZFYVE19 gene mutation is associated with familial cholestasis.

The etiology of cholestatic liver disease is complex, with clinical manifestations being nonspecific, and biochemical abnormalities mainly characterized by elevated alkaline phosphatase (ALP) and glutamyl transpeptidase (GGT). Due to the lack of specific symptoms and diverse causes, the diagnosis poses certain challenges. Here, we present a case of liver cirrhosis with predominant cholestatic features of unknown etiology.

Clinical features and long-term outcomes of patients with ZFYVE19 variants.

Background: ZFYVE19-associated progressive familial intrahepatic cholestasis is a rare ciliopathy, with limited information on its natural history.

Aims: Investigate long-term outcomes, especially after liver transplantation (LT), in ZFYVE19-deficient patients.

Methods: Medical data of 13 Chinese individuals genetically diagnosed with ZFYVE19 deficiency, including 4 unreported patients, were reviewed.