ACACA komt in 11 bronnen samen met lever en galblaas voor

…ology, Professor of Internal Medicine, Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, Saint Louis University Liver Center, 3635 Vista Avenue at Grand Boulevard, St. Louis, MO 63110-0250. E-mail: baconbr@slu.edu; fax: 314-577-8125 . Potential conflict of interest:…

…ical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic insufficiency) and to an underdiagnosed liver involvement. Differently from HNF1A , the correlation between hepatocellular carcinoma (HCC) and germline HNF1B deficiency has been poorly evaluated.…

…irst case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver enzyme elevations, and a complex Müllerian anomaly requiring surgical correction. She has maintained excellent metabolic control on metformin alone,…

…lestasis was rapidly resolved with hormone therapy. Genetic analysis showed a de novo 17q chromosome deletion, including the HNF1β gene implicated in liver damage, and this was considered causative of the complex clinical phenotype. Our case highlights the relationship between congenital hypopituitarism…

…hepatic transcriptional regulators but has since been recognized as master coordinators of metabolic homeostasis across multiple organs including the liver, kidneys, and pancreas(16-18). As a key hub in the regulation of systemic lipid homeostasis, HNF-1 family exerts biological functions by coordinating…