Back to search

Article

Adult Congenital Hepatic Fibrosis and Autosomal Dominant Polycystic Kidney Disease with PAX2 and PKD1 Variants: A Case Report

2026-02-27

Abstract excerpt

<title>Abstract</title> <p> Purpose Congenital hepatic fibrosis (CHF) is a rare ductal plate malformation typically associated with autosomal recessive polycystic kidney disease. Its co-occurrence with autosomal dominant polycystic kidney disease (ADPKD) in adults is exceptionally rare and poses diagnostic challenges. This study reports a case of a 39-year-old female diagnosed with CHF and ADPKD and investigate...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
520e5842-c121-5181-aae5-0bdbf341a1fc
DOI
10.21203/rs.3.rs-8848403/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Adult Congenital Hepatic Fibrosis and Autosomal Dominant Polycystic Kidney Disease with PAX2 and PKD1 Variants: A Case ReportDOI 10.21203/rs.3.rs-8848403/v1
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.Semantic proximity
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.Semantic proximity
Hepatorenal fibrocystic diseases in children.Semantic proximity
Recent advances in the molecular diagnosis of polycystic kidney diseaseSemantic proximity
The spectrum of polycystic kidney disease in children.Semantic proximity
New Advances in Polycystic Liver Diseases.Semantic proximity
Polycystic disease of the liverSemantic proximity
Polycystic disease of the liverSemantic proximity
Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.Semantic proximity
Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases.Semantic proximity
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.Semantic proximity
Select a neighboring publication to make it the new centre.