Frontiers in pediatrics
Case Report: Early-onset portal hypertension revealing pediatric ADPKD with a truncating PKD1 variant
Von Minota Idarraga AK und Llanos Arango IM.
Inhalt auf Englisch
Abstract
Background
Autosomal dominant polycystic kidney disease (ADPKD) is a multisystemic ciliopathy whose clinical spectrum extends into childhood. Although hepatic cysts are the most common extrarenal manifestation, early portal hypertension associated with congenital hepatic fibrosis (CHF)-like features is uncommon and likely underrecognized.
Case presentation
We report a 10-year-old girl with no known family history of ADPKD who presented at 9 years of age with upper gastrointestinal bleeding secondary to grade III esophageal varices. The diagnostic evaluation established non-cirrhotic portal hypertension, and she underwent endoscopic variceal ligation followed by secondary prophylaxis with propranolol. Imaging demonstrated hepatosplenomegaly, patent portal and splenic veins, and no hepatic cysts. Liver biopsy showed mild portal fibrosis (METAVIR F1), while liver stiffness measured 6.4 kPa, consistent with mild fibrosis. Renal imaging revealed multiple bilateral cortical cysts, and whole-exome sequencing identified a heterozygous truncating PKD1 variant (p.Glu1633Ter), classified as pathogenic according to ACMG criteria. The patient remains clinically stable without recurrent bleeding during multidisciplinary follow-up.