title: Abernethy malformation type II with nephrotic syndrome and other multisystemic presentation: an illustrative case for understanding pathogenesis of extrahepatic complication of congenital portosystemic shunt.
abstract: Abernethy malformation, an extrahepatic congenital portosystemic shunt, is more often diagnosed based on associated cardiac or pulmonary malformation. Although predominately a pediatric diagnosis, "late diagnoses" in adulthood have been reported especially in type II malformations that involve only a partial shunt of portal circulation directly into the inferior vena cava. Aside from the cardiac-related presentation, Abernethy malformation is also associated with multiple liver nodules, either benign or malignant, and pulmonary hypertension. In this report, we present immunoglobulin A glomerulonephritis with nephrotic syndrome as a hitherto unrecognized manifestation of this malformation outside the pediatric population, in a patient who also had pulmonary hypertension and multiple liver tumors. We also propose a pathogenetic basis for this multisystemic presentation that includes release into the systemic circulation of unfiltered bacteria, vasoactive substances, and immunoglobulin A-antigen complexes.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: David F
authors.initials: DF
authors.lastname: Schaeffer
authors.forename: Simin
authors.initials: S
authors.lastname: Laiq
authors.forename: Hyun-Jung
authors.initials: HJ
authors.lastname: Jang
authors.forename: Rohan
authors.initials: R
authors.lastname: John
authors.forename: Oyedele A
authors.initials: OA
authors.lastname: Adeyi
mesh_terms: D000293:Adolescent; D017809:Fatal Outcome; D005260:Female; D005922:Glomerulonephritis, IGA / Q000150:complications*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications*; D008113:Liver Neoplasms / Q000150:complications*; D009404:Nephrotic Syndrome / Q000150:complications*; D011169:Portal Vein / Q000002:abnormalities*; D014682:Vena Cava, Inferior / Q000002:abnormalities*