Case Report: Budd–Chiari-like syndrome in a cat with polycystic kidney and liver disease

A 9-year-old spayed female Persian Chinchilla cat presented with progressive lethargy and acute right hindlimb pain and lameness. Diagnostic imaging revealed diffuse renal and hepatic cysts, resulting in marked hepatomegaly. Computed tomography (CT) further identified a localized narrowing of the intrahepatic caudal vena cava (CVC), likely due to extrinsic compression by the enlarged liver. Laboratory tests revealed moderate anemia, leukocytosis, hypoalbuminemia, and a hypercoagulable state with markedly elevated serum amyloid A levels. Based on these findings, the cat was diagnosed with polycystic kidney and liver disease (PKD/PLD), complicated by Budd-Chiari-like syndrome (BCLS), a rare hemodynamic disorder in felines. Despite supportive care, the patient succumbed to renal failure within 7 weeks. Whole-genome sequencing identified a heterozygous known pathogenic non-sense mutation in <i>PKD1</i> (XM_023247051.2:c.9864C > A), a novel frameshift mutation in <i>GANAB</i>, and multiple missense variants in <i>PKD1</i> and <i>PKHD1</i>. To the best of our knowledge, this is the first reported case of feline BCLS secondary to PLD-induced CVC compression. These findings underscore the importance of considering vascular complications in advanced PKD/PLD and suggest that multigenic variation may contribute to disease severity and clinical variability.

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Journal
Frontiers in Veterinary Science
Published
2026-01-26
DOI
https://doi.org/10.3389/fvets.2025.1701832
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
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article

Case Report: Budd–Chiari-like syndrome in a cat with polycystic kidney and liver disease

E.E. Lee, JW Han, Jae Hwan Kim, Yong Bum Jang et al.
Frontiers in Veterinary Science
Genetic and Kidney Cyst Diseases
article

Case Report: Budd–Chiari-like syndrome in a cat with polycystic kidney and liver disease

E.E. Lee, JW Han, Jae Hwan Kim, Yong Bum Jang, Jae-Eun Hyun, Tae-Rin Kim
article en

Abstract

A 9-year-old spayed female Persian Chinchilla cat presented with progressive lethargy and acute right hindlimb pain and lameness. Diagnostic imaging revealed diffuse renal and hepatic cysts, resulting in marked hepatomegaly. Computed tomography (CT) further identified a localized narrowing of the intrahepatic caudal vena cava (CVC), likely due to extrinsic compression by the enlarged liver. Laboratory tests revealed moderate anemia, leukocytosis, hypoalbuminemia, and a hypercoagulable state with markedly elevated serum amyloid A levels. Based on these findings, the cat was diagnosed with polycystic kidney and liver disease (PKD/PLD), complicated by Budd-Chiari-like syndrome (BCLS), a rare hemodynamic disorder in felines. Despite supportive care, the patient succumbed to renal failure within 7 weeks. Whole-genome sequencing identified a heterozygous known pathogenic non-sense mutation in <i>PKD1</i> (XM_023247051.2:c.9864C > A), a novel frameshift mutation in <i>GANAB</i>, and multiple missense variants in <i>PKD1</i> and <i>PKHD1</i>. To the best of our knowledge, this is the first reported case of feline BCLS secondary to PLD-induced CVC compression. These findings underscore the importance of considering vascular complications in advanced PKD/PLD and suggest that multigenic variation may contribute to disease severity and clinical variability.

Frontiers in Veterinary ScienceVol. 12
Konkuk University (KR), Konkuk University Medical Center (KR)
Good health and well-being
Openalex Percentile: Top 73%
Genetic and Kidney Cyst Diseases
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