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February 9, 2026Clinical Case Reports0 citationsOpen Access

Dual Monogenic Cystic Disease: Case of Polycystic Kidney and Liver Diseases

Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease

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Authors

ABAnna Katya BrossartNatera (United States)KCKathryn M. CurrySPSumit Punj

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Overview

Case report reveals dual monogenic drivers of cystic diseases in one individual, suggesting the need for comprehensive genetic testing.

Key Points

  • To report a unique case of dual monogenic conditions, ADPKD and ADPLD, in a single patient.
  • Case report of a 50-year-old woman diagnosed with ADPKD and hepatomegaly.
  • Examined family history of ADPKD.
  • Conducted genetic testing using a 385-gene NGS-based kidney disease panel.
  • Identified heterozygous pathogenic variants in PKD1 and PRKCSH genes.
  • Highlighted the presence of both ADPKD and ADPLD in the same individual.
  • Emphasized the importance of comprehensive genetic evaluation despite family history.
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Cite This Study

Brossart et al. (2026) studied this question.

synapsesocial.com/papers/69897a86f0ec2af6756e8b5bhttps://doi.org/10.1002/ccr3.71994
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