ArticleClinical case reports2026
Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease.
Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease.Clinical case reports · 2026Article
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5 authors.
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Abstract
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD) are inherited cystic conditions with overlapping features but distinct genetic causes and clinical courses. Here, we report a case of a 50-year-old woman with a clinical diagnosis of ADPKD, hypertension, preserved kidney function, significant abdominal distention consistent with hepatomegaly, and innumerable kidney and hepatic cysts. Family history was remarkable for ADPKD clinical diagnosis in the patient's mother, maternal grandmother, and the grandmother's siblings. Genetic testing with a 385-gene NGS-based kidney disease panel (the Renasight test) identified heterozygous truncating pathogenic variants in
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