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Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease

Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease ILLUSTRATED FORENSIC PATHOLOGY Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease John C. Walsh, MD,* Lynn M. Messersmith, DO,† Jesse Fitzgerald, DO,‡ and Mauricio J. De Castro, MD§ Key Words: polycystic kidney disease, variant of uncertain significance, enlarged and diffusely cystic kidneys (Fig. 1). The right and left PKD1, autosomal dominant polycystic kidney disease, forensic pathology kidneys weighed 190 and 360 g, respectively. The renal cysts were innumerable, predominantly unilocular, ranging in size (Am J Forensic Med Pathol 2023;44: e4–e7) from 0.5 to 4.0 cm. The cysts had thin, smooth walls, contain- ing clear to dark brown cyst fluid. Histologic evaluation of the 23-year-old American Indian man was found unconscious renal parenchyma demonstrated normal glomeruli and tubules, A with a gunshot wound to the head. A forensic autopsy was disrupted by cuboidal lined simple cysts, chronic inflamma- performed, and evaluation of the internal organs revealed grossly tion, and fibrosis (Figs. 2, 3). The liver and heart were grossly FIGURE 1. Enlarged kidneys with diffuse cysts. Manuscript received June 16, 2022; accepted July 19, 2022. unremarkable. Intracranial vasculature showed no evidence From the *Forensic Pathology Investigations, Armed Forces Medical Examiner of berry aneurysm. Postmortem vitreous http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Forensic Medicine & Pathology Wolters Kluwer Health

Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease

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Publisher
Wolters Kluwer Health
Copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0195-7910
eISSN
1533-404X
DOI
10.1097/paf.0000000000000795
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Abstract

ILLUSTRATED FORENSIC PATHOLOGY Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease John C. Walsh, MD,* Lynn M. Messersmith, DO,† Jesse Fitzgerald, DO,‡ and Mauricio J. De Castro, MD§ Key Words: polycystic kidney disease, variant of uncertain significance, enlarged and diffusely cystic kidneys (Fig. 1). The right and left PKD1, autosomal dominant polycystic kidney disease, forensic pathology kidneys weighed 190 and 360 g, respectively. The renal cysts were innumerable, predominantly unilocular, ranging in size (Am J Forensic Med Pathol 2023;44: e4–e7) from 0.5 to 4.0 cm. The cysts had thin, smooth walls, contain- ing clear to dark brown cyst fluid. Histologic evaluation of the 23-year-old American Indian man was found unconscious renal parenchyma demonstrated normal glomeruli and tubules, A with a gunshot wound to the head. A forensic autopsy was disrupted by cuboidal lined simple cysts, chronic inflamma- performed, and evaluation of the internal organs revealed grossly tion, and fibrosis (Figs. 2, 3). The liver and heart were grossly FIGURE 1. Enlarged kidneys with diffuse cysts. Manuscript received June 16, 2022; accepted July 19, 2022. unremarkable. Intracranial vasculature showed no evidence From the *Forensic Pathology Investigations, Armed Forces Medical Examiner of berry aneurysm. Postmortem vitreous

Journal

American Journal of Forensic Medicine & Pathology – Wolters Kluwer Health

Published: Mar 10, 2023

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