Polycystic Kidneys and GM2 Gangliosidosis-Like Disease in Neonatal Springboks (Antidorcas marsupialis)

• Published in: Veterinary pathology Vol. 52; no. 3; pp. 543 - 552
• Main Authors: Herder, V., Kummrow, M., Leeb, T., Sewell, A. C., Hansmann, F., Lehmbecker, A., Wohlsein, P., Baumgärtner, W.
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01.05.2015
• Subjects: Animals; Animals, Newborn; Animals, Zoo; Antelopes; Cytoplasmic Granules - pathology; Cytoplasmic Granules - ultrastructure; Female; Gangliosidoses, GM2 - genetics; Gangliosidoses, GM2 - pathology; Gangliosidoses, GM2 - veterinary; Kidney - enzymology; Kidney - pathology; Kidney - ultrastructure; Liver - enzymology; Liver - pathology; Lysosomes - enzymology; Male; Microscopy, Electron, Transmission - veterinary; Pedigree; Polycystic Kidney Diseases - genetics; Polycystic Kidney Diseases - pathology; Polycystic Kidney Diseases - veterinary; Thyroid Gland - pathology; GM2 gangliosidosis; springbok; storage disease; polycystic kidney disease; hexosaminidase; autosomal-recessive; Antidorcas marsupialis; neurons
• ISSN: 0300-9858; 1544-2217
• DOI: 10.1177/0300985814549210

Clinical, gross, histopathologic, electron microscopic findings and enzymatic analysis of 4 captive, juvenile springboks (Antidorcas marsupialis) showing both polycystic kidneys and a storage disease are described. Springbok offspring (4 of 34; 12%) were affected by either one or both disorders in a German zoo within a period of 5 years (2008–2013). Macroscopic findings included bilaterally severely enlarged kidneys displaying numerous cysts in 4 animals and superior brachygnathism in 2 animals. Histopathologically, kidneys of 4 animals displayed cystic dilation of the renal tubules. In addition, abundant cytoplasmic vacuoles with a diameter ranging from 2 to 10 μm in neurons of the central and peripheral nervous system, hepatocytes, thyroid follicular epithelial cells, pancreatic islets of Langerhans and renal tubular cells were found in 2 springbok neonates indicative of an additional storage disease. Ultrastructurally, round electron-lucent vacuoles, up to 4 μm in diameter, were present in neurons. Enzymatic analysis of liver and kidney tissue of 1 affected springbok revealed a reduced activity of total hexosaminidase (Hex) with relatively increased HexA activity at the same level of total Hex, suggesting a hexosaminidase defect. Pedigree analysis suggested a monogenic autosomal recessive inheritance for both diseases. In summary, related springboks showed 2 different changes resembling both polycystic kidney and a GM2 gangliosidosis similar to the human Sandhoff disease. Whether the simultaneous occurrence of these 2 entities represents an incidental finding or has a genetic link needs to be investigated in future studies.