title: Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis).
abstract: 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.
authors.affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany Center for Systems Neuroscience, Hannover, Germany.
authors.forename: V
authors.initials: V
authors.lastname: Herder
authors.affiliation: Erlebnis-Zoo Hannover, Hannover, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Kummrow
authors.affiliation: Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, Switzerland.
authors.forename: T
authors.initials: T
authors.lastname: Leeb
authors.affiliation: Department of Pediatrics, University Hospital Frankfurt, Frankfurt, Germany.
authors.forename: A C
authors.initials: AC
authors.lastname: Sewell
authors.affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany Center for Systems Neuroscience, Hannover, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Hansmann
authors.affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany Center for Systems Neuroscience, Hannover, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Lehmbecker
authors.affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Wohlsein
authors.affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany Center for Systems Neuroscience, Hannover, Germany wolfgang.baumgaertner@tiho-hannover.de.
authors.forename: W
authors.initials: W
authors.lastname: Baumgärtner
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D000836:Animals, Zoo; D000866:Antelopes; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D020143:Gangliosidoses, GM2 / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D007668:Kidney / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000662:veterinary; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D013961:Thyroid Gland / Q000473:pathology
keywords: Antidorcas marsupialis; GM2 gangliosidosis; autosomal-recessive; hexosaminidase; neurons; polycystic kidney disease; springbok; storage disease