Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis)
| Autor: | Adrian C. Sewell, Tosso Leeb, Vanessa Herder, Peter Wohlsein, Annika Lehmbecker, Walter Baumgartner, Florian Hansmann, M. Kummrow |
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| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Pathology Thyroid Gland Biology Gangliosidosis Sandhoff disease Cytoplasmic Granules Kidney Antidorcas marsupialis Microscopy Electron Transmission Gangliosidoses GM2 Internal medicine biology.animal medicine Polycystic kidney disease Animals Hexosaminidase Polycystic Kidney Diseases General Veterinary Pancreatic islets Thyroid medicine.disease Pedigree medicine.anatomical_structure Endocrinology Animals Newborn Antelopes Liver Animals Zoo Female Enlarged kidney Lysosomes |
| Zdroj: | Veterinary pathology. 52(3) |
| ISSN: | 1544-2217 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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