Medicine:Fechtner syndrome
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| Fechtner syndrome | |
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| Other names | Alport syndrome with leukocyte inclusions and macrothrombocytopenia |
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| Fechtner syndrome is inherited in an autosomal dominant manner. | |
Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions, macrothrombocytopenia,[1]thrombocytopenia, nephritis, and sensorineural hearing loss.[2] Some patients may also develop cataracts.[3]
References
- ↑ Peterson, LoAnn C.; Rao, K. Venkateswara; Crosson, John T.; White, James G. (1 February 1985). "Fechtner Syndrome—A Variant of Alport's Syndrome With Leukocyte Inclusions and Macrothrombocytopenia". Blood 65 (2): 397–406. doi:10.1182/blood.v65.2.397.397. PMID 2981587.
- ↑ Toriello, Helga V.; Smith, Shelley D. (2013). Hereditary Hearing Loss and Its Syndromes. Oxford University Press USA. pp. 127. ISBN 9780199731961.
- ↑ Avner, Ellis D.; Harmon, William E.; Niaudet, Patrick; Yoshikawa, Norishige; Emma, Francesco; Goldstein, Stuart L. (2016). Pediatric Nephrology. Springer-Verlag Berlin Heidelberg. pp. 632. ISBN 978-3-662-43595-3.
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