Fechtner syndrome
| Fechtner syndrome | |
|---|---|
| Other names | Alport syndrome with leukocyte inclusions and macrothrombocytopenia |
 | |
| 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. p. 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. p. 632. ISBN 978-3-662-43595-3.