Fechtner syndrome

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

  1. ↑ cause by mutation in the MYH9 gene on chromosome 22q11 AbstractThis study reports a family comprising four generations in whom nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions were observed in varying combinations in eight of 17 members. The family differs from others reported in that their hematologic abnormalities include not only macrothrombocytopenia, but also small, pale blue cytoplasmic inclusions in the neutrophils and eosinophils. Light microscopic appearance of the inclusions resembled that of toxic Döhle bodies and inclusions of May-Hegglin anomaly, but their ultrastructural appearance was unique. The inclusions consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum (RER). They lacked the parallel 10-nm filaments characteristic of May-Hegglin anomaly and the parallel strands of RER seen in toxic Döhle bodies. Platelets were large, but their light and ultrastructural appearance was not significantly different from normal platelets. Platelet aggregation in response to epinephrine, arachidonate, thrombin, adenosine diphosphate, collagen, and ristocetin was normal. Levels of nucleotides and serotonin were elevated in proportion to cell volume. The concentration of adenosine triphosphate secreted and the percentage of arachidonic acid converted to thromboxane B2 were proportional to cell number. Deafness was high-tone sensorineural. Renal disease ranged from Peterson LC, Rao KV, Crosson JT, White JG (February 1985). "Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia". Blood. 65 (2): 397–406. PMID 2981587. Retrieved 2013-05-19.
  2. ↑ Toriello, Helga V.; Smith, Shelley D. (2013). Hereditary Hearing Loss and Its Syndromes. Oxford University Press USA. p. 127. ISBN 9780199731961.
  3. ↑ 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.


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