Fechtner Syndrome (Macrothrombocytopathy, Nephritis, Deafness, and
Leukocyte Inclusion Syndrome; Alport Syndrome with Leukocyte Inclusions and
Macrothrombocytopenia): The name of this autosomal dominant transmitted
syndrome is derived from the surname of the family first described with this
disorder. Like May-Hegglin anomaly and Sebastian syndrome, the defect of
this syndrome is located on the long arm of chromosome 22 (22q11.2).
Clinically, it is characterized by a combination of nephritis (with symptoms
ranging from microhematuria to end-stage renal failure), high-frequency
sensorineural deafness, congenital cataracts, macrothrombocytopenia, and
inclusion bodies in neutrophils and eosinophils. Although the aspect of the
inclusion bodies under the light microscope is similar to the inclusion
bodies seen in May-Hegglin Anomaly, ultrastructurally they are different.
The abnormal size of the platelets seems to be a result of an abnormality in
the cytoskeleton of megakaryocytes interfering with the demarcation membrane
system and the normal expulsion of platelets.