Fechtner syndrome

Genetics

• autosomal dominant
• associated with defects in MYH9

Clinical manifestations

• sensorineural deafness
• cataracts
• nephritis

Laboratory

• complete blood count: thrombocytopenia
• peripheral blood smear:
  • giant platelets
  • neutrophil & eosinophil cytoplasmic inclusions similar in appearance to Dohle bodies but ultrastructurally different
• urinalysis: hematuria

More general terms

• genetic disease of the kidney
• genetic disease of the blood/bone marrow

Database

• OMIM: https://mirror.omim.org/entry/153640