Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal Failure

Abstract EN

As a MYH9 disorder, Fechtner syndrome is characterized by nephritis, giant platelets, granulocyte inclusion bodies (Döhle-like bodies), cataract, and sensorineural deafness.

Observation of peripheral blood smear for the presence of thrombocytopenia, giant platelets, and granulocyte inclusion bodies (Döhle-like bodies) is highly important for the early diagnosis of MYH9 disorders.

In our two cases, sequencing analysis of the MYH9 gene indicated mutations in exon 24.

Both cases were diagnosed as the MYH9 disorders Fechtner syndrome before end-stage renal failure on the basis of the observation of peripheral blood smear.