Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal Failure
Table 2
MYH9 disorders; May-Hegglin syndrome, Sebastian syndrome, Epstein syndrome and Fechtner syndrome and clinical features. Clinical features of our cases and previous reported cases with the same mutations of the MYH9 gene in exon 24.
MYH9 disorders
Giant platelets
Granulocyte inclusion bodies
Nephritis
Sensorineural deafness
Cataract
May-Hegglin syndrome
+
+ (large)
-
-
-
Sebastian syndrome
+
+ (small)
-
-
-
Epstein syndrome
+
-
+
+
-
Fechtner syndrome
+
+
+
+
+
MYH9 gene mutations
Age and sex
Giant platelets and platelet count (reference range: 15.0-35.0×104/μL)