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: 15.0-35.0×10^4/μL)	Granulocyte inclusion bodies	Nephritis	Sensorineural deafness	Cataract
Case 1	56	＋	＋	＋	＋	＋
p.E1066_A1072dup	Male	(8.2×10^4/μ)
N. Pujol Moix et al. [12], De Rocco D et al. [13]	50	＋	＋	－	－	－
p.E1066_A1072dup	Female	(1.7–8.3×10^4/μ)
De Rocco D et al. [13]	23	＋	＋	－	－	＋
p.E1066_A1072dup	Male	(3.0–8.0×10^4/μ)
De Rocco D et al. [13]	25	＋	＋	－	－	－
p.E1066_A1072dup	Female	(3.0–8.0×10^4/μ)
Case 2	59	＋	＋	＋	－～±	＋
p.E1084del	Male	(8.7×10^4/μ)
Miyazaki et al. [14]	21	＋	＋	－	－	－
p.E1084del	Male	(8.5×10^4/μ)