Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease: a case report and literature review.
- Author:
Rui HU
1
;
Ji-hong HAO
;
Hong-le YANG
;
Yun ZHU
;
Shun-yi LI
;
Jie ZHAO
;
Feng-ru LIN
;
Zhi-yun NIU
Author Information
- Publication Type:Case Reports
- MeSH: Hearing Loss, Sensorineural; etiology; genetics; Humans; Male; Middle Aged; Molecular Motor Proteins; genetics; Mutation; Myosin Heavy Chains; genetics; Nephritis, Hereditary; etiology; genetics; Thrombocytopenia; etiology; genetics
- From: Chinese Journal of Hematology 2011;32(2):103-106
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo improve the recognition of Fechtner syndrome.
METHODSThe clinical and laboratory data and family survey of a patient with Fechtner's syndrom was reported.
RESULTS AND CONCLUSIONGiant platelets, thrombocytopenia and characteristic granulocyte inclusion bodies (Döhle-like bodies) were found in both peripheral blood and bone marrow smears of the patient. Clinically the patient had renal damage, nervous deafness, and vitreous lesions. There was a family genetic tendency on family survey the diagnosis of Fechtner syndrome is established.
