Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2011
[Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease: a case report and literature review].
Клинический случайАннотация на английскомСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Hu Rui, Hao Ji-hong, Yang Hong-le, Zhu Yun, Li Shun-yi, Zhao Jie, Lin Feng-ru, Niu Zhi-yun
Аннотация
OBJECTIVE: To improve the recognition of Fechtner syndrome.
METHODS: The clinical and laboratory data and family survey of a patient with Fechtner's syndrom was reported.
RESULTS AND CONCLUSION: Giant 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.
METHODS: The clinical and laboratory data and family survey of a patient with Fechtner's syndrom was reported.
RESULTS AND CONCLUSION: Giant 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.