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Korean Journal of Medicine ; : 546-551, 2017.
Artigo em Coreano | WPRIM | ID: wpr-103595

RESUMO

A 37-year-old female presented to our hospital with a history of bleeding episodes (excessive bleeding after tooth extraction, gum bleeding, easy bruising, and excessive menstruation) and severe thrombocytopenia (2,000/µL). She had no family history of bleeding tendency or thrombocytopenia. No peripheral lymphadenopathy or splenomegaly was noted. The patient's white blood cell count was normal; hemoglobin was 9.7 g/dL. A peripheral blood smear showed markedly decreased platelets, with occasional giant or large platelets. Bone marrow examination found increased megakaryocytes. The patient also complained of hearing difficulty; a hearing test indicated sensory-neural hearing impairment. Her thrombocytopenia was refractory to treatment with glucocorticosteroids, intravenous gamma-globulin, and danazol. In the 13 years following her initial presentation, the patient required anti-hypertensive treatment, a hearing-aid for progressive hearing loss, and started maintenance kidney dialysis. Her clinical history of refractory thrombocytopenia, progressive hearing impairment, and renal failure suggested myosin heavy chain 9 gene-related congenital syndrome (Epstein syndrome), which was confirmed by the presence of a heterozygous deletion mutation, c.221_223del, (p.Lys74del) in peripheral leukocyte deoxyribonucleic acid.


Assuntos
Adulto , Feminino , Humanos , Exame de Medula Óssea , Danazol , Diálise , DNA , gama-Globulinas , Gengiva , Audição , Perda Auditiva , Perda Auditiva Neurossensorial , Testes Auditivos , Hemorragia , Rim , Contagem de Leucócitos , Leucócitos , Doenças Linfáticas , Megacariócitos , Cadeias Pesadas de Miosina , Insuficiência Renal , Insuficiência Renal Crônica , Deleção de Sequência , Esplenomegalia , Trombocitopenia , Extração Dentária
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