비유전성 엡스타인증후군 1예 – 불응성 혈소판감소증의 드문 원인
A Sporadic Case of Epstein Syndrome: A Rare Cause of Refractory Thrombocytopenia
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초록
MYH9-RD는 만성 면역혈소판감소자색반병으로 오진되는경우가 가장 많고 특히 본 환자와 같이 가족력이 없는 경우에 더욱 그렇다[4]. 만일 혈소판의 수가 감소되어 있으며 그크기가 크고 골수 검사에서 거대핵세포의 수가 정상이거나약간 증가되어 있고, 신기능 저하, 감각신경 난청이 동반되어 있는 경우 혹은 면역혈소판감소자색반병 치료에 반응이없을 때는 가족력이 없더라도 MYH9-RD를 의심해 보아야 한다. MYH9-RD로 진단된 경우 혈소판 수가 낮을지라도 생명을 위협하는 출혈은 적다는 것을 알고 혈소판감소증만으로시행하는 혈소판 수혈은 피하고, 철결핍 빈혈의 예방, 비스테로이드항염제 사용 제한, 고음의 큰 소리 제한, 단백뇨 발생시 레닌-안지오텐신 억제제 사용, 말기신장 질환으로 진행하였을 때 신장 이식, 청력 저하 시 인공와우 이식을 고려한다. 수술이나 시술은 혈소판 수를 증가시킨 후 시행할 수 있고 최근의 보고에 따르면 혈소판 수혈 이외에 술 전 20일 정도 엘트롬보팍 올라민을 사용하는 것도 고려 가능하다.
Abstract
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.
참고문헌 (10)
- Neunert C, "The American Society of Hematology 2011 evidence-based practice guideline for immune thrombocytopenia", Blood, 117, pp.4190~4207 (2011)
- Sarangi SN, "Bleeding disorders in congenital syndromes", Pediatrics, 139, pp.e20154360~ (2017)
- Epstein CJ, "Hereditary macrothrombocytopathia, nephritis and deafness", Am J Med, 52, pp.299~310 (1972)
- Althaus K, "MYH-9 related platelet disorders:strategies for management and diagnosis", Transfus Med Hemother, 37, pp.260~267 (2010)
- Singh N, "CKD in MYH9-related disorders", Am J Kidney Dis, 54, pp.732~740 (2009)
- Hashimoto J, "Successful kidney transplantation in Epstein syndrome with atiplatelet antibodies and donor-specific antibodies:a case report", Transplant Proc, 47, pp.2541~2543 (2015)
- Pecci A, "Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations", Blood, 116, pp.5832~5837 (2010)
- Pecci A, "Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation", Thromb Haemost, 107, pp.1188~1189 (2012)
- Han KH, "Renal manifestations of patients with MYH9-related disorders", Pediatr Nephrol, 26, pp.549~555 (2011)
- Makino S, "Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure", Pediatr Int, 57, pp.977~981 (2015)