• 대한유전성대사질환학회지
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• 제5권1호
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• pp.126-132
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• 2005

Glanzmann's thrombasthenia는 혈소판 표면의 fibrinogen과 von Willebrand factor(vWF)의 수용체인 당단백 ${\alpha}_{IIb}{\beta}_3$의 결함으로 인해 ristocetin을 제외한 모든 agonist들에 대해 응집 이상을 보여 혈소판 수와 형태는 정상이면서 심한 출혈 시간의 연장을 가져오는 상염색체 열성 유전 질환이다. 저자들은 II형 Glanzmann's thrombasthenia로 진단된 4세 여아에서 ${\beta}_3$ 유전자의 이상 중 보고되지 않은 부위의 이상을 최초로 밝혔기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Periodontal and Implant Science
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• 제27권3호
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• pp.597-602
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• 1997

Glanzmann's thrombasthenia is a Qualitative platelet disorder characterized by a deficiency in the platelet membrane glycoproteins IIb/IIIa. It belongs to a group of hereditary platelet disorders typified by normal platelet numbers and a prolonged bleeding time. The severity of bleeding does not correlate with the severity of the platelet glycoprotein IIb/IIIa a abnormality. The present case report describes the periodontal treatment of a patient with Glanzmann's thrombasthenia. A 30-year-old female with a history of Glanzmann's thrombasthenia was referred for gingival bleeding on tooth brushing and discomforts in #38 area. The periodontal finding revealed a diagnosis of localized slight adult periodontitis. Root planing and extraction of #38 was performed under 12 pack of platelets transfusion and digital compression was done for hemostasis. The gingival bleeding ceased within a day in maxilla and 2 days later in mandible. 42 pack of platelets was administered for 3 days of post-treatment and for iron-deficiency anemia 3 pack of RBCs was transfused 2 days later. 1 week later the inflammation in gingiva disappeared and gingival stippling appeared. The clinical result we got was good and in such a medically compromised patient it is an ability to maintain a proper oral hygiene that is essential both for oral and systemic health.

• Journal of Interdisciplinary Genomics
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• 제3권2호
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• pp.41-46
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• 2021

Inherited platelet function disorders (IPFDs) are a disease group of heterogeneous bleeding disorders associated with congenital defects of platelet functions. Normal platelets essential role for primary hemostasis by adhesion, activation, secretion of granules, aggregation, and procoagulant activity of platelets. The accurate diagnosis of IPFDs is challenging due to unavailability of important testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. Among several IPFDs, Glanzmann thrombasthenia (GT) is a most representative IPFD and is relatively frequently found compare to the other types of rarer IPFDs. GT is an autosomal recessive disorder caused by mutations of ITGA2B or ITGB3. There are quantitative or qualitative defects of the GPIIb/IIIa complex in platelet, which is the binding receptor for fibrinogen, von Willbrand factor, and fibronectin in GT patients. Therefore, patients with GT have normal platelet count and normal platelet morphology, but they have severely decreased platelet aggregation. Thus, GT patients have a very severe hemorrhagic phenotypes that begins at a very early age and persists throughout life. In this article, the general contents about platelet functions and respective IPFDs, the overall contents of GT, and the current status of genetic diagnosis of GT in Korea will be reviewed.

• 대한소아치과학회지
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• 제47권3호
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• pp.352-358
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• 2020

글란즈만 혈소판무력증(Glanzmann Thrombasthenia, GT)은 상염색체 열성 유전으로 나타나는 희귀한 선천성 질환으로 혈소판 기능에 이상이 있어 혈액 응고 장애를 보이며 대표적인 증상은 지혈이 잘 되지 않는 출혈이다. 1918년 소아과의사 글란즈만에 의해 처음보고 되었으며 글란즈만씨병(Glanzmann's disease)이라고도 불리 운다. GT는 남성과 여성에서 동등하게 나타나고, 중동, 인도 프랑스 등 근친결혼을 하는 곳에서 많이 발생하며, 대략 1,000,000명당 1명에서 발견된다. 우리나라에서는 2018년 질병관리본부 희귀질환과에 따르면 200여명의 환자가 보고되고 있다. 임상증상은 점상출혈, 반상출혈, 비 출혈, 치은 출혈 등이 관찰되고, 유치의 자발적 탈락에서도 수혈을 고려해야 할 정도의 출혈이 발생할 수 있다. 치료의 일반적인 목표는 출혈 예방과 지혈이다. 여러 가지 지혈을 위한 처치에도 출혈이 지속되면 혈소판 수혈을 해야 한다. 소아치과의사는 구강을 청결히 하여 치은염과 치아 우식증을 예방함으로써 치은 출혈을 최소화하고, 구강 위생과 규칙적인 치과 검진의 중요성을 주지시켜야 하며, 치과치료시 출혈에 대비한 치료계획의 수립 및 세심한 진료가 필요하다. GT를 동반한 만6세 여아로 치아우식증을 주소로 내원하여 아산화질소-산소를 이용한 흡입진정하에 레진수복을 시행하였으며 술 후 치료부위의 압박지혈이 필요하였다.

• Clinical and Experimental Pediatrics
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• 제63권3호
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.