Kongalappa Smitha, Reddy Jyothi Muni, Durugappa Tarangini, D'Souza Fulton, Subramanian Sitalakshmi, Prakash Anand
Departments of Paediatrics.
Transfusion Medicine and Immunohematology, St John's Medical College Hospital, Bangalore, India.
J Pediatr Hematol Oncol. 2019 Mar;41(2):e68-e71. doi: 10.1097/MPH.0000000000001367.
Glanzmann thrombasthenia (GT) is a globally rare inherited disorder of hemostasis.
To describe the clinical profile of GT in a tertiary care center in Southern India.
A retrospective chart review of all children with GT was performed between January 2005 and August 2017 in the Department of Paediatrics.
A total of 48 patients (representing 43 families) were included. Median age at diagnosis was 2.75 years (interquartile range: 1.5 to 6.75). Two thirds had an onset of bleeding within the first 2 years of life. Sixty-seven percent were born out of consanguineous marriage. The common symptoms were epistaxis, gingival bleeding, and ecchymoses. Neonatal onset of bleeding manifested as purpura, epistaxis, and intracranial hemorrhage. Postsurgical bleeding and menorrhagia were unique presentations in adolescence. About 25% had life-threatening hemorrhage while 50% had growth retardation due to chronic anemia.
GT is relatively more common in areas of Southern India due to the higher prevalence of consanguinity. Chronic anemia can contribute to growth stunting in these patients.
Glanzmann血小板无力症(GT)是一种全球罕见的遗传性止血障碍疾病。
描述印度南部一家三级医疗中心GT的临床特征。
对2005年1月至2017年8月期间儿科所有GT患儿进行回顾性病历审查。
共纳入48例患者(代表43个家庭)。诊断时的中位年龄为2.75岁(四分位间距:1.5至6.75)。三分之二的患者在出生后2年内出现出血症状。67%的患者出生于近亲结婚家庭。常见症状为鼻出血、牙龈出血和瘀斑。新生儿出血表现为紫癜、鼻出血和颅内出血。术后出血和月经过多是青春期特有的表现。约25%的患者有危及生命的出血,50%的患者因慢性贫血出现生长发育迟缓。
由于近亲结婚的患病率较高,GT在印度南部地区相对更为常见。慢性贫血可导致这些患者生长发育迟缓。