罕見遺傳性血栓性血小板減少性紫斑症案例

Congenital Thrombotic Thrombocytopenic Purpura in a Pediatric Patient and Family: A Case Study

本案例研究探討了一名8歲男童的遺傳性血栓性血小板減少性紫癜(cTTP)。患者表現出高血壓、頭暈、頭痛和泡沫尿。實驗室檢查顯示嚴重的血小板減少症、溶血性貧血和顯著的蛋白尿。使用TECHNOZYM®ADAMTS-13 Activity試劑以ELISA方法檢測結果顯示其ADAMTS-13活性顯著降低。次世代定序確認了患者ADAMTS-13基因的複合異質突變，後續分子生物檢測，結果顯示其哥哥與病患有相同之ADAMTS-13突變位點，且遺傳父親與母親各一個突變點。這些發現以及影像學證據顯示腎臟和神經系統受損，確診為cTTP。輸注新鮮冷凍血漿能有效緩解急性症狀並作為預防策略。早期診斷和後續對病情監測及管理對於預防嚴重併發症和優化長期預後至關重要。

This case study investigates Congenital thrombotic thrombocytopenic purpura (cTTP) in an 8-year-old male patient. The patient presented with hypertension, dizziness, headache, and foamy urine. Laboratory evaluations revealed severe thrombocytopenia, hemolytic anemia, and significant proteinuria. ADAMTS-13 activity, measured by the TECHNOZYM®ADAMTS-13 Activity ELISA Kit, was profoundly reduced. Next-generation sequencing confirmed compound heterozygous mutations in the ADAMTS-13 gene. These findings, along with imaging evidence of renal and neurological involvement, solidified the diagnosis of cTTP. Management with fresh frozen plasma effectively addressed acute symptoms and served as a preventive strategy. Early diagnosis and tailored management are essential to prevent severe complications and optimize long-term prognosis.