迟发性及妊娠诱发的先天性血栓性血小板减少性紫癜。
Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura.
作者信息
Falter T, Kremer Hovinga J A, Lackner K, Füllemann H-G, Lämmle B, Scharrer I
机构信息
Tanja Falter, Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, Langenbeckstraße 1, 55131 Mainz, Germany, Tel. +49/(0)61 31/17 32 63, E-mail:
出版信息
Hamostaseologie. 2014;34(3):244-8. doi: 10.5482/HAMO-14-03-0023. Epub 2014 Jul 4.
UNLABELLED
We report on our patient (case 2) who experienced a first acute episode of thrombotic thrombocytopenic purpura (TTP) at the age of 19 years during her first pregnancy in 1976 which ended in a spontaneous abortion in the 30th gestational week. Treatment with red blood cell concentrates was implemented and splenectomy was performed. After having suffered from several TTP episodes in 1977, possibly mitigated by acetylsalicylic acid therapy, an interruption and sterilization were performed in 1980 in her second pregnancy thereby avoiding another disease flare-up. Her elder sister (case 1) had been diagnosed with TTP in 1974, also during her first pregnancy. She died in 1977 during her second pregnancy from a second acute TTP episode.
DIAGNOSIS
In 2013 a severe ADAMTS13 deficiency of <10% without detectable ADAMTS13 inhibitor was repeatedly found. Investigation of the ADAMTS13 gene showed that the severe ADAMTS13 deficiency was caused by compound heterozygous ADAMTS13 mutations: a premature stop codon in exon 2 (p.Q44X), and a missense mutation in exon 24 (p.R1060W) associated with low but measurable ADAMTS13 activity.
CONCLUSION
Genetic analysis of the ADAMTS13 gene is important in TTP patients of all ages if an ADAMTS13 inhibitor has been excluded.
未标注
我们报告了我们的患者（病例2），她在1976年首次怀孕时，19岁时经历了血栓性血小板减少性紫癜（TTP）的首次急性发作，妊娠第30周时自然流产。实施了红细胞浓缩物治疗并进行了脾切除术。1977年经历了几次TTP发作，可能因阿司匹林治疗而有所缓解，1980年她第二次怀孕时进行了人工流产并绝育，从而避免了另一次疾病发作。她的姐姐（病例1）在1974年首次怀孕时也被诊断出患有TTP。她在1977年第二次怀孕期间死于第二次急性TTP发作。
诊断
2013年多次发现严重的ADAMTS13缺乏症，<10%，且未检测到ADAMTS13抑制剂。对ADAMTS13基因的研究表明，严重的ADAMTS13缺乏症是由复合杂合性ADAMTS13突变引起的：外显子2中的一个过早终止密码子（p.Q44X），以及外显子24中的一个错义突变（p.R1060W），与低但可测量的ADAMTS13活性相关。
结论
如果排除了ADAMTS13抑制剂，对所有年龄段的TTP患者进行ADAMTS13基因的遗传分析都很重要。
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