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Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease

机译：患有新综合征Macrothrobocytopenia的患者怀孕的管理，Diph1相关疾病

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The number of genes involved in the identification of macrothrombocytopenia (MTP) is growing but the clinical consequences for the affected patients are not well determined. Here, we report the management of the bleeding risk for a patient with the newly reported and rare DIAPH1-related disease during surgery for infertility and then during her subsequent pregnancy. The R1213* DIAPH1 variant responsible for a mild bleeding syndrome in six families was considered a potential risk factor for our patient. Preliminary laparoscopic surgery was followed by neosalpingostomy to open the obstructed fallopian tube that was followed by an ectopic pregnancy requiring further surgery, tranexamic acid was used on each occasion and no bleeding complications were observed. A second pregnancy proceeded to term; the mother's platelet count was controlled throughout the gestation period and remained close to her basal values. No bleeding occurred at delivery or during the postpartum period. In conclusion, with strict repeated assessments of blood parameters and maintenance of the platelet count, the bleeding risk in pregnancy in DIAPH1-related disease can be successfully controlled.
机译：参与鉴定巨血小板减少症（MTP）的基因数量正在增加，但对受影响患者的临床后果尚不确定。在这里，我们报告了一位患有新报告的罕见膈肌相关疾病的患者在不孕症手术期间以及随后怀孕期间的出血风险管理。在六个家庭中导致轻度出血综合征的R1213*1变体被认为是我们患者的潜在风险因素。初步腹腔镜手术后进行新输卵管造口术，以打开阻塞的输卵管，然后进行需要进一步手术的异位妊娠，每次均使用氨甲环酸，未观察到出血并发症。第二次怀孕持续到足月；母亲的血小板计数在整个妊娠期得到控制，并保持在接近其基础值的水平。分娩时或产后均未发生出血。总之，通过对血液参数的严格反复评估和血小板计数的维持，可以成功地控制膈肌相关疾病的妊娠出血风险。

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