Variable response of Hermansky–Pudlak syndrome to prophylactic administration of 1-desamino 8d-arginine in subsequent pregnancies

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• 作者：Zatik ; Já ; nos ; Pó ; ka ; Ró ; bert ; Borsos ; Antal ; Pfliegler ; Gyö ; rgy
• 关键词：Hermansky&ndash ; Pudlak syndrome ; Haemorrhagic diathesis ; Pregnancy ; Prophylaxis
• 刊名：European Journal of Obstetrics and Gynecology and Reproductive Biology
• 出版年：2002
• 出版时间：September 10, 2002
• 年：2002
• 卷：104
• 期：2
• 页码：165-166
• 全文大小：52.5 K

文摘

Hermansky-Pudlak syndrome is characterised by oculocutaneous albinism and haemorrhagic diathesis. The bleeding tendency that is associated with this autosomal recessive disease is caused by storage-pool deficiency and has been reported to be controllable by prophylactic administration of 1-desamino 8D-arginine (desmopressin, DDAVP). The DDAVP prophylaxis at the first delivery of our patient did not prevent the severe haemorrhagic sequeal requiring transfusion of packed red cells and platelets, but the same preventive measure was successful at her second childbirth. Response to prophylactic DDAVP administration varies between as well as within patients with Hermansky-Pudlak syndrome.