[Diagnosis of Hermansky-Pudlak syndrome].
Deutsche medizinische Wochenschrift (1946)(2001)
摘要
The triad of tyrosinase-positive oculocutaneous albinism, abnormal thrombocytic delta-granules and ceroid deposition in the cells of the reticuloendothelial system or the bone-marrow is called Hermansky-Pudlak syndrome (after those who first reported it). There is as yet no causal treatment. But the patient was advised to use a nasal spray of desmopressin for spontaneous or difficult to stop bleedings after minor injuries. Desmopressin i. v. should be given prophylactically before any operation.
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关键词
hermansky-pudlak-syndroms
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