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Abnormal platelet function in Chediak-Higashi syndrome.

G J Boxer·H Holmsen·L Robkin·N U Bang·L A Boxer·R L Baehner
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Abstract

Platelets in an infant with Chediak-Higashi (C-H) syndrome without bleeding manifestations and not in the accelerated phase showed abnormal function consistent with storage pool disorder as shown by abnormal aggregation, decreased storage capacity and release of [14C]5-HT, low endogenous 5-HT, reduced ATP and ADP with an increased ATP/ADP ratio, increased specific radioactivity of ADP after [14C]adenine labelling, decreased release of adenine nucleotides after stimulation, impaired secretion of acid hydrolases despite normal stores, and decreased calcium content. Incorporation of [14C]adenine into metabolic pool adenine nucleotides was normal. Nucleotide conversion to hypoxanthine in stimulated platelets was mildly impaired. Platelet cyclic-AMP (c-AMP) was initially elevated, but even when c-AMP returned to normal levels after ascorbate treatment, platelet function was not improved. Elevated intracellular c-AMP was not solely responsible for the abnormal platelet function.

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Adenosine DiphosphateAdenosine TriphosphateBlood PlateletsChediak-Higashi SyndromeCyclic AMPFemaleHumansHydrolasesInfantPlatelet AggregationSerotoninThrombinCase ReportsJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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G J Boxer, H Holmsen, L Robkin, N U Bang, L A Boxer, R L Baehner. 1977. Abnormal platelet function in Chediak-Higashi syndrome.. https://doi.org/10.1111/j.1365-2141.1977.tb00618.x

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