An alert was published during 1999 by the French Perinatal Cohort: eight cases of mitochondrial dysfunction were reported among 1754 infants exposed to nucleoside analogues in utero and during the neonatal period. These eight infants were not infected by HIV. Mitochondrial toxicity of nucleoside analogues is clearly described in adult HIV patients receiving NRTI. Zidovudine (the only and the first NRTI studied) induced mitochondrial DNA dysfunction in animals (monkeys) and neurobehavourial effects in mice at a dose similar to the human dose. Practitioners have been informed. Retrospective and prospective studies are in progress. The recommendations for prevention of maternofoetal transmission of HIV are not reassessed. Pregnant women in rich countries are receiving combination antiretroviral therapy. Information of women has to be undertaken and therapeutic strategies for maternal indication have to be discussed case by case. Careful long term follow up of children exposed to antiretroviral agents is a priority.

Adult↗

PubMedDate not supplied

[Hereditary hypogranular thrombocytopathic thrombocytopenia. Ultrastructural study of a megakaryocytopathy (author's transl)].

The ultrastructure of megakaryocytes and blood platelets has been studied in 3 members of a Swiss family, in which a haemorrhagic diathesis of varying degree occurred in at least three generations. Blood platelets show an extremely low number of dense granules, slightly increased mean diameter and irregular distribution of glycogen in unusually large clusters. The number of megakaryocytes in bone marrow is normal. Electron microscopy shows asynchronous development of their structural components: a severe defect in maturation of specific granules is followed by retardation and irregularity in the demarcation of the "platelet prospective fields", Golgi membranes have few vesicles, glycogen occurs partly in huge clusters and megakaryocytes with mature platelet fields are very rare. The ultrastructural picture of platelet formation in megakaryocytes indicates that this haemorrhagic syndrome may be understood as a megakaryocytopathy. The results of functional and biochemical analyses performed on blood platelets show a defect in both phases of aggregation and in PF 3 availability, normal survival, decreased total sialic acid content, and absence of the heaviest platelet population ("D") isolated by discontinuous sucrose gradient. The autosomal dominant transmission of this together with its concomitance with blood group O suggest its relationship with the familial thrombopathic thrombocytopenia described in 1968 by Kurstjens and al. in a Dutch family [13].

Blood Platelet Disorders↗