title: [Congenital deficiency of platelet alpha-granules and medullary reticulinic fibrosis. Physiopathogenic hypothesis (author's transl)].
abstract: Hematological investigations of two propositus from a family with congenital thrombopathia characterised by a moderate thrombopenia and a specific platelet alpha granule deficiency revealed that the thrombopathia was associated with a constitutive reticulinic myelofibrosis, without any sign of evolutivity. This association led us to present an hypothesis to explain the genesis of this myelofibrosis. This hypothesis is based on the potential role of a mitogenic factor(s) synthetized in megakaryocytes and transported normally by platelets in alpha granules, to induce fibroblastic proliferation and increased synthesis of collagen type III by bone marrow. This myelofibrosis is similar to that found in most of myeloproliferative disorders at some step of evolutivity. In these diseases myelofibrosis is associated with qualitative and quantitative abnormalities of platelets and megakaryocytes. These abnormalities give elements to sustain our hypothesis.
mesh_terms: D001791:Blood Platelet Disorders / Q000150:complications / Q000209:etiology / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D003094:Collagen / Q000096:biosynthesis; D003594:Cytoplasmic Granules / Q000473:pathology*; D006801:Humans; D007376:Interleukin-2 / Q000494:pharmacology; D008533:Megakaryocytes / Q000378:metabolism; D055728:Primary Myelofibrosis / Q000150:complications*; D012155:Reticulin
chemical_list: D007376:Interleukin-2; D012155:Reticulin; D003094:Collagen
vernacular_title: Déficit congénital en alpha granules plaquettaires et fibrose réticulinique médullaire, Hypothèses physiopathogènique.