英和和英

発音

IPA^(key): /ˌsudoʊˌhiːməˈfiːliə/

名詞

pseudohemophilia (countable かつ uncountable, 複数形 pseudohemophilias)

1. (medicine, dated) Any of several disorders of prolonged blood clotting time, seeming clinically similar to the hemophilias, but pathophysiologically different therefrom, without the same clotting factor derangements as found therein; at least some of these disorders are types of von Willebrand disease, and nowadays would be called and diagnosed thus.
   • 1959, Hermansky F, Pudlak P, “Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies”, in Blood, volume 14, number 2, DOI:10.1182/blood.V14.2.162.162, PMID 13618373, pages 162–169:

     On examining hemostasis, the only consistent abnormal laboratory finding was a prolonged bleeding time, so that the hemorrhagic disorder fell into the group of so-called pseudohemophilias.

   • 2013, Gadisseur A, Berneman Z, Schroyens W, Michiels JJ, “Pseudohemophilia of Erik von Willebrand caused by homozygous one nucleotide deletion in exon 18 of the VW-factor gene”, in World J Hematol, volume 2, number 4, DOI:10.5315/wjh.v2.i4.99, pages 99-108:

     The original description of a novel severe bleeding disorder as "Hereditary Pseudohemophilia" by Erik von Willebrand can currently be labelled as von Willebrand disease (VWD) type 3. […] [¶] All five daughters, who died from uncontrolled bleedings, very likely would have been homozygous for the deletion in exon 18 consistent with pseudohemophilia, now called VWD type 3. […] [¶] These data demonstrate that the original family S, described by Erik von Willebrand as pseudohemophilia A, has to be diagnosed as autosomal recessive VWD type 3 caused by a homozygous null mutation (one nuclotide deletion of exon 18).