1.
Intern Med
; 53(3): 253-7, 2014.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24492696
RESUMEN
High-molecular-weight kininogen (HMWK) deficiency is a very rare hereditary disorder. We herein report a case of HMWK deficiency with splenic infarction. The HMWK activity of the proband was markedly decreased (0.9%). Direct sequencing of his HMWK gene showed a homozygous "TC" insertion at c523-524 in exon 4. This insertion led to an amino acid substitution, Ser175Ser, resulting in a frameshift mutation and a premature stop codon in amino acid 183. Furthermore, the HMWK activity was also reduced in the patient's three children, who exhibited the heterozygous "TC" insertion at c523-524 in exon 4. This is the first report of this gene alteration in a patient with HMWK deficiency.
Asunto(s)
Trastornos de la Coagulación Sanguínea/diagnóstico , Trastornos de la Coagulación Sanguínea/genética , Exones/genética , Mutación del Sistema de Lectura/genética , Quininógeno de Alto Peso Molecular/deficiencia , Infarto del Bazo/diagnóstico , Infarto del Bazo/genética , Anciano , Trastornos de la Coagulación Sanguínea/complicaciones , Humanos , Quininógeno de Alto Peso Molecular/genética , Masculino , Linaje , Infarto del Bazo/complicaciones
2.
West J Med
; 143(5): 670-2, 1985 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-4082573