Abstract
A child with chronic relapsing thrombotic thrombocytopenic purpura (TTP/HUS) had recurrent thrombocytopenia, microangiopathic hemolytic anemia with fragmented erythrocytes, microthrombi in the lung vessels, and renal dysfunction. Assay of von Willebrand factor (vWF)-cleaving protease showed a complete protease deficiency in the patient and subnormal activities in the mother and in two asymptomatic siblings. No inhibitor of vWF-cleaving protease was detected in the patient's plasma. Periodic transfusions of fresh-frozen plasma prevented further acute episodes of TTP/HUS. Specific diagnosis of the constitutional deficiency of vWF-cleaving protease helps to provide successful prophylactic therapy.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
ADAM Proteins
-
ADAMTS13 Protein
-
Anemia, Hemolytic / enzymology
-
Anemia, Hemolytic / genetics
-
Blood Component Transfusion
-
Child, Preschool
-
Consanguinity
-
Female
-
Genes, Recessive
-
Humans
-
Male
-
Metalloendopeptidases / blood
-
Metalloendopeptidases / deficiency*
-
Metalloendopeptidases / genetics*
-
Nuclear Family
-
Pedigree
-
Pulmonary Circulation
-
Purpura, Thrombotic Thrombocytopenic / enzymology
-
Purpura, Thrombotic Thrombocytopenic / genetics*
-
Purpura, Thrombotic Thrombocytopenic / therapy
-
Thrombocytopenia / enzymology
-
Thrombocytopenia / genetics
-
von Willebrand Factor / metabolism
Substances
-
von Willebrand Factor
-
ADAM Proteins
-
Metalloendopeptidases
-
ADAMTS13 Protein
-
ADAMTS13 protein, human