期刊
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
卷 16, 期 5, 页码 1177-1183出版社
AMER SOC NEPHROLOGY
DOI: 10.1681/ASN.2005010086
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资金
- Telethon [GGP02162] Funding Source: Medline
Thrombotic thrombocytopenic purpura is a rare disorder of small vessels that is associated with deficiency of the von Willebrand factor- cleaving protease ADAMTS13, which favors platelet adhesion and aggregation in the microcirculation. The disease manifests mainly with central nervous system symptoms, but cases of renal insufficiency have been reported. Presented are findings of the genetic basis of phenotype heterogeneity in thrombotic thrombocytopenic purpura in two sisters within one family. The patients had ADAMTS13 deficiency as a result of two heterozygous mutations (causing V88M and G1239V changes). In addition, a heterozygous mutation (causing an S890I change) in factor H of complement was found in the patient who developed chronic renal failure but not in her sister, who presented with exclusive neurologic symptoms.
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