Successful kidney transplantation in a patient with congenital thrombotic thrombocytopenic purpura (Upshaw‐Schulman syndrome)

Abstract

Our experience suggests that kidney transplantation may be an appropriate management for carefully selected patients with congenital TTP who develop end-stage renal disease.

Diagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker

“…Though analysis by bioinformatic tools is inconsistent (Mutation Taster: polymorphism; PolyPhen2: probably damaging; SIFT: tolerated; PROVEAN: deleterious), a biological consequence of c.2746C>T, p.Arg916Cys is plausible as it creates an unpaired cysteine. More importantly, it was reported in compound heterozygosity with a further ADAMTS13 mutation in several Upshaw-Schulman syndrome (USS) patients (15)(16)(17). Furthermore, a poster presented by Russo et al (18), reported an USS patient with homozygosity for the same complex allele as found in the patient described here.…”

Stroke and myocardial infarction in hereditary thrombotic thrombocytopenic purpura: similarities to sickle cell anemia

“…Only 4 of 88 patients receiving plasma prophylaxis experienced TIA/stroke. The fathers of 2 patients died of stroke at ages 39 years 9 and 63 years 10 ; they were assumed to be heterozygous but had not had ADAMTS13 sequencing. This is consistent with the observations that low-normal ADAMTS13 activity increases risk for stroke.…”