Natural history of Upshaw–Schulman syndrome based on ADAMTS13 gene analysis in Japan

@article{Fujimura2011NaturalHO,
  title={Natural history of Upshaw–Schulman syndrome based on ADAMTS13 gene analysis in Japan},
  author={Y. Fujimura and M. Matsumoto and A. Isonishi and H. Yagi and K. Kokame and K. Soejima and M. Murata and T. Miyata},
  journal={Journal of Thrombosis and Haemostasis},
  year={2011},
  volume={9}
}
Summary.  Upshaw–Schulman syndrome (USS) is an extremely rare hereditary deficiency of ADAMTS13 activity, termed congenital TTP. The clinical signs are usually mild during childhood, often with isolated thrombocytopenia. But their symptoms become more evident when patients have infections or get pregnant. We identified 43 USS‐patients in Japan, who ranged in age from early childhood to 79 years of age. Analysing the natural history of these USS patients based on ADAMTS13 gene mutations may help… Expand
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.
TLDR
The present review summarizes the current knowledge about Upshaw-Schulman syndrome and suggests a more appropriate approach based on recombinant ADAMTS13 is slated to begin shortly. Expand
Two newborn-onset patients of Upshaw–Schulman syndrome with distinct subsequent clinical courses
TLDR
Results indicate the presence of a previously unknown regulatory mechanism for VWF-dependent high-shear stress-induced platelet aggregation and analysis of von Willebrand factor multimers showed single symmetrical multimer bands, which suggested that plasma VWF multimers in the patients had not been proteolytically modified. Expand
Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
TLDR
In conclusion, prespacer mutations are associated with earlier development of cTTP symptoms and decreases the risk of end-organ damage such as ischemic stroke and resolved previously unrecognized symptoms in patients with nonovert disease. Expand
Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura.
TLDR
Pregnancy-onset TTP defines a specific subgroup of patients with a strong genetic background that is associated with very high TTP relapse and abortion rates, whereas prophylactic plasmatherapy was beneficial for both the mother and the baby. Expand
ADAMTS13 activity and genetic mutations in Japan.
TLDR
The Japanese general population study included 3616 individuals with an age between 30 - 80 years confirming other studies that while ADAMTS13 activity decreased with age, VWF antigen increased andVWF antigen levels are lowest in blood group O indviduals, whereas ADAMts13 activity levels were not associated with the AB0 blood group. Expand
Low Incidence of ADAMTS13 Missense Mutation R1060W in Adult Egyptian Patients with Thrombotic Thrombocytopenic Purpura
TLDR
The objective in this study is to identify the prevalence of R1060W missense mutation in exon 24 ADAMTS13 in a sample of adult Egyptian TTP patients and reveal a high statistical difference regarding the ADAMts13 inhibitor level in primary versus secondary cases. Expand
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
TLDR
The genetic prevalence and carrier frequency of Upshaw-Schulman syndrome are within range of previously rough estimated, and the pathogenicity of ADAMTS13 variants are classified by American College of Medical Genetics and Genomics criteria. Expand
Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland.
TLDR
The systematic collection of clinical data of individual patients revealed their substantial baseline comorbidities, as a consequence of recurring TTP episodes in the past, most notable was the high proportion of patients having suffered from premature arterial thrombotic events, mainly transient isChemic attacks, ischemic strokes, and to a lesser extent myocardial infarctions. Expand
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
TLDR
Characteristics of the Hereditary TTP Registry are presented and an evaluation of overt disease onset in all patients with an available sensitive ADAMTS13 activity assay shows that residual ADAMts13 activity is not the only determinant of age at first disease manifestation. Expand
Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency.
TLDR
58 patients (41 USS and 17 acquired TTP) who were diagnosed with a severe deficiency in ADAMTS13 activity during childhood are focused on, causing a paradigm shift in the concept of TTP. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 98 REFERENCES
Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw‐Schulman syndrome
TLDR
A first case with de novomutations of ADAMTS13 is reported, involving a second child of unrelated Japanese parents who developed a hallmark of TTP, consisting of thrombocytopenia, microangiopathic hemolytic anemia, neurological dysfunction, renal failure and fever. Expand
Upshaw-Schulman Syndrome Revisited: A Concept of Congenital Thrombotic Thrombocytopenic Purpura
TLDR
Upshaw-Schulman syndrome and vWF-CPase activity appear to be coinherited as autosomal recessive traits, and the 2 to 3 weeks of therapeutic benefit from plasma infusions will be discussed in relation to the intravascular lifetime of vWF -CPase. Expand
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.
TLDR
Molecular models of the metalloprotease, fifth domain of thrombospondin 1, and Tsp1-8 domains of ADAMTS13 suggest that the missense mutations could cause structural defects in the mutants. Expand
Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
  • Y. Shibagaki, M. Matsumoto, +4 authors T. Fujita
  • Medicine
  • Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
  • 2006
TLDR
The experience appears to indicate the importance of assays of ADAMTS13 activity and its inhibitor in patients who have episodes of renal insufficiency in association with thrombotic microangiopathy, for diagnosis and choice of treatment. Expand
Pregnancy‐induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw–Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients
TLDR
Nine women diagnosed with Upshaw–Schulman syndrome who were diagnosed during their first pregnancy had severely deficient ADAMTS13 activity, emphasizing the importance of measuring ADAMts13 activity in the evaluation of thrombocytopenia during childhood and pregnancy. Expand
Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.
TLDR
In vitro expression studies revealed that the A250V mutation markedly reduced ADAMTS13 activity and the intron 3 G-->A mutation caused abnormal mRNA synthesis, and novel mutations in the ADAMts13 gene in a patient with TTP were identified. Expand
ADAMTS13 mutational analysis in Chinese patients with chronic relapsing thrombotic thrombocytopenic purpura
Mutational analysis of ADAMTS13 gene was performed on three Chinese children with chronic relapsing thrombotic thrombocytopenic purpura, who all showed severe deficiency (<5% activity) of vonExpand
A common origin of the 4143insA ADAMTS13 mutation.
TLDR
It is concluded that 4143insA has a common genetic background and is frequent among patients with hereditary ADAMTS13 deficiency in Northern and Central European countries. Expand
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.
TLDR
It is confirmed that deficiency of ADAMTS13 is a molecular mechanism responsible for familial TTP and an early diagnosis allows prophylactic treatment with fresh plasma infusions. Expand
Novel ADAMTS‐13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura
TLDR
In vitro studies found that C365del and R1060W severely impair ADAMTS‐13 synthesis in transfected Hela cells, whereas the deletion mutant also failed to cleave VWF under static and flow conditions. Expand
...
1
2
3
4
5
...