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Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)

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Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). / Licht, Christoph; Stapenhorst, Ludwig; Simon, Thorsten; Budde, Ulrich; Schneppenheim, Reinhard; Hoppe, Bernd.

in: KIDNEY INT, Jahrgang 66, Nr. 3, 01.09.2004, S. 955-8.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Licht, C, Stapenhorst, L, Simon, T, Budde, U, Schneppenheim, R & Hoppe, B 2004, 'Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)', KIDNEY INT, Jg. 66, Nr. 3, S. 955-8. https://doi.org/10.1111/j.1523-1755.2004.00841.x

APA

Licht, C., Stapenhorst, L., Simon, T., Budde, U., Schneppenheim, R., & Hoppe, B. (2004). Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). KIDNEY INT, 66(3), 955-8. https://doi.org/10.1111/j.1523-1755.2004.00841.x

Vancouver

Licht C, Stapenhorst L, Simon T, Budde U, Schneppenheim R, Hoppe B. Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). KIDNEY INT. 2004 Sep 1;66(3):955-8. https://doi.org/10.1111/j.1523-1755.2004.00841.x

Bibtex

@article{a0b615ff06ef45699785ac800d56b79e,
title = "Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)",
abstract = "BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS) are now considered to be variants of one single syndrome called thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). Key features are thrombocytopenia, hemolytic anemia, and subsequently impaired function of different organs, especially the kidneys and the central nervous system (CNS). One possible reason is the deficiency of von Willebrand factor-cleaving protease (vWF-CP) resulting in persistence of uncleaved, ultralarge von Willebrand factor multimers (ULvWFM).METHODS: We report a patient who was initially diagnosed with Evans syndrome (hemolytic anemia and autoimmune thrombocytopenia) as infant. At 10 years of age he developed HUS-like disease with gastrointestinal tract infection, hemolytic anemia, thrombocytopenia,and acute renal failure. However, enteropathogenic Escherichia coli-like or Shiga-like toxins were not detected.RESULTS: Further investigations revealed severe deficiency (<3%; normal >40%) of vWF-CP activity caused by compound heterozygosity of two novel ADAMTS13 gene mutations (1170 G>C [W390C] and 3735 G>A [W1245X]. vWF-CP autoantibodies were not detected. Periodic (every 2 weeks) treatment with fresh frozen plasma (FFP) maintained both platelet level and kidney function within normal range and prevented new episodes of TTP/HUS.CONCLUSION: Enteropathogenic E. coli- and Shiga-like toxin-negative patients who present with hemolytic or thrombocytopenic episodes and HUS like symptoms should be tested for vWF-CP deficiency and other noninfectious reasons for TTP/HUS since plasma substitution possibly provides an efficient therapeutic option for this subgroup of patients.",
keywords = "ADAM Proteins, Child, Hemolytic-Uremic Syndrome, Humans, Male, Metalloendopeptidases, Pedigree, Point Mutation, Purpura, Thrombotic Thrombocytopenic",
author = "Christoph Licht and Ludwig Stapenhorst and Thorsten Simon and Ulrich Budde and Reinhard Schneppenheim and Bernd Hoppe",
year = "2004",
month = sep,
day = "1",
doi = "10.1111/j.1523-1755.2004.00841.x",
language = "English",
volume = "66",
pages = "955--8",
journal = "KIDNEY INT",
issn = "0085-2538",
publisher = "NATURE PUBLISHING GROUP",
number = "3",

}

RIS

TY - JOUR

T1 - Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)

AU - Licht, Christoph

AU - Stapenhorst, Ludwig

AU - Simon, Thorsten

AU - Budde, Ulrich

AU - Schneppenheim, Reinhard

AU - Hoppe, Bernd

PY - 2004/9/1

Y1 - 2004/9/1

N2 - BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS) are now considered to be variants of one single syndrome called thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). Key features are thrombocytopenia, hemolytic anemia, and subsequently impaired function of different organs, especially the kidneys and the central nervous system (CNS). One possible reason is the deficiency of von Willebrand factor-cleaving protease (vWF-CP) resulting in persistence of uncleaved, ultralarge von Willebrand factor multimers (ULvWFM).METHODS: We report a patient who was initially diagnosed with Evans syndrome (hemolytic anemia and autoimmune thrombocytopenia) as infant. At 10 years of age he developed HUS-like disease with gastrointestinal tract infection, hemolytic anemia, thrombocytopenia,and acute renal failure. However, enteropathogenic Escherichia coli-like or Shiga-like toxins were not detected.RESULTS: Further investigations revealed severe deficiency (<3%; normal >40%) of vWF-CP activity caused by compound heterozygosity of two novel ADAMTS13 gene mutations (1170 G>C [W390C] and 3735 G>A [W1245X]. vWF-CP autoantibodies were not detected. Periodic (every 2 weeks) treatment with fresh frozen plasma (FFP) maintained both platelet level and kidney function within normal range and prevented new episodes of TTP/HUS.CONCLUSION: Enteropathogenic E. coli- and Shiga-like toxin-negative patients who present with hemolytic or thrombocytopenic episodes and HUS like symptoms should be tested for vWF-CP deficiency and other noninfectious reasons for TTP/HUS since plasma substitution possibly provides an efficient therapeutic option for this subgroup of patients.

AB - BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS) are now considered to be variants of one single syndrome called thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). Key features are thrombocytopenia, hemolytic anemia, and subsequently impaired function of different organs, especially the kidneys and the central nervous system (CNS). One possible reason is the deficiency of von Willebrand factor-cleaving protease (vWF-CP) resulting in persistence of uncleaved, ultralarge von Willebrand factor multimers (ULvWFM).METHODS: We report a patient who was initially diagnosed with Evans syndrome (hemolytic anemia and autoimmune thrombocytopenia) as infant. At 10 years of age he developed HUS-like disease with gastrointestinal tract infection, hemolytic anemia, thrombocytopenia,and acute renal failure. However, enteropathogenic Escherichia coli-like or Shiga-like toxins were not detected.RESULTS: Further investigations revealed severe deficiency (<3%; normal >40%) of vWF-CP activity caused by compound heterozygosity of two novel ADAMTS13 gene mutations (1170 G>C [W390C] and 3735 G>A [W1245X]. vWF-CP autoantibodies were not detected. Periodic (every 2 weeks) treatment with fresh frozen plasma (FFP) maintained both platelet level and kidney function within normal range and prevented new episodes of TTP/HUS.CONCLUSION: Enteropathogenic E. coli- and Shiga-like toxin-negative patients who present with hemolytic or thrombocytopenic episodes and HUS like symptoms should be tested for vWF-CP deficiency and other noninfectious reasons for TTP/HUS since plasma substitution possibly provides an efficient therapeutic option for this subgroup of patients.

KW - ADAM Proteins

KW - Child

KW - Hemolytic-Uremic Syndrome

KW - Humans

KW - Male

KW - Metalloendopeptidases

KW - Pedigree

KW - Point Mutation

KW - Purpura, Thrombotic Thrombocytopenic

U2 - 10.1111/j.1523-1755.2004.00841.x

DO - 10.1111/j.1523-1755.2004.00841.x

M3 - SCORING: Journal article

C2 - 15327386

VL - 66

SP - 955

EP - 958

JO - KIDNEY INT

JF - KIDNEY INT

SN - 0085-2538

IS - 3

ER -