CL115 - Le syndrome hémolytique et urémique atypique chez l’enfant

Boukedi, A.; Abdallah, R. Chabchoub Ben; Salah, Mohamed Ben

doi:10.1016/s0929-693x(10)70331-6

Cited by 1 publication

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“…The first child was a 25 months old male, presented with relapses of hemolytic anemia, thrombocytopenia and renal failure. He also had severe deficiency of ADAMTS 13 activity in absence of inhibitors 9. ADAMTS 13 mutation was not specified in this case.…”

Section: Discussionmentioning

confidence: 79%

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Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation And First ADAMTS 13 Mutation In A Tunisian Child

Borgi

Khémiri²,

Veyradier³

et al. 2013

Mediterr J Hematol Infect Dis

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BackgroundCongenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties.Case reportA 2 year old Tunisian child presented with chronic thrombopenic purpura which failed to respond to corticosteroids. Hemolytic anemia with schistocytes, occurred ten months later, with no previous history of diarrhea or any neurological abnormality. Renal function and coagulation screening tests were normal. The count of platelet improved after fresh frozen infusion (FFP). Extensive investigations revealed a severe deficiency of ADAMTS 13 activity (level< 5%). Gene sequencing identified mutation in exon 18 of ADAMTS 13 gene. Prophylactic regimen with regular infusions of FFP was associated to favorable outcome.ConclusionEarly ADAMTS 13 activity testing and gene sequencing associated to precocious plasmatherapy are recommended to reduce morbidity and mortality of congenital TTP.

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Section: Discussionmentioning

confidence: 79%

“…To our knowledge, only two. Tunisian children had been reported in the literature 9,10. The first child was a 25 months old male, presented with relapses of hemolytic anemia, thrombocytopenia and renal failure.…”

Section: Discussionmentioning

confidence: 99%