engleski

A child with specific ADAMTS-13 gene defect

Methods: VWF-cleaving protease activity evaluation, gene determination, clinical and laboratory follow-up.Results: A 4 year old child was admitted in Clinical hospital after recidivant episodes of haemolytic anaemia registrated in early childhood. Haemolytic anaemia (Hb 90 g/L, Htc 0.27 L/L), thrombocytopenia (31 × 10 9 /L), macrohematuria, proteinuria (089 g/24) with mild renal insufficiency (270 μmol/L) were assessed. After fresh frozen plasma, plasmapheresis and thrombocyte infusions administration, kidney biopsy revealed histological image consistent with hemolytic-uraemic syndroma in 25% of all glomeruls. After repeated episode of macrohaematuria, haemolytic anaemia and thrombocytopenia vWF cleaving protese activity was determined (<3%). Parental and sister cleaving protease activity was normal. ADAMTS-13 gene determination revealed mutations: Exon 9: Cys 347 Ser. The affected nucleotide is 1039 T → A. A mutation was inherited from his father. His sister is heterozygous for this mutation. Exon 29: 4143 ins A (an insertion of a nucleotide A at position 4144). This results in a frameshift and a premature stop codon at amino acid 1386 (normal full-length protein has 1427 amino acids).Periodical fresh frozen plasma (10 ml/kg) every 3–4 weeks were adminstered, Hepatitis B vaccination was managed and control blood count, immunology and renal function tests periodically performed. After recidivant respiratory infections, tonsilloadenoidectomy was performed.Conclusions: A child with ADAMTS-13 TTP mutation is treated with repeated plasma infusions. During substitution, urticarial rush is occasionally noticed and dealed with corticosteroid and/or histamine antagonists. No further TTP episodes, hematuria or proteinuria were noticed. Renal function remains stabile and within normal limts.

ADAMTS !3; gene defect; child

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