Hereditary thrombocytopenic purpura in infant: a case report 

  • 武双双,王玥,马翠,等
Expand
  • Department of Pediatric Hematology, The First Hospital of Jilin University, Changchun 130021, Jilin, China

Online published: 2020-01-22

Abstract

Objective To explore the diagnosis and treatment of hereditary thrombocytopenic purpura (TTP). Method The clinical data of hereditary TTP in a child was retrospectively analyzed. Results A girl suffered from recurrent jaundice, irritability, anemia, thrombocytopenia, and proteinuria soon after birth. Gene sequencing showed two heterozygous mutations in the exon of ADAMTS13 gene, c.3616C > T (cytosine > thymine) and c.334delG deletion mutations, which came from parents respectively, belonged to compound heterozygous mutations and accorded with autosomal recessive inheritance. The diagnosis of hereditary TTP of thrombotic microangiopathy was definitely made and it recurred many times. The therapeutic plasma infusion had good effect. Conclusion In case of clinically typical or atypical hemolytic anemia accompanied by thrombocytopenia, kidney damage, clinician should be vigilant to possibility of hereditary TTP. Gene testing is helpful for diagnosis. The plasma infusion can be used to treat hereditary TTP.

Cite this article

武双双,王玥,马翠,等 . Hereditary thrombocytopenic purpura in infant: a case report [J]. Journal of Clinical Pediatrics, 2019 , 37(10) : 782 . DOI: 10.3969/j.issn.1000-3606.2019.10.015

Outlines

/