A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia
LI Chen, CHEN Zheng, CHEN Ming-Yan, MA Xiao-Lu
Department of Neonatal Intensive Care Unit, Children's Hospital, Zhejiang University School of Medicine/National Clinical Research Center for Chird Health, Hangzhou 310051, China
Abstract A girl was admitted to the hospital on day 2 after birth due to jaundice of the skin and sclera for half a day. The main clinical manifestations were persistent severe jaundice and thrombocytopenia, and she was finally diagnosed with congenital thrombotic thrombocytopenic purpura (TTP). Her conditions were improved after phototherapy, exchange transfusion, and infusion of fresh frozen plasma, red blood cells, and platelets. Gene detection showed a homozygous mutation of c.3650T > C(p.I1217T) in the ADAMTS13 gene, while her parents had a heterozygous mutation at this locus. Congenital TTP is a rare autosomal recessive disease, and timely infusion of fresh frozen plasma can achieve a good clinical outcome. This is the first case of congenital TTP caused by homozygous mutation at this locus reported in China and overseas.
Gunnink SF, Vlug R, Fijnvandraat K, et al. Neonatal thrombocytopenia:etiology, management and outcome[J]. Expert Rev Hematol, 2014, 7(3):387-395.
[2]
Zini G, d'Onofrio G, Briggs C, et al. ICSH recommendations for identification, diagnostic value, and quantitation of schistocytes[J]. Int J Lab Hematol, 2012, 34(2):107-116.
[3]
George JN, Nester CM. Syndromes of thrombotic microangiopathy[J]. N Engl J Med, 2014, 371(7):654-666.
[4]
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424.
[5]
Zheng XL. ADAMTS13 and von Willebrand factor in thrombotic thrombocytopenic purpura[J]. Annu Rev Med, 2015, 66:211-225.
Mansouri Taleghani M, von Krogh AS, Fujimura Y, et al. Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry[J]. Hamostaseologie, 2013, 33(2):138-143.
[8]
Kokame K, Kokubo Y, Miyata T. Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome[J]. J Thromb Haemost, 2011, 9(8):1654-1656.
[9]
Fujimura Y, Kokame K, Yagi H, et al. Hereditary deficiency of ADAMTS13 activity:Upshaw-Schulman syndrome[M]. Switzerland:Springer International Publishing, 2015:73-90.
[10]
Fujimura Y, Matsumoto M, Isonishi A, et al. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan[J]. J Thromb Haemost, 2011, 9(Suppl 1):283-301.
[11]
Krogh AS, Waage A, Quist-Paulsen P. Congenital thrombotic thrombocytopenic purpura[J]. Tidsskr Nor Laegeforen, 2016, 136(17):1452-1457.
[12]
Hanby HA, Zheng XL. Current status in diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura[J]. Hereditary Genet, 2014, 3(1). pii:e108.
[13]
Kokame K, Matsumoto M, Soejima K, et al. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity[J]. Proc Natl Acad Sci U S A, 2002, 99(18):11902-11907.
[14]
Matsumoto M, Kokame K, Soejima K, et al. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome[J]. Blood, 2004, 103(4):1305-1310.
[15]
Matsumoto M, Fujimura Y, Wada H, et al. Diagnostic and treatment guidelines for thrombotic thrombocytopenic purpura (TTP) 2017 in Japan[J]. Int J Hematol, 2017, 106(1):3-15.
[16]
Park HW, Oh D, Kim N, et al. Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease[J]. Pediatr Nephrol, 2008, 23(9):1555-1558.
[17]
Coppo P, Veyradier A. Current management and therapeutical perspectives in thrombotic thrombocytopenic purpura[J]. Presse Med, 2012, 41(3 Pt 2):e163-e176.
[18]
Saha M, McDaniel JK, Zheng XL. Thrombotic thrombocyto-penic purpura:pathogenesis, diagnosis, and potential novel therapeutics[J]. J Thromb Haemost, 2017, 15(10):1889-1900.
[19]
Mise K, Ubara Y, Matsumoto M, et al. Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years:a case report[J]. BMC Nephrol, 2013, 14:156.
