Development of Adamts13 Activity Elisa Kit and Evaluation of Its Performance

Itoh, Shin; Yamamoto, Shigekazu; Hayashi, Tsukasa; Kato, Seiji; Hiura, Hisahide; Matsumoto, Masanori; Fujimura, Yoshihiro

doi:10.3925/jjtc.56.27

Cited by 1 publication

(1 citation statement)

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“…Therefore, chromogenic ADAMTS13 act-ELISA was also performed. This assay, which is unaffected by bilirubin levels up to 50 mg/dL, 10 showed that ADAMTS13 activity was <0.5% of normal, and the level of its inhibitor was 0.9 BU/mL, possibly due to hyperbilirubinemia. Therefore, the infant was strongly suspected of having USS.…”

Section: Case Presentationmentioning

confidence: 91%

Severe Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw–Schulman Syndrome

Tsujii

Shiraishi²,

Kokame

et al. 2016

Pediatrics

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Pulmonary involvement is extremely rare in thrombotic thrombocytopenic purpura. In this report, we present a girl patient with congenital thrombotic thrombocytopenic purpura, known as Upshaw-Schulman syndrome (USS), complicated with severe hemolysis and pulmonary hypertension (PH). The assay results of a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 13 (ADAMTS13) activity measured by FRETS-VWF73 and ADAMTS13-act-ELISA were different. Hyperbilirubinemia (total bilirubin, 25.3 mg/dL) interfered strongly with the FRETS-VWF73 assay. Plasma levels of ADAMTS13 activity by act-ELISA were <0.5% of normal. The diagnosis of USS was confirmed by ADAMTS13 gene analysis, which showed compound heterozygous mutations of p.G139Vfs*17 and p.I673F. The p.G139Vfs*17 mutation was previously unreported, and its effect in splicing was confirmed by reverse transcription polymerase chain reaction. The patient received oxygen therapy for PH and exchange blood transfusion for severe hemolysis. The PH resolved without specific treatment. Based on these findings, the PH may have been caused by free hemoglobin that scavenged nitrogen oxide or platelet thrombi in the lungs caused by ADAMTS13 deficiency. Thus, severe PH can occur in neonatal patients with USS, and severe hemolysis might result in overestimation of ADAMTS 13 activity. Both possibilities are important for the diagnosis and management of USS.

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Section: Case Presentationmentioning

confidence: 91%