Rapid genetic diagnosis in neonatal pulmonary artery thrombosis caused by homozygous antithrombin Budapest 3

被引：13

作者：

Brown, SA ^{[1
]}

Mitchell, M ^{[1
]}

Cutler, JA ^{[1
]}

Moore, G ^{[1
]}

Smith, MP ^{[1
]}

Savidge, GF ^{[1
]}

机构：

[1] St Thomas Hosp, Hacmophilia Reference Ctr, London, England

来源：

CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS | 2000年 / 6卷 / 03期

关键词：

antithrombin Budapest 3 deficiency; neonatal thrombosis; molecular diagnosis; antithrombin concentrate; heparin resistance;

D O I：

10.1177/107602960000600312

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a case of spontaneous left pulmonary artery thrombosis in a 3-day-old male neonate. The presentation of hrparin resistance and thrombosis raised the possibility of a type II heparin binding site antithrombin deficiency. A continuous infusion of anrithrombin concentrate was used successfully, following failure of plasma, to correct the heparin resistance. Rapid genetic analysis allowed sequencing of the antithrombin gene within 5 working days. This showed the infant to be homozygous for the substitution of C to T at nucleotide 2759. This base change causes mutation of the native leucine at codon 99 to a phenylalanine. This antithrombin variant has been previously reported (antithrombin Budapest 3) and results in reduced binding of heparin to antithrombin. Such a molecular diagnostic approach is feasible and warranted in such cases of neonatal thrombosis because of the diagnostic difficulties encountered.

引用

页码：181 / 183

页数：3

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