The first two Japanese cases of severe type I congenital plasminogen deficiency with ligneous conjunctivitis: successful treatment with direct thrombin inhibitor and fresh plasma.
A 71-year-old woman and her elder sister developed ligneous conjunctivitis after ocular surgery. Laboratory tests demonstrated that the proband and her sister had 6.6% and 8.1% of plasminogen activity, and 1.2 and 1.4 mg/dl of antigen, respectively. Thus, they were diagnosed as having severe type I plasminogen deficiency, for the first time, in Japan. DNA sequencing and PCR-RFLP analyses revealed that these two cases are homozygotes of a novel A-to-G mutation at the obligatory splicing acceptor site in intron-C. Both cases were satisfactorily treated with a direct thrombin inhibitor, topical Argatroban, and topical plasma obtained from their healthy family members.
Suzuki
Takashi
T
Department of Ophthalmology, Ehime University School of Medicine, Ehime, Japan.
Ikewaki
Junko
J
Iwata
Hiroki
H
Ohashi
Yuichi
Y
Ichinose
Akitada
A
D000368:Aged; D016913:Blood Component Transfusion; D003231:Conjunctivitis / Q000188:drug therapy / Q000235:genetics / Q000628:therapy*; D005260:Female; D006801:Humans; D007564:Japan; D010949:Plasma; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics*; D013917:Thrombin / Q000037:antagonists & inhibitors
D010958:Plasminogen; D013917:Thrombin