Type I plasminogen deficiency with unexpected clinical aspects: Could be more than coexistence?

Autor: Şule Altıner, Jürgen Klammt, Matthias K. Bernhard, Volker Schuster, Halil Gürhan Karabulut
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Cogent Medicine, Vol 4, Iss 1 (2017)
Druh dokumentu: article
ISSN: 2331-205X
2331205X
DOI: 10.1080/2331205X.2017.1334317
Popis: Type I plasminogen deficiency is a rare autosomal recessive systemic disorder. It usually starts in infancy and is clinically characterized by chronic mucosal pseudomembranous lesions which contain largely fibrin due to diminished extracellular plasmin mediated fibrinolysis. The most common clinical manifestation occurs in conjunctiva and therefore the disease is also named as ligneous conjunctivitis. Though type I plasminogen deficiency is known to cause female infertility due to genital tract inflammation and destruction, no male infertile patient with ligneous conjunctivitis was reported to date. In this case report, two siblings, both had ligneous conjunctivitis and gingivitis are presented. The male patient had primary infertility and his sister who was also infertile had neuroendocrine carcinoma. Both of the patients were found to be homozygous for PLG gene IVS6 + 1 G > A (c.668 + 1G > A) mutation. Plasmin and fibrinolysis pathway play important role in male infertility and our patient’s infertility could be due to type I plasminogen deficiency.
Databáze: Directory of Open Access Journals
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