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Thromb Haemost 2001; 85(06): 1004-1010
DOI: 10.1055/s-0037-1615955
DOI: 10.1055/s-0037-1615955
Review Article
Homozygous and Compound-heterozygous Type I Plasminogen Deficiency Is a Common Cause of Ligneous Conjunctivitis
Weitere Informationen
Publikationsverlauf
Received
25. Oktober 2000
Accepted after revision
19. Januar 2001
Publikationsdatum:
12. Dezember 2017 (online)
Summary
Severe type I plasminogen deficiency has been recently linked to ligneous conjunctivitis, a rare and uncommon form of chronic conjunctivitis. In this study, eight unrelated ligneous conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19 → Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134 → Lys) and a nonsense mutation (Cys133 → Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565ins-G). In two unrelated subjects with ligneous conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19 → Glu mutation is the most prevalent mutation in the plasminogen gene of patients with ligneous conjunctivitis.
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References
- 1 Bouisson M. Ophthalmie sur-aigue avec formation de pseudomembranes á la surface de la conjonctive. Ann Oculist 1847; 17: 100-4.
- 2 Borel MG. Un nouvau syndrome palpébral. Bull Soc Franç Ophthalm 1933; 46: 168-80.
- 3 Bateman JB, Pettit TH, Isenberg SJ, Simons KB. Ligneous conjunctivitis: an autosomal recessive disorder. J Pediatr Ophthalmol Strabismus 1986; 23: 137-40.
- 4 Cohen SR. Ligneous conjunctivitis: An ophthalmic disease with potentially fatal tracheobronchial obstruction. Laryngeal and tracheobronchial features. Ann Otol Rhinol Laryngol 1990; 99: 509-12.
- 5 Newcomer V, Klein A. Ligneous conjunctivitis. Arch Dermatol 1977; 113: 511-2.
- 6 Rubin A, Buck D, Macdonald MR. Ligneous conjunctivitis involving the cervix. Case report. Br J Obstet Gynaecol 1989; 96: 1228-30.
- 7 Scurry J, Planner R, Fortune DW, Lee CS, Rode J. Ligneous (pseudomembranous) inflammation of the female genital tract. A report of two cases. J Reprod Med 1993; 38: 407-12.
- 8 Mingers AM, Heimburger N, Zeitler P, Kreth HW, Schuster V. Homozygous type I plasminogen deficiency. Semin Thromb Hemost 1997; 23: 259-69.
- 9 Chambers JD, Blodi FC, Golden B, McKee AP. Ligneous conjunctivitis. Trans Am Acad Ophthalmol Otolaryngol 1969; 73: 996-1004.
- 10 Eagle R, Brooks JSJ, Katowitz JA, Weinberg JC, Perry HD. Fibrin as a major constituent of ligneous conjunctivitis. Am J Ophthalmol 1986; 101: 493-4.
- 11 De Cock R, Ficker LA, Dart JG, Garner A. Wright. Topical heparin in the treatment of ligneous conjunctivitis. Ophthalmology 1995; 102: 1654-9.
- 12 Hidayat HM, Riddle PJ. Ligneous conjunctivitis: a clinicopathologic study of 17 cases. Ophthalmology 1987; 94: 949-59.
- 13 Firat T. Ligneous conjunctivitis. Am J Ophthalmol 1974; 78: 679-88.
- 14 Mingers AM, Philapitsch A, Zeitler P, Schuster V, Schwarz HP, Kreth HW. Human type I plasminogen deficiency and ligneous conjunctivitis. APMIS 1999; 107: 62-72.
- 15 Schuster V, Mingers AM, Seidenspinner S, Nüssgens Z, Pukrop T, Kreth HW. Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. Blood 1997; 90: 958-66.
- 16 Schuster V, Seidenspinner S, Zeitler P. et al. Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. Blood 1999; 93: 3457-66.
- 17 Schott D, Dempfle CE, Beck B. et al. Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency. N Engl J Med 1998; 339: 1679-86.
- 18 Drew AF, Kaufman AH, Kombrinck KW. et al. Ligneous conjunctivitis in plasminogen-deficient mice. Blood 1998; 91: 1616-24.
- 19 Demeulemeester C, Meire F, Hanssens M, De Laey JJ. A puzzling case: conjunctivitis lignosa?. Bull Soc Belge Ophthalmol 1998; 268: 143-7.
- 20 Abreu GB, Versalovic CA, Abreu EB, Betinjane JA, Filho LS. Conjuntivite lenhosa: Apresentação de um caso. ARQ IPB 1992; 34: 85-7 (in Spanish).
- 21 Laurell CB. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem 1966; 15: 45-52.
- 22 Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970; 227: 680-5.
- 23 Towbin H, Staehelin T, Gordon J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 1979; 76: 4350-4.
- 24 Justus C, M¸ller S, Kramer MD. A monoclonal antibody recognizing plasminogen and plasmin – altered reactivity in psoriatic lesions. Br J Dermatol 1987; 117: 687-94.
- 25 Petersen TE, Martzen MR, Ichinose A, Davie EW. Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system. J Biol Chem 1990; 265: 6104-11.
- 26 Forsgren M, Raden B, Israelsson M, Larsson K, Hedén L-O. Molecular cloning and characterization of a full-length cDNA clone for human plasminogen. FEBS Lett 1987; 213: 254-60.
- 27 Aoki N, Moroi M, Sakata Y, Yoshida N, Matsuda M. Abnormal plasminogen. A hereditary molecular abnormality found in a patient with recurrent thrombosis. J Clin Invest 1978; 61: 1186-95.
- 28 Ichinose A, Espling ES, Takamatsu J. et al. Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis. Proc Natl Acad Sci USA 1991; 88: 115-9.
- 29 Lund LR, Rømer J, Bugge TH. et al. Functional overlap between two classes of matrix-degrading proteases in wound healing. EMBO J 1999; 18: 4645-56.
- 30 Bugge TH, Kombrinck KW, Flick MJ, Daugherty CC, Danton MJ, Degen JL. Loss of fibrinogen rescues mice from pleiotropic effects of plasminogen deficiency. Cell 1996; 87: 709-19.
- 31 Kao WW, Kao CW, Kaufman AH, Kombrinck KW, Converse RL, Good WV, Bugge TH, Degen JL. Healing of corneal epithelial defects in plasminogen- and fibrinogen-deficient mice. Invest Ophthalmol Vis Sci 1998; 39: 502-8.
- 32 Rømer J, Bugge TH, Pyke C, Lund LR, Flick MJ, Degen JL, Dano K. Impaired wound healing in mice with a disrupted plasminogen gene. Nat Med 1996; 2: 287-92.
- 33 Tait RC, Walker ID, Conkie JA, Islam SI, McCall F. Isolated familial plasminogen deficiency may not be a risk factor for thrombosis. Thromb Haemost 1996; 76: 1004-8.
- 34 Shigekiyo T, Uno Y, Tomonari A, Satoh K, Hondo H, Ueda S, Saito S. Type I congenital plasminogen deficiency is not a risk factor for thrombosis. Thromb Haemost 1992; 67: 189-92.
- 35 Biasiutti FD, Sulzer I, Stucki B, Wuillemin WA, Furlan M, Lämmle B. Is plasminogen deficiency a thrombotic risk factor? – A study on 23 thrombophilic patients and their family members. Thromb Haemost 1998; 80: 167-70.
- 36 Nowak-Göttl U, Junker R, Hartmeier M, Koch HG, Munchow N, Assmann G, von Eckardstein A. Increased lipoprotein(a) is an important risk factor for venous thromboembolism in childhood. Circulation 1999; 100: 743-8.
- 37 Castellino FJ, McCance SG. The kringle domains of human plasminogen. Ciba Found Symp 1997; 212: 46-60.
- 38 Twining SS, Wilson PM, Ngamkitidechakul C. Extrahepatic synthesis of plasminogen in the human cornea is up-regulated by interleukins-1alpha and -1beta. Biochem J 1999; 339: 705-12.
- 39 Zeitler P, Schuster V. Plasma values for u-PA in children. Eur J. Pediatr 1999; 158 (Suppl. 03) S205-8.