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Congenital deficiency of protein C with late clinical manifestation

Ortega Calvo, M.; Méndez Mora, J.L.; Macías Pérez, V.; Mellado Fuentes, F.

Anales de Medicina Interna 11(7): 347-348

1994

ISSN/ISBN: 0212-7199
PMID: 7981364
Document Number: 433441
The congenital deficit of protein C has a great diversity of clinical manifestations regarding age. In this paper, we describe the case of a man whose initial symptomatology appeared at the age of 68. Protein C is a vitamin-K dependent plasmatic glycoprotein which has anticoagulant activity through the inactivation of factors Va and VIIIa. The hereditary deficit of protein C is usually presented in a dominant autosomic mode with partial penetration and its prevalence is estimated in each of 200-300 healthy blood donors.

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Zacharías, S.; Contreras, P. 1984: Hirsutism secondary to congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency of late onset. a clinical case Revista Chilena de Obstetricia y Ginecologia 49(5): 295-299
Sirithangkul, S.; Chuengchitraks, S.; Staworn, D.; Laohapand, C.; Silarat, T. 2010: Late manifestation of congenital cystic adenomatoid malformation with lung abscess: a case report Journal of the Medical Association of Thailand 93 Suppl. 6: S223-S227
Gallardo, E.; Porcile, A. 1991: Hirsutism in Chilean women: importance of 21-hydroxylase congenital deficiency of late onset Revista Medica de Chile 119(2): 147-151
Schaison, G.; Gilbert-Dreyfus 1974: Late-appearing congenital adrenal hyperplasia. Apropos of 3 cases of 11 beta hydroxylase deficiency Annales de Medecine Interne 125(2): 163-168
Castaigne, P.; Rondot, P.; Escourolle, R.; Brunet, P.; Ribadeau Dumas, J.L. 1972: Malformation of Galen's vein with late manifestation; anatomo-clinical study Revue Neurologique (Paris) 126(4): 304-312
Boehm, B.O.; Rosak, C.; Boehm, T.L.; Kuehnl, P.; White, P.C.; Schöffling, K. 1986: Classical and late-onset forms of congenital adrenal hyperplasia caused by 21-OH deficiency reveal different alterations in the C4/21-OH gene region Molecular Biology and Medicine 3(5): 437-448
Schlegel, J.; Kienast, K.; Fischer, B.; Ferlinz, R. 1995: Clinical late manifestation of Ondine's syndrome with pronounced primary, especially sleep related alveolar hypoventilation Pneumologie 49(Suppl 1): 155-157
Sala, N.; Muñiz, E.; Borrell, M.; Félez, J.; Fontcuberta, J. 1987: Congenital protein C deficiency in patients with thromboembolic disease. Study of 4 Spanish families Medicina Clinica 88(15): 569-573
Aguercif, M.; Nigg, O.M.; Lopez, J.M.; Bouvier, C.A. 1971: Congenital deficiency of fibrin stabilizing activity. Presence of a protein immunologically analogous to factor XIIi Nouvelle Revue Francaise d'Hematologie 11(6): 841-848
García-Plaza, I.; Jiménez Astorga, C. 1985: Clinical aspects of protein C and protein S deficiency Sangre 30(4-C): 797-802
Maeda, Y.; Satoh, K.; Haboshi, T.; Hanaoka, M.; Shimada, K.; Matsuzaki, K.; Miyake, H.; Niki, H. 2017: A Case Report of Congenital Protein C Deficiency with Cerebral Venous Sinus Thrombosis during Early Pregnancy Period No Shinkei Geka. Neurological Surgery 45(10): 913-918
Ilfeld, F.W.; Westin, G.W. 1980: "Missed" or late-diagnosed congenital dislocation of the hip. a clinical entity Israel Journal of Medical Sciences 16(4): 260-266
Zhang, K.T.; Xu, Z.J.; Wang, L.; Liu, J.; Ge, R.F.; Han, M. 2019: Clinical report of one case of ANCA associated vasculitis with laryngeal manifestation as the first manifestation Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 54(9): 691-692
Di Fiore, M.T.; Manfredi, R.; Marri, L.; Zucchini, A.; Azzaroli, L.; Manfredi, G. 1993: Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type Ii Acta Neurologica 15(4): 258-267
Barkagan, Z.S.; Belykh, S.I.; Karpenko, A.A. 1993: The clinical characteristics, complications and therapeutic problems of protein C deficiency Terapevticheskii Arkhiv 65(7): 58-62
Schaub, J.; Osang, M. 1976: Congenital enzyme deficiency in carbohydrate metabolism. its significance for clinical pediatrics and human biochemical genetics Münchener Medizinische Wochenschrift 118(19): 609-614
Zulkifli, A. 1979: Congenital factor VII deficiency presenting as iron deficiency anaemia--Case report Medical Journal of Malaysia 33(4): 360-361
Marlar, R.A.; Mastovich, S. 1990: Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment Blood Coagulation and Fibrinolysis: An International Journal in Haemostasis and Thrombosis 1(3): 319-330
Lenot, B.; Bellenot, F.; Regnard, J.F.; Dartevelle, P.; Rojas-Miranda, A.; Levasseur, P. 1990: Rupture of the diaphragm of late manifestation Annales de Chirurgie 44(2): 157-160
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