Literature DB >> 28265398

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects.

Abdullah A Baothman1, Enaam AlSobhi2, Hassan A Khayat3, Raed E Alsulami3, Abdulaziz S Alkahtani3, Abdelraheem A Al-Thobyani4, Yousef I Marzouk3, Mohammad A Abdelaal2.   

Abstract

Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Premarital counseling should be offered when family history suggests.

Entities:  

Keywords:  Deficiency; genotype; homozygous; presentation; protein C; purpura fulminans

Year:  2017        PMID： 28265398      PMCID： PMC5331256          DOI： 10.1002/ccr3.699

Source DB:  PubMed          Journal:  Clin Case Rep        ISSN： 2050-0904


  29 in total

1.  A new vitamin K-dependent protein. Purification from bovine plasma and preliminary characterization.

Authors:  J Stenflo
Journal:  J Biol Chem       Date:  1976-01-25       Impact factor: 5.157

2.  A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation.

Authors:  Ferda Ozlu; Mayu Kyotani; Erdal Taskin; Kenan Ozcan; Tetsuhito Kojima; Tadashi Matsushita; Hacer Yapicioğlu; Akira Takagi; Ilgen Saşmaz; Mehmet Satar; Nejat Narli
Journal:  J Pediatr Hematol Oncol       Date:  2008-08       Impact factor: 1.289

Review 3.  Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment.

Authors:  R A Marlar; S Mastovich
Journal:  Blood Coagul Fibrinolysis       Date:  1990-08       Impact factor: 1.276

Review 4.  The regulation of hemostasis: the protein C system.

Authors:  L H Clouse; P C Comp
Journal:  N Engl J Med       Date:  1986-05-15       Impact factor: 91.245

5.  Protein C deficiency: a case review.

Authors:  Alicia Kelly; Gregory D Pearson
Journal:  Neonatal Netw       Date:  2011 May-Jun

6.  Homozygous protein C deficiency: observations on the nature of the molecular abnormality and the effectiveness of warfarin therapy.

Authors:  C Peters; J F Casella; R A Marlar; R R Montgomery; W H Zinkham
Journal:  Pediatrics       Date:  1988-02       Impact factor: 7.124

7.  A novel mutation c.1048A>T at codon 350(Lys>Stop) in PROC gene causing neonatal purpura fulminans.

Authors:  Rakhi Jain; Leenath T; Jolly Chandran; Giridhara R Jayandharan; Arpana Palle; Prabhakar D Moses
Journal:  Blood Coagul Fibrinolysis       Date:  2013-12       Impact factor: 1.276

Review 8.  Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months.

Authors:  E G Tuddenham; T Takase; A E Thomas; A S Awidi; F F Madanat; M M Abu Hajir; P B Kernoff; A V Hoffbrand
Journal:  Thromb Res       Date:  1989-03-01       Impact factor: 3.944

9.  Late-onset homozygous protein C deficiency manifesting cerebral infarction as the first symptom at age 27.

Authors:  K Deguchi; T Tsukada; E Iwasaki; H Wada; S Murashima; M Miyazaki; S Shirakawa
Journal:  Intern Med       Date:  1992-07       Impact factor: 1.271

10.  Homozygous protein C deficiency combined with heterozygous dysplasminogenemia found in a 21-year-old thrombophilic male.

Authors:  S Manabe; M Matsuda
Journal:  Thromb Res       Date:  1985-08-01       Impact factor: 3.944
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  3 in total

1.  Homozygous protein C deficiency presenting as neonatal purpura fulminans: management with fresh frozen plasma, low molecular weight heparin and protein C concentrate.

Authors:  Hande Kizilocak; Nihal Ozdemir; Gürcan Dikme; Begum Koc; Tiraje Celkan
Journal:  J Thromb Thrombolysis       Date:  2018-02       Impact factor: 2.300

2.  An Unusual Occurrence of Protein C Deficiency and Cytomegalovirus Infection in a Case of Purpura Fulminans.

Authors:  Haseena Sait; Raghvendra Singh; Seema Kapoor
Journal:  Indian J Dermatol       Date:  2021 Mar-Apr       Impact factor: 1.494

Review 3.  Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review.

Authors:  Fariba Ghassemi; Fatemeh Abdi; Mandana Esfahani
Journal:  BMC Ophthalmol       Date:  2020-07-13       Impact factor: 2.209
  3 in total

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