PMID- 25511654
OWN - NLM
STAT- MEDLINE
DCOM- 20150414
LR  - 20161209
IS  - 2213-0276 (Electronic)
IS  - 0755-4982 (Linking)
VI  - 44
IP  - 1
DP  - 2015 Jan
TI  - [Hereditary angioedema biological diagnosis].
PG  - 57-64
LID - S0755-4982(14)00520-X [pii]
LID - 10.1016/j.lpm.2014.06.017 [doi]
AB  - C1 inhibitor (C1 Inh) activity is an essential parameter for kinins angioedema 
      (AE) diagnosis either hereditary or acquired or sporadic, it is analysed on 
      plasma exclusively. Hereditary AE with C1 Inh functional deficiency is associated 
      with alterations of the SERPING1 gene. Hereditary AE with normal C1 Inh (HAE nC1 
      Inh) is combined with F12 gene mutations, it is coding for Factor XII whose 
      activity is controlled by C1 Inh, they are found in about 5% of HAE nC1 Inh 
      cases. Every loss of C1 Inh activity must be taken as anormal by clinicians even 
      for women with oral oestroprogestatives, it would be confirmed by the presence of 
      cleaved C1 Inh. The kinins (primarily bradykinin) are the mediators responsible 
      for local increase of vascular permeability. Bradykinin is released from high MW 
      kininogen (HK) during the contact system activation. Plasma proteases mainly 
      support this proteolytic activity controlled by C1 Inh. Family of a patient 
      diagnosed with HAE must be studied, symptomatic as asymptomatic members indeed 
      clinical symptoms regularly emerge very late in the life.
CI  - Copyright (c) 2014 Elsevier Masson SAS. All rights reserved.
FAU - Ponard, Denise
AU  - Ponard D
AD  - CHU de Grenoble, laboratoire d'immunologie, IBP, CS10217, boulevard de la 
      Chantourne, 38043 Grenoble cedex 09, France. Electronic address: 
      dponard@chu-grenoble.fr.
LA  - fre
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Angioedeme hereditaire: diagnostic biologique.
DEP - 20141212
PL  - France
TA  - Presse Med
JT  - Presse medicale (Paris, France : 1983)
JID - 8302490
RN  - 0 (Complement C1 Inhibitor Protein)
SB  - IM
MH  - Angioedemas, Hereditary/blood/*diagnosis
MH  - Blood Preservation/methods
MH  - Blood Specimen Collection/methods
MH  - Blotting, Western
MH  - Clinical Laboratory Techniques
MH  - Complement C1 Inhibitor Protein/*analysis/genetics/immunology/metabolism
MH  - DNA Mutational Analysis
MH  - Disease Progression
MH  - Female
MH  - Humans
EDAT- 2014/12/17 06:00
MHDA- 2015/04/15 06:00
CRDT- 2014/12/17 06:00
PHST- 2014/01/28 00:00 [received]
PHST- 2014/05/16 00:00 [revised]
PHST- 2014/06/02 00:00 [accepted]
PHST- 2014/12/17 06:00 [entrez]
PHST- 2014/12/17 06:00 [pubmed]
PHST- 2015/04/15 06:00 [medline]
AID - S0755-4982(14)00520-X [pii]
AID - 10.1016/j.lpm.2014.06.017 [doi]
PST - ppublish
SO  - Presse Med. 2015 Jan;44(1):57-64. doi: 10.1016/j.lpm.2014.06.017. Epub 2014 Dec 
      12.