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Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis
Joint Authors
Pérez-López, L. M.
Cabrera-González, M.
Gutiérrez-de la Iglesia, D.
Ricart, S.
Knörr-Giménez, G.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-10-22
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Introduction.
Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome.
Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation.
This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF).
Methods.
The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities.
A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper.
Conclusions.
The therapeutic approach of CIPA remains unclear.
The preventive approach remains the only possible treatment of CIPA.
We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.
American Psychological Association (APA)
Pérez-López, L. M.& Cabrera-González, M.& Gutiérrez-de la Iglesia, D.& Ricart, S.& Knörr-Giménez, G.. 2015. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. Case Reports in Pediatrics،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1059785
Modern Language Association (MLA)
Pérez-López, L. M.…[et al.]. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. Case Reports in Pediatrics No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1059785
American Medical Association (AMA)
Pérez-López, L. M.& Cabrera-González, M.& Gutiérrez-de la Iglesia, D.& Ricart, S.& Knörr-Giménez, G.. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. Case Reports in Pediatrics. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1059785
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059785