Congenital insensitivity to pain with anhidrosis or hereditary sensory-autonomic neuropathy type IV (abbr. Eng. HSAN IV ) is an extremely rare hereditary disorder of the nervous system, which is characterized by the absence of a sensation of pain, heat, cold and some other sensations (including the sensation of the need for urination ) " Anhidrosis " means that the body does not sweat, and "congenital" indicates that the condition is present from birth.
| Congenital insensitivity to pain with anhidrosis | |
|---|---|
| ICD-10 | G 60.8 |
| ICD-9 | 356.8 |
| Omim | 256800 |
| Diseasesdb | 32097 |
| Mesh | D009477 |
Content
- 1 Clinical Description
- 2 Responsible gene
- 3 notes
- 4 Literature
Clinical Description
People with this disorder are usually injured because they don’t feel pain . For example, a patient may get severe burns and not even notice.
The main features of the disorder are the following symptoms: lack of pain, painless injuries to the hands, feet and maxillofacial region, hyperthermia in hot weather due to inability to sweat, infection and scarring of the tongue, lips and gums, chronic infections of bones and joints, bone fractures , multiple scars, osteomyelitis and joint deformity, which can even lead to amputation.
Other common problems are with the eyes , for example, an infection caused by the fact that patients often rub them heavily or scratch them during sleep.
Congenital insensitivity to pain with anhidrosis causes mental retardation [1] [2] .
Responsible Gene
The gene responsible for the occurrence of the disease is TrkA (NTRK1) [1] .
Notes
- ↑ 1 2 H. Yokozeki, H. Murota, I. Katayama. Perspiration Research . - Karger Medical and Scientific Publishers, 1 September 2016. - P. 25. - ISBN 978-3-318-05905-2 .
- ↑ Issues in Pediatric and Adolescent Medicine Research and Practice: 2011 Edition . - ScholarlyEditions, 2012 .-- P. 894. - ISBN 978-1-4649-6340-7 .
Literature
- Indo Y., Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A., Bean LJH, Bird TD, Ledbetter N., Mefford HC, Smith RJH, Stephens K. Congenital Insensitivity to Pain with Anhidrosis (neopr.) . - University of Washington, Seattle, 1993. - PMID 20301726 .
- Indo Yasuhiro. Mutations in the TRKA / NGF Receptor Gene in Patients with Congenital Insensitivity to Pain with Anhidrosis . Kumamoto University.
- Shatzky S., Moses S., Levy J. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA / NGF receptor gene, clinical findings, and results of nerve conduction studies ) // American Journal of Medical Genetics : journal. - 2000 .-- June ( vol. 92 , no. 5 ). - P. 353-360 . - DOI : 10.1002 / 1096-8628 (20000619) 92: 5 <353 :: AID-AJMG12> 3.0.CO; 2-C . - PMID 10861667 .
- Mardy Sek, Yuichi Miura, Fumio Endo, Ichiro Matsuda, Yasuhiro Indo. Congenital Insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor (Eng.) // Human Molecular Genetics : journal. - Oxford University Press , 2001. - Vol. 10 , no. 3 . - P. 179-188 . - DOI : 10.1093 / hmg / 10.3.179 .