Congenital painlessness adiaphoresis
The congenital painlessness adiaphoresis (せんてんせいむつうむかんしょう British: Congenital Insensitivity to Pain with Anhidrosis, CIPA) is a disease to assume the painlessness of the whole body without the exercise paralysis the main symptom. Autonomic sensuosity hereditary for a hereditary disease to be complicated with autonomic nervous system disorders for a thermal nociception disorder; neuropathic (call it, but, of these, type IV and type V are equivalent to this disease hereditary sensory and autonomic neurop which is called - neuropathy.as for the type IV for the thermal nociception disappearance of the whole body indicating the sweat drop of the whole body or the drop of the sweat that is slight in one of the patient whom a patient is, and type V is diagnosed in again who is extremely slight mind development delay in the patient whom is not accompanied by a sweat drop and mind development delay although is disappearance, a disease indicating the mind development delay of various degree, and the type V is relatively slight, and show the thermal nociception disappearance of the whole body, and, however, type IV is diagnosed in the patient was, and therefore it has begun to be thought with a model to overlap as for these. [1]
As a designated intractable disease of the intractable disease method, a seriously ill example became a target of the furtherance. [1]
Table of contents
Cause
It is a hereditary disease and autosome is recessive and is inherited. The detailed mechanism that the type IV is tied to a symptom although variation of NTRK1 (Neuropathic Tyrosine Kinase Receptor Type 1) is proved is non-revelation. As for the type V, there is variation of NGFB (Nerve Growth Factor Beta); as for the patient of the heterocombination indicating the mild symptom with the reported case [2]. A decrease in peripheral narrow path existence marrow fiber (A-delta fiber) and no marrow fiber (C fiber) is reported all. The mechanism of the central nervous system is not clear. In late years type IV and the type V begin to be considered to be a model to overlap, and variation of NGFB may be proved in patients thought to be the type IV. In addition, there is the reported case [3] indicating the variation of SCN9A (Sodium Channel, Voltage-gated, αSubunit) indicating the phenotype that is the approximately same as type V. [1]
On the contrary, the study that is going to develop the pain-killer from a study of the NGF exists [4].
Symptom
I do not sweat without feeling a pain roughly on the street of the name. I cause various symptoms by thermesthesia, the sense of pain of the whole body disappearing. It has a serious influence on the real life of the patient that protective reaction by the thermal nociception lacks. It varies and is easy to be hurt at skin, soft tissue, osteoarticular and may be aggravated for injury unawares again. I include the damage (degeneration of the masticatory force it leads to dental caries, a taste disorder) of oral mucosa and the tongue, the cornea damage (it leads to an eyesight drop) of eyes, a burn and the frostbite of the whole body in skin, the injury of the soft tissue. Specifically, there is even an example biting off a tongue without knowing it. With the osteoarticular, a bone fracture, dislocation, osteonecrosis, joint destruction (Charcot joint) occur frequently mainly on lower limbs, and lower limbs function declines. As a result, walking ability greatly decreases. [1]
When there is a sweat drop with type IV in particular, it is severe. The affected child dying in medicine made of Isodon japonicus for the infant period is over brain fever before I can control the temperature. The sweat drop leads to the ulcerated formation of the skin.
In addition, I may be complicated with adjustment disorders, pervasive developmental disorder for mind development delay, and I am combined with a sense of pain drop, and a self-harm act may become the problem. It becomes the problem for a social life that not only oneself but also the understanding to a counterpart feeling a pain lacks. As a symptom of the autonomic nervous system, there is the patient indicating sleep disorder and periodic vomiting. In addition, the mechanism is unknown, but it is thought that easy infectibility exists.
That is why the exercise is impossible, and there is only the exercise without the temperature rise such as the swimming in the pool because of a temperature rise even if there is the underlying athletic capability at the same level as a physically unimpaired person. But it is necessary to be careful about hypothermia adversely in the pool.
Differential diagnosis
Similarly there is the example which entered a leper house by a misdiagnosis because I resemble the injury of remarkable hands and feet in Hansen's disease that the skin of the invaded part does not have a sense.
- There are fault and others, and (Non-leprosy) is the patient except the leper entering a leper house, the again name of disease. There are Lec ring how then disease, rheumatoid arthritis, a burn scar, PSS, systemic anaesthesia (the symptom of hands and feet is similar to Hansen's disease), solution-related hyperkeratosis.
Allied item
Footnote
- ^ a b c d Nobuhiko Haga and others. "130 congenital painless adiaphoresis" (PDF). December 27, 2015 reading.
- ^ Minde, Jan, et al. (2009). "A novel NGFB point mutation: a phenotype study of heterozygous patients." Journal of Neurology, Neurosurgery & Psychiatry 80 (2): 188-195.
- ^ Cox, James J., et al. (2006). "An SCN9A channelopathy causes congenital inability to experience pain" (PDF). Nature 444 (7121): It is reading 894-898 on f December 28, 2015. .
- ^ Hefti, Franz F., et al. (2006). "Novel class of pain drugs based on antagonism of NGF" (PDF). Trends in pharmacological sciences 27 (2): It is reading 85-91 on f December 29, 2015. .
References
- "It is <lecture series 06 髙嶋博＞ Hereditary neuropathic story hereditary kineticism, sensory autonomic nerve-related neuropathic clinical practice to help medical treatment, it is 957-959 pages, doi: in "clinical practice neurology" Vol. 54 twelfth, 2014 10.5692/clinicalneurol.54.957。
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