Hereditary sensory and autonomic neuropathy type IV
| Classification according to ICD-10 | |
|---|---|
| G60.0 | Hereditary sensorimotor neuropathy type I-IV |
| ICD-10 online (WHO version 2019) | |
The congenital insensitivity to pain with anhidrosis , short HSAN IV, is an extremely rare genetic disease from the group of primary neuropathies . The disease was first described in 1963. In English-speaking countries, hereditary sensory and autonomic neuropathy is also referred to with the acronym CIPA for "congenital insensitivity to pain and anhidrosis". So far, fewer than 100 cases have been documented worldwide.
clinic
In the English-language name, the main symptoms are mentioned: the clinical focus is already at birth on a considerable disturbance of the pain and temperature senses as well as anhidrosis . The disturbance of the pain and temperature senses leads to burns and injuries; self-harm was also described. Due to the lack of perspiration, thermoregulation is disturbed and hyperthermia can occur. The symptoms usually only appear late in the first year of life, as the CIPA syndrome, unlike many other diseases, does not make itself felt through pain, but rather through its absence. Affected children therefore do not complain of pain, but rather are perceived as calm. The disease is only noticeable if the child does not react to an obvious injury or injures themselves. It can also lead to strong, inexplicable bouts of fever.
diagnosis
CIPA syndrome can be diagnosed using neuropathological tests or an analysis of the NTRK1 gene. Examining the sweat glands is only helpful because they are not innervated. However, the structure of the sweat glands is unchanged.
genetics
The inheritance of the disease is heterogeneous, the syndrome is inherited as an autosomal recessive trait. In most cases, this is due to a mutation in the NTRK1 gene, which codes for a tyrosine kinase receptor from the neurotrophin receptor family . The gene plays an important role in the growth factor of certain neurons. This growth factor is a nerve growth factor ( nerve growth factor , known NGF). Thus, the gene is critically involved in the development and survival of the nociceptoric nervous system. Since the sweat glands are innervated in the nociceptoric nervous system, the NTRK1 gene also affects the regulation of body temperature through sweat secretion. The disease is of great scientific interest, since this genetic defect shows that the NTRK1 receptor is involved in the development and function of pain perception and sweat regulation.
Individual evidence
- ↑ Ennio Toscano et al.: Hereditary sensory and autonomic neuropathy type IV. In: Orphanet Encyclopedia. 2003 (English-language comprehensive review in Orphanet [1] )
- ^ Swanson AG: Congenital insensitivity to pain with anhidrosis. In: Arch Neurol. 1963; 8, pp. 299-306. PMID 13979626 .
- ↑ Molecular genetics in about 80 cases. Source: Hereditary sensory and autonomic neuropathy type 4 on orphanet
- ^ Y. Indo et al .: Mutations in the TRKA / NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. In: Nat Genet. 1996; 13 (4), pp. 485-488. PMID 8696348 .
