Summary points - Congenital insensitivity to pain is a rare autosomal recessive disease characterized by varying degrees of autonomic dysfunction and sensory loss, including nociceptive hyposensitivity. - The molecular genetic defect involves loss of function mutations in the NTRK1 gene, which encodes the tyrosine kinase receptor A gene. This autonomic dysfunction makes both general and neuraxial anesthesia challenging. - Testing the block during neuraxial anesthesia may be difficult, and the patient may be prone to hypotension and bradycardia.
A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis / Hajiesmaeil, Mogge; Yazarlou, Fatemeh; Sobhani, Maryam; Ghafouri-Fard, Soudeh. - (2022), pp. 13-21. [10.1016/B978-0-12-820589-1.00002-6].
A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis
Hajiesmaeil, Mogge
Primo
;
2022
Abstract
Summary points - Congenital insensitivity to pain is a rare autosomal recessive disease characterized by varying degrees of autonomic dysfunction and sensory loss, including nociceptive hyposensitivity. - The molecular genetic defect involves loss of function mutations in the NTRK1 gene, which encodes the tyrosine kinase receptor A gene. This autonomic dysfunction makes both general and neuraxial anesthesia challenging. - Testing the block during neuraxial anesthesia may be difficult, and the patient may be prone to hypotension and bradycardia.File | Dimensione | Formato | |
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