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.
2022
The Neurobiology, Physiology, and Psychology of Pain
9780128205891
NTRK1, Insensitivity to pain
02 Pubblicazione su volume::02a Capitolo o Articolo
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].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1616550
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