Congenital insensitivity to pain with anhidrosis: A case report and literature review / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 1203-1208, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-813029
ABSTRACT
To analyze the clinical manifestations and gene mutations in children with congenital insensitivity to pain with anhidrosis (CIPA), and review related literature. An infant diagnosed with congenital insensitivity to pain with anhidrosis was reported. The main clinical manifestations of the infant were painless, no sweat, and repeated fever. Peripheral blood of the infant and his parents was collected, and candidate variants were confirmed by Sanger sequencing. The results of molecular genetic analysis showed that there were compound heterozygous mutations (c.36G>A, c.851-33T>A) of neurotrophic tyrosine kinase receptor type 1 (NTRK1) in the infant. c.36G>A and c.851-33T>A were inherited from his father and mother, respectively. c.851-33T>A is a previously reported mutation, c.36G>A is an unreported mutation, which can lead to the tryptophan changing into a stop codon. According to the American College of Medical Genetics and Genomics (ACMG) variant interpretation guidelines, the mutation is interpreted as pathogenic, and the biological hazard is potentially harmful. Congenital insensitivity to pain with anhidrosis is a rare inherited disorder. Genetic molecular genetic analysis is helpful to diagnose and discover new gene mutations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Insensibilidade Congênita à Dor
/
Receptor trkA
/
Canalopatias
/
Mutação
Tipo de estudo:
Guia de Prática Clínica
Limite:
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2019
Tipo de documento:
Artigo
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