Laboratory medicine · 2026
Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Sierra-Rivera Antonio, Esteve-Martínez Altea, Ballesteros-Cogollos Virginia, Aparisi-Domingo Xavi, Montesinos-Sanchís Elena, Fábregat-Cid Gustavo, Llena-Puy Carmen, Rodríguez-López Raquel
Аннотация
INTRODUCTION: Congenital insensitivity to pain with anhidrosis (CIPA), caused by biallelic pathogenic variants in the NTRK1 gene, is a rare disorder characterized by the loss of pain sensation, anhidrosis, and impaired temperature regulation.
METHODS AND RESULTS: We present a clinical case of a 2-year-old male Chinese patient, compound heterozygous for 2 NTRK1 pathogenic variants-c.851-33T>A and c.1805G>A-confirmed by clinical exome sequencing. The patient exhibited classic CIPA symptoms, including recurrent fever episodes, xerotic skin, sparce hair, abnormality of the dentition, and anhidrosis. The child also displayed preserved fine touch but lacked pain response to stimuli, emphasizing the clinical challenges posed by pain insensitivity, including an increased risk of injury. Multidisciplinary management approach involving dermatology, pediatrics, pediatric neurology, pediatric dentistry, pain management, and genetics was coordinated.
DISCUSSION: This case reinforces the importance of early diagnosis and lifelong palliative care to prevent complications and manage symptoms. In addition, this report highlights the higher prevalence of CIPA in Asian populations and the need for ongoing research to explore potential therapeutic interventions targeting pain perception and neurodevelopmental pathways.
METHODS AND RESULTS: We present a clinical case of a 2-year-old male Chinese patient, compound heterozygous for 2 NTRK1 pathogenic variants-c.851-33T>A and c.1805G>A-confirmed by clinical exome sequencing. The patient exhibited classic CIPA symptoms, including recurrent fever episodes, xerotic skin, sparce hair, abnormality of the dentition, and anhidrosis. The child also displayed preserved fine touch but lacked pain response to stimuli, emphasizing the clinical challenges posed by pain insensitivity, including an increased risk of injury. Multidisciplinary management approach involving dermatology, pediatrics, pediatric neurology, pediatric dentistry, pain management, and genetics was coordinated.
DISCUSSION: This case reinforces the importance of early diagnosis and lifelong palliative care to prevent complications and manage symptoms. In addition, this report highlights the higher prevalence of CIPA in Asian populations and the need for ongoing research to explore potential therapeutic interventions targeting pain perception and neurodevelopmental pathways.