Al-Hroub Nurhan N, Al-Salahat Ala'a A, Taamreh Manwa A, Abunejma Fawzy M, Dukmak Osama N
Medicine, Al-Quds University, Bethlehem, PSE.
Pediatrics, Faculty of Medicine, Hebron University, Hebron, PSE.
Cureus. 2024 Sep 14;16(9):e69414. doi: 10.7759/cureus.69414. eCollection 2024 Sep.
Congenital insensitivity to pain (CIP) is an exceedingly rare autosomal recessive condition caused by Nav1.7 loss-of-function mutations. We present a case of a patient with clinical symptoms compatible with CIP who had a homozygous probable pathogenic variation, which results in a premature stop codon. According to the recommendations of the American College of Medical Genetics and Genomics, it is classified as probable pathogenic (class 2). Early detection and treatment may aid in reducing mortality and morbidity as the signs and symptoms of CIP with dysmorphic features manifest early, typically at birth or during infancy. However, with careful medical attention, affected individuals can have longer life expectancies.
先天性无痛觉（CIP）是一种极其罕见的常染色体隐性疾病，由Nav1.7功能丧失突变引起。我们报告了一例临床症状与CIP相符的患者，该患者存在一个纯合的可能致病变异，该变异导致了一个过早的终止密码子。根据美国医学遗传学与基因组学学会的建议，它被分类为可能致病（2类）。由于伴有畸形特征的CIP体征和症状通常在出生时或婴儿期就早期显现，早期检测和治疗可能有助于降低死亡率和发病率。然而，通过仔细的医疗护理，受影响个体可以有更长的预期寿命。
