Zhongguo shi yan xue ye xue za zhi · 2026
[Analysis of Clinical Features and Gene Mutation in Children with Hereditary Coagulation Factor Deficiency].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Meng Qing-Jie, You Juan, Shen Xin, Guo Wei Na, Wu Huan, Zhao Pei-Wei, Xiang Yun
Аннотация
OBJECTIVE: To analyze the clinical features, laboratory tests and gene mutations of children with hereditary coagulation factor deficiency, and explore the correlation between gene mutations and clinical phenotypes.
METHODS: The clinical data of 34 children with hereditary coagulation factor deficiency were reviewed, and high-throughput sequencing was used to detect pathogenic genes.
RESULTS: Among the 34 children, there were 32 males and 2 females, with a median age of 1.65 years (from 2 days to 11 years). There were 28 cases that had bleeding symptoms, including 11 cases of oral and nasal bleeding, 21 cases of mucocutaneous bleeding, 3 cases of intracranial bleeding, 4 cases of joint bleeding, 3 cases of gastrointestinal bleeding, 6 cases of surgical or traumatic bleeding. Four cases had a family history. Laboratory tests showed significant prolongation of prothrombin time or activated partial thromboplastin time. Among the 25 children with hemophilia A, there were 9 mild cases, 9 moderate cases, and 7 severe cases. There were 4 cases with intron 22 inversion in severe hemophilia A, while mild cases were mainly characterized by missense mutations. There were 4 cases with F Ⅸ gene mutations, 2 cases with F Ⅶ gene mutations, 2 cases with F Ⅺ gene mutations, and 1 case with F Ⅻ mutation. The F Ⅺ variant c.1036T>C (p.C346R) and F Ⅻ variant c.115+2T>A were novel mutations that had not been reported.
CONCLUSION: Most patients with hereditary coagulation factor deficiency have a bleeding tendency, and gene test is important for diagnosis and prognostic evaluation of the disease.
METHODS: The clinical data of 34 children with hereditary coagulation factor deficiency were reviewed, and high-throughput sequencing was used to detect pathogenic genes.
RESULTS: Among the 34 children, there were 32 males and 2 females, with a median age of 1.65 years (from 2 days to 11 years). There were 28 cases that had bleeding symptoms, including 11 cases of oral and nasal bleeding, 21 cases of mucocutaneous bleeding, 3 cases of intracranial bleeding, 4 cases of joint bleeding, 3 cases of gastrointestinal bleeding, 6 cases of surgical or traumatic bleeding. Four cases had a family history. Laboratory tests showed significant prolongation of prothrombin time or activated partial thromboplastin time. Among the 25 children with hemophilia A, there were 9 mild cases, 9 moderate cases, and 7 severe cases. There were 4 cases with intron 22 inversion in severe hemophilia A, while mild cases were mainly characterized by missense mutations. There were 4 cases with F Ⅸ gene mutations, 2 cases with F Ⅶ gene mutations, 2 cases with F Ⅺ gene mutations, and 1 case with F Ⅻ mutation. The F Ⅺ variant c.1036T>C (p.C346R) and F Ⅻ variant c.115+2T>A were novel mutations that had not been reported.
CONCLUSION: Most patients with hereditary coagulation factor deficiency have a bleeding tendency, and gene test is important for diagnosis and prognostic evaluation of the disease.