Clinical Characteristics And Genetic Analysis Of 25 Cases Of Fanconi Anemia In Children

Objective: Analysis the features of clinical and genetic characteristics,and approach the prognosis of different treatments in FA children to provide reference for clinical practice.Methods: The clinical data of 25 FA children hospitalized in the Children’s Hospital of Chongqing Medical University from January 2012 to September 2019 were retrospectively analyzed to explore the relationships between clinical manifestations and gene,and to know the prognosis of different treatments.Results: In the 25 FA patients,the ratio of male to female was 1.08:1,32.0% had positive family histories of different kinds.The performance of first visit was mainly composed of pale(18/25,72.0%),bleeding(13/25,52.0%)and fever(4/25,16.0%).All the patients processed to BMF with an average age of 5 years and 5 months.There were 9 cases who manifested with congenital malformations,in which the finger deformity was the most common(6/9,66.7%).The degree of BMF in patients without malformations were more severe.After 6 months of treatment,it showed that children with malformations were more likely to progress.Patients older than 10 years old were more likely to suffer from endocrine diseases than those between 5 and 10 years old.The positive rate of chromosome breakage test was 55.0%(11/20),and it was higher in children with FANCA mutations than that of other subtypes’ mutations.Different treatments,including CsA with or without prednisone,CsA with stanozolol,stanozolol with or without prednisone and symptomatic and supportive treatment,made no difference through a 6-month therapy.6 patients underwent HSCT in our hospital,and the incidence rate of GVHD was 66.7%(4/6),5 of them regained hematopoietic function,while there was no significant difference in the survival time between transplantation and medication.Conclusion: Congenital malformations and BMF were common in FA children,and the blood routine should be monitored closely in all patients.We should pay more attention to the screening and treating of endocrine diseases in FA children older than 10 years old.Genetic examination was essential for FA diagnosis and the genomic instability in patients of FANCA mutations may be more serious,so treatments can be actively selected for patients with FANCA mutations.Although there is no significant difference in the effects among different treatments in the short term,hematopoietic function was restored in all the patients undergoing HSCT with a matched donor,so HSCT should be performed actively in patients with indications.