Clinical characteristics of children with hypochondroplasia and analysis of FGFR3 gene variation
Objective To explore the clinical characteristics of children with hypochondroplasia(HCH)and the gene variation of fibroblast growth factor receptor 3(FGFR3).Method The clinical data,genetic test results and the therapeutic effect of recombinant human growth hormone(rhGH)in 7 children with HCH admitted to the First Affiliated Hospital of Air Force Military Medical University from January 2015 to October 2021 were analyzed retrospectively.Result The initial average age of the 7 children with HCH was(6.4±2.7)years(3.1-9.7 years),the average height standard deviation score was-3.22±1.22(-1.2--4.9),and the upper part/lower part ratio was 1.28±0.13(1.10-1.52).The average treatment time for rhGH was(4.4±1.2)years(3.1-6.0 years),the average age after treatment was(10.8±2.1)years(6.9-12.8 years),and the average height standard deviation score was-1.73±1.32(-3.4-0.2).The upper part/lower part ratio was 1.13±0.14(0.98-1.38).The clinical manifestations of HCH included disproportionate short stature(7/7,100％),limitation of elbow extension(2/7,28.6％),lumbar lordosis(2/7,28.6％),mild knee varus(2/7,28.6％),forehead bulge with relatively normal facies(1/7,14.3％).Radiological features of HCH included shortening of long bones with mild metaphyseal expansion(4/7,57.1％),narrowing of the inferior lumbar interpedicular distances(1/7,14.3％),and short and broad femoral neck(1/7,14.3％),square hip bone and flat acetabular top(1/7,14.3％),and the ischial notch becomes smaller(1/7,14.3％).There were pathogenic variants of FGFR3 gene in 7 cases,4 cases were variants of FGFR3 gene c.1620C＞A(p.Asn540Lys);3 cases were variants of FGFR3 gene c.1620C＞G(p.Asn540Lys).Conclusion Seven cases were hotspot variations of FGFR3 gene p.Asn540Lys.The clinical characteristics of HCH are relatively mild,and it is necessary to strengthen the understanding and screening of infants and young children.The treatment of rhGH for children with HCH was effective.
HypochondroplasiaFGFR3 geneGene variationRecombinant human growth hormoneAchondroplasia
万方数据
维普
