Korpysz Alicja, Szalecki Mieczysław
Outpatient Clinic of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland.
Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland.
Pediatr Endocrinol Diabetes Metab. 2019;25(4):188-193. doi: 10.5114/pedm.2019.91547.
Genetic causes of IUGR: The IGF 2 gene encoding IGF2 synthesis contributes to growth of the foetus. The maternal genes PHLDA2, GRB10, and placental ALS also play a role in the regulation of foetal growth. CDKN1C mutation can lead to IUGR. In SRS syndrome, apart from epimutation 11p15 and disomy 7, the cause may be a mutation of HMAGA2-PLAG1-IGF2 genes. Growth deficiency: in 10% of children with IUGR with growth deficiency, ACAN gene mutation (aggrecan gene) was described. Children with IUGR and with dynamic evolution of puberty can achieve better final growth through combined therapy with GH and GnRH analogues. Insulin resistance: In light of new reports, oxidative stress during pregnancy, epigenetic regulation in the foetal period in children with IUGR, and insulin resistance both peripheral and central during catch up growth" are observed.
编码胰岛素样生长因子2(IGF2)合成的IGF2基因有助于胎儿生长。母体基因PHLDA2、GRB10和胎盘ALS在胎儿生长调节中也起作用。细胞周期蛋白依赖性激酶抑制剂1C(CDKN1C)突变可导致宫内生长受限。在Silver-Russell综合征(SRS综合征)中,除了11p15位点的表观遗传突变和7号染色体三体性外,病因可能是HMAGA2-PLAG1-IGF2基因的突变。生长缺陷:在10%患有生长缺陷的宫内生长受限儿童中,发现了聚糖蛋白聚糖基因(ACAN基因)突变。患有宫内生长受限且青春期发育动态变化的儿童,通过生长激素(GH)和促性腺激素释放激素(GnRH)类似物联合治疗可实现更好的最终身高增长。胰岛素抵抗:根据新的报道,观察到孕期氧化应激、宫内生长受限儿童胎儿期的表观遗传调控以及追赶生长期间外周和中枢的胰岛素抵抗。