Screening and follow-up treatment of 160 046 neonates with congenital adrenal hyperplasia in Ningxia, China / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the incidence of congenital adrenal hyperplasia (CAH) and treatment outcomes in neonates in Ningxia, China.</p><p><b>METHODS</b>The clinical data of CAH screening for 160 046 neonates who were born in midwifery institutions in Ningxia from July 2014 to March 2016 were analyzed.</p><p><b>RESULTS</b>Among the 160 046 neonates who underwent CAH screening, 70 (0.044%) obtained a positive result and 11 were diagnosed with CAH; the incidence rate of CAH was 1/14 550 (0.069‰). Among the 11 neonates diagnosed with CAH, 9 had the salt wasting type (2 died) and 2 had simple virilization. The 9 neonates were given glucocorticoids immediately once diagnosed and all of them achieved good growth and development.</p><p><b>CONCLUSIONS</b>The incidence of neonatal CAH in Ningxia is 1/14 550. It is very necessary to carry out CAH screening in Ningxia, and active treatment can improve the prognosis of neonates with CAH.</p>

Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the type and frequency of mutations in exon 7 of phenylalanine hydroxylase (PAH) gene among children with phenylketonuria (PKU) in Ningxia, China and to provide a basis for the genetic diagnosis and prenatal diagnosis of PKU in this region.</p><p><b>METHODS</b>Direct sequencing of PCR product was performed to analyze the sequences of exon 7 and its flanking introns of 146 PAH alleles in 73 children with typical PKU (39 cases of Hui nationality and 34 cases of Han nationality) in Ningxia.</p><p><b>RESULTS</b>Six mutations were detected, including R243Q (14.4%), R241C (6.8%), IVS7+2T→A (2.7%), L255S (0.7%), G247V (0.7%), and G247R (0.7%). The overall frequency of mutations (missense mutation and splice site mutation) in exon 7 was 26.0% (38/146). The detection rate of R241C mutation was significantly higher in children of Hui nationality than in children of Han nationality(10% vs 3%; P<0.05).</p><p><b>CONCLUSIONS</b>In Ningxia, R243Q mutation in exon 7 of PAH gene is most common in children with PKU, followed by R241C. The frequency of R241C mutation in exon 7 of PAH gene varies between children with PKU of Hui and Han nationality.</p>

Growth status of children under 7 years in Wuzhong City, Ningxia Hui Autonomous Region, China and its influential factors / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the growth status of children under 7 years in Wuzhong City, Ningxia Hui Autonomous Region, China and its influential factors, and to provide a basis for related intervention measures.</p><p><b>METHODS</b>Children under 7 years were selected from two county-level districts in Wuzhong by stratified cluster sampling, and their growth status were evaluated by the Z score method.</p><p><b>RESULTS</b>The prevalence rates of growth retardation, underweight, and wasting were 12.58%, 5.71%, and 5.55% respectively. The height-for-age Z score, weight-for-age Z score, and weight-for-height Z scores were -0.26±2.50, 0.29±4.54. and 0.65±3.02 respectively. There were significant differences in the prevalence rate of wasting among children of different ethnic groups (P<0.05); also, there were significant differences in the prevalence rates of growth retardation and underweight among children from different regions and with different age (P<0.05). The main influential factors for growth retardation were region (OR=0.369, P<0.001), ethnic groups (OR=1.694, P=0.027), and age (OR=1.143, P=0.002). The main influential factors for underweight were region (OR=0.453, P=0.001) and age (OR=1.204，P=0.002). The main influential factor for wasting was nation (OR=1.735, P=0.024).</p><p><b>CONCLUSIONS</b>In Wuzhong, children under 7 years have poor growth status, which are related to ethnic groups, region, and age.</p>