COL4A5 genotypes and clinical characteristics of children with Alport syndrome / 中国当代儿科杂志

OBJECTIVES@#To investigate the genotypes of the pathogenic gene COL4A5 and the characteristics of clinical phenotypes in children with Alport syndrome (AS).@*METHODS@#A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with COL4A5 gene mutations.@*RESULTS@#Among the 19 children with AS caused by COL4A5 gene mutations, 1 (5%) carried a new mutation of the COL4A5 gene, i.e., c.3372A>G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the COL4A5 gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the COL4A5 gene. Among all 19 children, 3 children (16%) who carried COL4A5 gene mutations also had COL4A4 gene mutations, and 1 child (5%) had COL4A3 gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset.@*CONCLUSIONS@#This study expands the genotype and phenotype spectrums of the pathogenic gene COL4A5 for AS. Children with large fragment deletion of the COL4A5 gene or double gene mutations of COL4A5 with COL4A3 or COL4A4 tend to have more serious clinical manifestations.

Serum osteoprotegerin level in children with nephrotic syndrome and the effect of glucocorticoid on it / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To observe serum osteoprotegerin (OPG) level in children with nephrotic syndrome (NS) and changes in serum OPG level after glucocorticoid therapy, with the aim of studying the role of OPG in the bone metabolism of children with NS.</p><p><b>METHODS</b>Forty-four children with idiopathic NS were randomly selected as the study group, including 24 newly diagnosed, untreated patients and 20 who had relapsed during the process of glucocorticoid reduction (cumulative dose of glucocorticoid 28327±5879 mg/m2). Twenty-three age- and sex-matched healthy children served as the control group. Serum osteoprotegerin (OPG) level was measured using ELISA. Serum N-terminal midfragment of osteocalcin (N-MID osteocalcin) was determined using electrochemical luminescence immunoassays (ECLIA).</p><p><b>RESULTS</b>Serum levels of OPG (211±55 ng/L) and N-MID osteocalcin (46±14 ng/mL) in the untreated NS group were reduced compared with 470±57 ng/L (OPG) and 73±9 ng/ml (N-MID osteocalcin) in the control group (P<0.05). Serum levels of OPG (176±42 ng/L) and N-MID osteocalcin (29±10 ng/mL) in the NS relapsed group were lower than in the untreated NS and control groups (P<0.05).</p><p><b>CONCLUSIONS</b>Bone metabolism disorders are found in children with NS. High-doses of glucocorticoid therapy can aggravate these disorders. Serum OPG levels in children with NS may be affected by both the renal disease itself and steroid therapy, suggesting that OPG is expected to become a new biochemical indicator for predicting changes to the bone metabolism of children with NS.</p>