Floating-Harbor syndrome: a case report and literature review / 中国当代儿科杂志

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.

Changes in 25-hydroxyvitamin D3 level in children with Henoch-Schönlein purpura / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To examine the changes in 25-hydroxyvitamin D[25-(OH)D] level in children with Henoch-Schönlein purpura (HSP) and its clinical significance.</p><p><b>METHODS</b>A total of 92 HSP children were included in this study, and were divided into HSP nephritis (HSPN) group (31 cases) and HSP group (61 cases) based on the presence or absence of HSPN. Alternatively, the patients were divided into purpura alone group (22 cases), purpura with joint symptoms group (joint symptom group, 24 cases), purpura with gastrointestinal symptoms group (gastrointestinal symptom group, 20 cases), and purpura with joint and gastrointestinal symptoms (mixed group, 26 cases) based on their clinical symptoms. In addition, 42 healthy children were selected as healthy control group. The level of 25-(OH)Din each group was measured using enzyme-linked immunoassay.</p><p><b>RESULTS</b>The 25-(OH)Dlevel in the HSP and HSPN groups was significantly lower than that in the healthy control group (P<0.05), and the 25-(OH)Dlevel in the HSPN group was significantly lower than that in the HSP group (P<0.05). Although there was no significant difference in the 25-(OH)Dlevel between the joint symptom, gastrointestinal symptom, and mixed groups (P=0.22), the 25-(OH)Dlevel in the three groups was all significantly lower than that in the purpura alone group (P<0.05).</p><p><b>CONCLUSIONS</b>The level of 25-(OH)Dis reduced in children with HSP, particularly those with HSPN or with joint and gastrointestinal symptoms. Therefore, the reduction in 25-(OH)Dlevel may serve as a predictor of whether HSP is associated with other impairments.</p>

Changes in 25-hydroxyvitamin D3 level and its significance in children with Kawasaki disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the changes in the serum level of 25-hydroxyvitamin D3 [25-(OH)D3] and its significance in children with Kawasaki disease (KD).</p><p><b>METHODS</b>The clinical data of 242 KD children were collected. According to the presence or absence of coronary artery lesion (CAL), these children were classified into CAL group (63 children) and non-CAL (NCAL) group (179 children). According to the efficacy of intravenous immunoglobulin (IVIG), these children were classified into IVIG-sensitive group (219 children) and no-IVIG-response group (23 children). A total of 40 healthy children (control group) and 40 children with acute upper respiratory tract infection (AURI group) were enrolled as controls. Enzyme-linked immunosorbent assay was applied to measure the serum level of 25-(OH)D3.</p><p><b>RESULTS</b>Before IVIG treatment, the AURI, NCAL, and CAL groups had significantly lower serum levels of 25-(OH)D3 than the control group (P<0.05); the CAL group had a significantly lower serum level of 25-(OH)D3 than the AURI and NCAL groups (P<0.05); the AURI, IVIG-sensitive, and no-IVIG-response groups had significantly lower serum levels of 25-(OH)D3 than the control group (P<0.05); the no-IVIG-response group had a significantly lower serum level of 25-(OH)D3 than the AURI and IVIG-sensitive groups (P<0.05). After IVIG treatment, the CAL group had a significantly lower serum level of 25-(OH)D3 than the NCAL and control groups (P<0.05); the no-IVIG-response group had a significantly lower serum level of 25-(OH)D3 than the IVIG-sensitive and control groups (P<0.05).</p><p><b>CONCLUSIONS</b>KD children may experience a reduction in the serum level of 25-(OH)D3. With a greater reduction in the serum level of 25-(OH)D3, the possibility of CAL and KD with no response to treatment increases.</p>