Table of Content

15 January 2017 Volume 35 Issue 1

  

Investigation of physical growth in 115 infants with eczema

LIU Ying, XIAO Yizhu, HU Yan

. 2017, 35(1):  1.  doi:10.3969/j.issn.1000-3606.2017.01.001

Abstract ( 382 )   PDF (1263KB) ( 280 )  

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 To explore the physical growth in infants with eczema who treated with regular use of glucocorticoid. Methods A total of 115 full-term infants newly diagnosed with eczema were included in this study and treated with topical glucocorticoids regularly. The severity of eczema was assessed and anthropometric indices were measured regularly. Results Both weight for age (WAZ) and length for age (LAZ) at birth and 6-month-old were higher than those of World Health Organization (WHO) child growth standards. However, the LAZ at diagnosis and 3 months after treatment were lower than that of WHO child growth standards. The weight, length, and the growth rate from birth to the time of diagnosis were all lower than those of WHO child growth standards. While the growth rate after treatment for 3 to 6 months was higher than that of WHO child growth standards. The increases of WAZ and LAZ were significantly different among three periods: at birth to diagnose, at diagnosis to 3 months after treatment, and 3 months to 6 months after treatment (P<0.001). Conclusion In the early stage of eczema, the growth rate was decreased when the symptoms were not controlled. However, after treatment, the growth rate was increased. It is suggested that treatment of regular topical glucocorticoids has no adverse effects on growth of eczema infants, and also is beneficial to the catch-up growth of infants.

The clinical analysis of pulmonary injury in eight children with systemic lupus erythematosus

ZHANG Guangli, CHEN Ming, MENG Qingqing, TIAN Xiaoyin, WANG Longlun, LUO Zhengxiu

. 2017, 35(1):  5.  doi:10.3969/j.issn.1000-3606.2017.01.002

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 Objectives To analyze the clinical manifestation of pulmonary injury in children with systemic lupus erythematosus (SLE). Methods The clinical data of 8 SLE children with onset of respiratory symptoms as the first sign were retrospectively analyzed from January 2011 to December 2015. Results In these 8 children (4 females and 4 males) aged 6 - 15 years old. All of them presented cough, and 7 cases had fever, 5 cases had anhelation, 3 cases had hemoptysis, 3 cases had stethalgia, 3 cases had dyspnea and 3 cases had cyanosis. The types of pulmonary injury were pleural effusion in 5 cases (62.5%), acute lupus pneumonitis in 4 cases (50.0%), chronic interstitial pneumonia in 2 cases (25.0%), and pneumorrhagia in 2 cases (25.0%). In 7 children who performed chest high resolution CT examination, it showed that 5 cases had ground-glass shadow, 5 cases had pleural effusion, 5 cases had enlargement of mediastinum or lymph nodes, and 4 cases had segmental pulmonary consolidation. After treatment of the primary disease, the respiratory symptoms and pulmonary images were improved rapidly in 7 cases, and one case died of pneumorrhagia. Conclusion The clinical ministrations in SLE children with onset of respiratory symptoms as the first sign were not specific, and it was usually confused with respiratory infection. However, it usually had other organs involved and the chest imaging was more commonly showed groundglass shadow, segmental pulmonary consolidation, and pleural effusion.

Childhood IgA nephropathy combined with Alport syndrome: a report of 2 cases and literature review

CUI Jieyuan, ZHANG Hongwen

. 2017, 35(1):  9.  doi:10.3969/j.issn.1000-3606.2017.01.003

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Objective  To explore the diagnosis and differential diagnosis of IgA nephropathy. Methods  The clinical data of 2 children with IgA nephropathy were retrospectively analyzed. The pertinent literatures were reviewed. Results  In 2 males aged 6 and 7 years, the clinical features were a large amount of proteinuria (mainly albumin), low serum albumin, high cholesterol, and persistent microscopic hematuria, which were in line with the diagnosis of nephrotic syndrome. The effects of hormone and immunosuppressive therapy were poor. Renal pathology immunofluorescence and light microscopy findings were in accord with mild to moderate mesangial proliferative IgA nephropathy (M1E0S0T0). Electron microscope showed glomerular basement membrane lesions (layering, breakage, and uneven thickness), which could not exclude Alport syndrome. Further gene detection confirmed a pathogenic mutation of COL4A5. Conclusions  It is rare that IgA nephropathy is combined IgA nephropathy at the same time. Attention should by paid to those who had a poor effect of treatment or had a related family history in IgA patients because it is possible that IgA nephropathy and IgA nephropathy may occurred at the same time.

Autoimmune hepatitis in children: a case report and literature review

TANG Yunping, LIU Yan, HUANG Zhihua

. 2017, 35(1):  13.  doi:10.3969/j.issn.1000-3606.2017.01.004

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Objective To explore the early diagnosis and standard treatment of autoimmune hepatitis (AIH). Methods  The process of clinical diagnosis and treatment in 2 children with AIH was retrospectively analyzed. The related literatures were reviewed. Results Two males were 6 years and 1 month old and 6 monthes and 18 days old, respectively. Both of them had the symptom of jaundice at onset, accompanied with the elevate aminotransferase and positive autoantibodies. One case showed elevated serum IgG and interface hepatitis in liver pathology, and all other causes were excluded. He had a good response to the treatment of hormone combined with azathioprine. The other case had a poor response to the treatment of single hormone. Conclusions Childhood AIH is rare in clinic. Its response to the therapy of glucocorticoid and immune inhibitors is good. So it should be diagnosised and treated early.

The effect of fiberoptic bronchoscopy and bronchoalveolar lavage in the treatment of refractory Mycoplasma  pneumoniae pneumonia in children

WANG Juan, SUN Jun, GAO Changlong, LU Siguang

. 2017, 35(1):  16.  doi:10.3969/j.issn.1000-3606.2017.01.005

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 Objective To evaluate the clinical effects of fiberoptic bronchoscopy and bronchoalveolar lavage in the treatment of refractory Mycoplasma pneumoniae pneumonia. Method The clinical data of 55 children with refractory Mycoplasma pneumoniae pneumonia were retrospectively analyzed during February 2015 to February 2016. Results Among those 55 children, 30 cases who received the treatment of bronchoscopy and bronchoalveolar lavage were assigned to treatment group, and the other 25 cases were assigned to control group. 17 children in treatment group and 13 children in control group had lung lamellar shadow. After treatment, the improvement rates were 100% and 69.2% in treatment group and control group, respectively. There was significant difference between two groups (P=0.026). The total effective rate in treatment group was 96.7%, which was significantly higher than that of control group (64.0%) (P=0.006). The length of hospital stay were significantly shorter and average treatment fee were significantly lower in treatment group than those in control group (P<0.01). There were no severe adverse reactions in treatment group. Conclusion The effects of fiberoptic bronchoscopy and bronchoalveolar lavage with local application of drug were remarkable in the treatment of refractory mycoplasma pneumonia, and there were no severe adverse reactions.

Clinical assessment of catheterization for hemoptysis of pulmonary vascular abnormalities in children

KUANG Hongyu, CHENG Zhenli, LUO Li, LI Mi, WU Xiaoyun, BAI Yonghong, YI Qijian, TIAN Jie, LYU Tiewei

. 2017, 35(1):  19.  doi:10.3969/j.issn.1000-3606.2017.01.006

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 Objective To investigate the clinical characteristics of children with hemoptysis of pulmonary vascular abnormalities and to explore the diagnostic and therapeutic methods in perioperative period. Methods The clinical data and image features of 16 children with hemoptysis of pulmonary vascular abnormalities were retrospectively analyzed. The treatment plan and the effects were followed up and evaluated. Results There were 4 males and 12 females with 3 cases aged <1 year old, 13 cases aged 5 to 13 years old. Angiography confirmed that there were 13 cases (81.25%) of primary pulmonary collateral circulation, 1 case (6.25%) of pulmonary arteriovenous fistula, 1 case (6.25%) of bronchial artery pulmonary vascular fistula, and 1 case of unconfirmed type. Eleven cases received a catheter based therapy, one received abnormal vascular ligation under thoracoscope, one received the resection of part of the lung lobe, and 3 cases gave up the therapy. Among those 11 cases who received a catheter based therapy, 2 cases showed a little shunt by radiography immediately after the therapy, 3 cases showed recurrent hemoptysis within one year of therapy, all of these were aortic collateral circulation. Two cases treated by surgical had no recurrence. Conclusions Pulmonary vascular abnormality is one of the main causes of hemoptysis in children, and the main types was main pulmonary collateral circulation. Catheterization is still the first-line treatment for children with hemoptysis of pulmonary vascular abnormalities.

The features of nerve electrophysiology in children with Miller-Fisher syndrome

SUN Ruidi, JIANG Jun

. 2017, 35(1):  24.  doi:10.3969/j.issn.1000-3606.2017.01.007

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 Objective To explore the features of nerve electrophysiology in Miller-Fisher syndrome (MFS) in children. Methods Thirty-four children with MFS were selected. The examinations of routine motor sensory nerve conduction, H reflexes of soleus muscle and F wave of median and tibial nerevs were performed. At the same time, 33 healthy children of  the same age were selected as control group and 30 children with typical Guillain-Barre syndrome (GBS) selected as GBS group, which were compared with children with MFS. Results In children with MFS, routine motor nerve conduction velocity and amplitude, and sensory nerve conduction velocity were in normal range. Twelve cases (35.29%) showed a decrease in sensory nerve amplitude potential (SNAP), 5 cases (14.71%) showed sural sparing phenomena (the decline degrees of SNAP in median or ulnar nerve greater than in sural nerve), 22 cases (64.71%) showed abnormality of H reflex, and 12 cases (35.29%) showed the decline of SNAP. Compared with control group, there was no difference in sensory nerve conduction velocity and SNAP in sural nerve in children with MFS (P<0.05); While there were significant decreases in SNAP in both median nerve and ulnar nerve (P<0.05). Compared with GBS group, children with MFS had significantly higher sensory conduction amplitude and faster velocity (P<0.01). Conclusion A decrease of terminal sensory nerve conduction amplitude could be found in children with MFS, but, the SNAP had limited impact on it. H reflex abnormality is the most common electrophysiologic abnormalities in MFS.

Bardet-Biedl syndrome: a case report and literature review

CHEN Yao, LI Juan, WANG Jian, LI Niu,SHEN Yiping, HUANG Xiaodong, SHEN Yongnian, WANG Xiumin

. 2017, 35(1):  28.  doi:10.3969/j.issn.1000-3606.2017.01.008

Abstract ( 438 )   PDF (1491KB) ( 560 )  

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Objective To enhance the understanding of the clinical features and the genetic features of Bardet-Biedl syndrome. Method The clinical and laboratory data and gene detection results from one child with Bardet-Biedl syndrome were retrospectively analyzed. The related literatures were reviewed. Results Thirteen years old boy, clinically manifested polydactylism, retinitis pigmentosa, gonadal dysgenesis, obesity, mental retardation, cystic renal dysplasia, chronic renal insufficiency, impaired glucose tolerance, hypospadias, fatty liver, anemia, and short stature. High-throughput sequencing showed a homozygosis of c.1148_1149dupTC, p.His384Serfs*34 in BBS2 gene, and the locus was heterozygote in both of his parents. Conclusion The molecular diagnosis by high-throughput sequencing is helpful in the diagnosis of Bardet-Biedl syndrome. The BBS2 gene variation has not been reported in the database of HGMD, ExAC, or ClinVar, and it is the new discover at home and abroad.

Gitelman syndrome caused by SLC12A3 gene mutations: a report of pedigree analysis

YANG Yang, XIAO Jihong

. 2017, 35(1):  33.  doi:10.3969/j.issn.1000-3606.2017.01.009

Abstract ( 585 )   PDF (1342KB) ( 642 )  

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 Objective To explore the gene diagnosis of Gitelman syndrome. Methods The clinical data of a child with Gitelman syndrome were retrospectively analyzed along with gene detection results of his elder sister and parents. Results A 6-year-old boy was hospitalized for fever and hypokalemia. Gene detection of SLC12A found a new locus mutation of EXON21 c.2522A>G p.(Asp841Gly) and a heterozygosis of EXON16 c.1946C>T p.(Thr649Met). The diagnosis of Gitelman syndrome was confirmed. His mother carried a heterozygosis mutation of EXON21 c.2522A>G p.(Asp841Gly), while his father and elder sister carried a heterozygosis mutation of EXON16 c.1946C>T p.(Thr649Met). Conclusion Gene detection of SLC12A is helpful in the diagnosis of Gitelman syndrome. The newly discovered mutation of SLC12A3 gene has enriched the mutation spectrum of Gitelman syndrome.

Biotinase deficiency manifested as encephalomyelopathy: a case report and literature review

MA Xiuwei, HOU Yu, GU Ruijie, FENG Zhichun

. 2017, 35(1):  37.  doi:10.3969/j.issn.1000-3606.2017.01.010

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Objective To explore the diagnosis and treatment of biotinase deficiency (BTD) manifested as encephalomyelopathy. Methods The clinical data of one child with BTD were retrospectively analyzed. The pertinent literatures were reviewed. Results A six-year-old male child suffered from progressive spastic paralysis of lower limbs for 3 months before admission. A similar symptoms occurred after a cold in 3-year-old. It was easy to peel skin on her hands and she had angular stomatitis. Audio visual evoked potential was detected to be abnormal  in other hospital. After hospitalizion, the cerebrospinal fluid examination was normal, and MRI showed long T1 long T2 signals bilateral occipital lobe and basal ganglia region . Because the child represented medulla palsy, and so the tracheal intubation ventilator was administrated to assist ventilation. Urine gas chromatography/mass spectrometry (GC/MS) analysis showed increases of lactic acid, 3-hydroxy acid, 3-tiglyl glycine, methylcitric acid, and ethylene lactic acid. Serum MS/MS analysis showed that the concentrations of propionyl carnitine and 3-hydroxyisovaleryl carnitine were increase obviously. The serum biotinase level was significantly decrease to 0.076 pmol/( min•mm3). The diagnosis of BTD was confirmed. After supplementation biotin , 40 mg/d, the ventilator was successfully weaned on the third day, the child walked again after 2 weeks, and the rash was vanished. After 3 weeks, the head MRI showed disappearance of the original lesion, and there was no abnormal in spinal cord. The BTD gene detected by PCR direct sequencing showed a heterozygosis mutation of T172T/C in the second exon and a homozygous mutation of T1413C in the fourth exon, which was confirmed as a pathogenic mutation by pedigree verification and database query. After discharge, the oral administration of biotin 20 mg/d continued, and no abnormality was found in 2 years of follow-up. Conclusions The manifestations of BTD are complex and diverse. The analysis of urine GC/MS and serum MS/MS can assist the diagnosis. The determination of biotinase activity and gene detection of BTD can further confirm the diagnosis. Timely biotin supplementation has significant treatment efficacy.

Clinical features of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome in twin brothers

YANG Li, LI Yufen, XU Liyun, QIU Shiyan, SUN Shaoxia, ZHANG Piqiang, XIA Bing

. 2017, 35(1):  42.  doi:10.3969/j.issn.1000-3606.2017.01.011

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Objective To explore the clinical features of mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS) syndrome in fraternal twins brothers. Methods The clinical data, the results of laboratory examinations, electroencephalogram (EEG), imaging, and gene detection, and the process of diagnosis and treatment were retrospectively analyzed the fraternal twin brothers with MELAS syndrome. Results The proband, a 7-year-old male, had intermittent headaches, vomit and twitching at onset. He suffered from exercise intolerance, fatigue, accompanied by short stature and hairy. The fasting blood lactic acid level was increased. Multiple video EEG showed the slowdown of background activity. Head MRI showed recurrent lesions with the characteristics of migration and variation. The point mutation rate of mtDNA A3243G was 34.7%. The diagnosis of MELAS was confirmed. At the same time, his fraternal twin brother was screened and found that his point mutation rate of A3243G was 30.0%. Although there was no clinical symptom at that time, he was onset with convulsion after 3 years. Conclusions Gene detection and family screening are helpful for the early diagnosis of MELAS. The mutation rate of A3243G is very high, which can cause an early onset and serious clinical symptoms.

Tuberous sclerosis and Langerhans cell histiocytosis combined with secondary hemophagocytic lymphohistocytosis in infancy: a case report

CHEN Fen, SUN Yan, LUO Xinhui

. 2017, 35(1):  46.  doi:10.3969/j.issn.1000-3606.2017.01.012

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 Objective To explore the diagnosis of tuberous sclerosis (TSC) combined with Langerhans cell histiocytosis (LCH) and secondary hemophagocytic lymphohistocytosis (HLH). Methods One case diagnosed of TSC combined wiht LCH and secondary with HLH in infancy was retrospectively analyzed. Results One year and 4-month-old Uyghur boy when he was 4-month-old, there was onset of infantile spasm. Gene detection was performed when he was one year old and showed the absence of the exon 3 to 10 of TSC2 gene. The diagnosis of TSC was confirmed. Meanwhile, the boy also suffered with skin rash all around, fever, hepatosplenomegaly, and bone defect. The diagnosis of LCH was confirmed by skin biopsy.  In addition, the boy was complicated HLH. Conclusions It is rarely seen that TSC combined with LCH, and secondary HLH in one case. The clinical features were complex and need to be differetiate.

Mycobacterium tuberculosis infection in a child with thalassemia after allogeneic hematopoietic stem cell transplantation: a case report and literature review

LI Jing, LAI Yongrong

. 2017, 35(1):  50.  doi:10.3969/j.issn.1000-3606.2017.01.014

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 Objective To explore the diagnosis and treatment of Mycobacterium tuberculosis infection in a child with severe β Mediterranean anemia after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Methods The clinical data of a child with severe β mediterranean anemia who had Mycobacterium tuberculosis after allo-HSCT were retrospectively analyzed. The pertinent literatures were reviewed. Results Six-year-old girl with mediterranean anemia was infected by Mycobacterium tuberculosis after allo-HSCT. After anti tuberculosis treatment by HRZE (isoniazid, rifampicin, pyrazinamide and ethambutol), the condition was improved. Conclusion It is rare of Mycobacterium tuberculosis infection after allo-HSCT, which needs timely diagnose and treatment.

Clinical features and genetic analysis of Dent disease in 6 children

SUN Jianxin, HAO Sheng, SUN Liwen, KUANG Xinyu, WU Ying,ZHU Guanghua, HE Weixun, HUANG Wenyan

. 2017, 35(1):  54.  doi:10.3969/j.issn.1000-3606.2017.01.015

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Objective To explore the early diagnosis, treatment and prognosis of Dent disease. Method The clinical data of 6 children with Dent disease were retrospectively analyzed from January 2013 to December 2015. Results in 6 male chilren aged 3-10 years old, all of the children didn't have amino acid urine, urine glucose, or low potassium, while suffered with nephrocalcinosis. Two children had family history of proteinuria, one case was combined with microscopic hematuria, one showed glomerular focal segmental sclerosis (FSGS) in renal pathology, and one case accompanied with rickets and renal insufficiency. Two children were performed the gene detection and it showed the gene mutation site at c.731C>T (p.Ser244Leu) and c.848C>T(p.Pro283Leu) respectively. During the follow-up, the renal function was stable among all of the children. Conclusions The classical symptoms of Dent disease were low molecular weight proteinuria, hypercalcinuria, renal calcification, and so on. Gene detection is helpful in early diagnosis. Early diagnosis and treatment can improve the prognosis.

The correlation of virulence genes and antibiotic resistance in Helicobacter pylori isolates in children

ZHANG Shuanghong, XIE Yong, LI Bimin, LIU Dongsheng, WAN Shenghua, LUO Lijuan, LI Hong, YI Lijun, ZHOU Jing, ZHU Xuan

. 2017, 35(1):  59.  doi:10.3969/j.issn.1000-3606.2017.01.016

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Objective To explore the relationship between virulence genes and antibiotic resistance in Helicobacter pylori (H. pylori) isolates in children. Methods The stains of H. pylori were isolated from antral mucosa in 90 pediatric patients with upper gastrointestinal symptoms. E-test and K-B test were used to detect the antibiotic resistance of H. pylori isolates. PCR was performed to detect the cagA, vacA and iceA genes of H. pylori. Results Among these 90 strains of H. pylori isolated from antral mucosa, there were 8 strains (8.9%) resistant to clarithromycin, 31 strains (34.4%) resistant to metronidazole, 12 trains (13.3%) resistant to clarithromycin and metronidazole, and 39 strains (43.3%) not resistant to antibiotics. There were no strains  resistant to amoxicillin or furazolidone. The positive detection rate of cagA gene, vacAs1a, vacAs1c, vacAm1, and vacAm2 genes were 93.3% (84/90), 77.8% (70/90), 22.2% (20/90), 32.2% (29/90), and 67.8% (61/90), respectively. The positive detection rates of vacAs1a/m1, vacAs1a/m2, vacAs1c/m1, and vacAs1c/m2 genes were 30.0% (27/90), 51.1% (46/90), 3.3% (3/90), and 16.7% (15/90), respectively. The positive detection rates of iceA1 and iceA2 genes were 87.7% (79/90) and 7.8% (7/90), respectively. There was no difference in positive detection rate of H. pylori virulence genes among clarithromycin resistance group, metronidazole resistant group, clarithromycin and metronidazole double resistance group and antibiotics sensitive group (P > 0.05). Conclusion There was no relationship between virulence gene and antibiotic resistance in H. pylori clinical isolates in children.

The influence and significances of ghrelin on growth and cardiac function in infants with congenital heart disease

Reviewer: LI Hao, Reviser: ZHU Lingling

. 2017, 35(1):  64.  doi:10.3969/j.issn.1000-3606.2017.01.017

Abstract ( 321 )   PDF (1146KB) ( 266 )  

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 The ghrelin is an endogenous ligand of the growth hormone (GH) secretagogue receptor, which can regulate the secretion of GH, stimulate the appetite, adjust the energy metabolism, and improve the cardiovascular function. Children with congenital heart disease (CHD) usually suffered from malnutrition and growth retardation, which were connected with insufficiency of energy intake, poor absorption, and increase of nutritional requirement, anatomy and the changes of hemodynamics. Many infants with CHD gradually present ventricular dysfunction and growth restriction in their early childhood, which consequently lead to severe complications. Ghrelin is valuable in  the early detection of potential CHD, plays an important role in improving the state of malnutrition and protecting the cardiac function, and provides an important reference to explore the new drug therapy for CHD. This review summarized the effects and significances of ghrelin on growth and cardiac function in infants with CHD.

Research progress of pediatric epilepsy combined with depression

Reviewer: CAI Lun, QIN Mingfang

. 2017, 35(1):  69.  doi:10.3969/j.issn.1000-3606.2017.01.018

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The morbility of depression in epilepsy patients is relatively high, and children and adolescents are the main population of epilepsy. Because of the specific physical and mental development in children and adolescents, the incidence and medication in these population have their own characteristics. This paper reviews the research progress of the effects, causes, features, and interventions of epilepsy combined with depression in children and adolescents.