Table of Content

15 October 2016 Volume 34 Issue 10

  

Detection of biomarkers and its clinical significance in the inflammatory bowel disease in Children

YANG Hui, JIN Yu, LI Mei, HAO Lihua

. 2016, 34(10):  721.  doi:10.3969/j.issn.1000-3606.2016.10.001

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Objective To investigate the biological markers and their clinical significance in diagnosis and differential diagnosis of inflammatory bowel disease (IBD) in children. Methods The study had 22 cases of IBD including 6 cases of ulcerative colitis (UC) and 16 cases of Crohn’s Disease (CD). Twenty-four children without IBD were selected as controls. The serum perinuclear anti-neutrophil cytoplasmic antibody (pNACA) was measured by indirect immune fluorescence method. The serum anti-saccharomyces cerevisiae antibody (ASCA) IgG and IgA, anti-B mannose glycoside antibody (AMCA) IgG, anti-B glycoside sugar shell antibody (ACCA) IgA, Anti-bacterial flagellin antibody (Anti-cBir1) IgG, and the fecal calprotectin (FC) were determined by Enzyme linked immunosorbent assay (ELISA). Results The positive rate of serum pANCA was 100% in 6 cases of UC while it was negative in CD cases and control, and there was significant difference among three groups (P < 0.01). In CD cases, both positive rate of serum ACCA IgA and that of Anti-cBir1-IgG were 62.5% and the positive rate of ACCA IgA was 37.5%. Meanwhile, all of them were negative in UC cases and control. There were significant differences among three groups (P<0.01). The positive rate of FC was 100% in children with IBD. It was significantly higher than the positive rate in control group, 54.2% (P < 0.01). Conclusion The serum pANCA is a specific index for the diagnosis of UC. The serum ACCA IgA, AMCA IgG, ASCA IgG and IgA, and Anti-cBir1 IgG were specific to some extent in the diagnosis of CD. Increased FC can reflect the activity of IBD, but cannot be used for the differential diagnosis of IBD and non IBD.

Comparison of the quality of life before and after treatment of eczema in infants with or without food allergies

WANG Li, WANG Nianrong

. 2016, 34(10):  726.  doi:10.3969/j.issn.1000-3606.2016.10.002

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Objective To explore life quality of infants with eczema and their families before and after treatment. Methods The infants with eczema were divided into food allergic group (FA group, n=46) and non-food allergic group (N-FA group, n=47). The eczema was evaluated by the areas of eczema and severity index (EASI). After 2 months of standardized intervention, the quality of life before and after treatment were assessed by the Food Allergy Quality of Life Questionnaire-Parent Form (FAQLQ-PF) and the Infant’s Dermatitis Quality of Life Index (IDQOL). Results There was no difference between the two groups in age, gender, family history of allergy and feeding patterns (all P ＞  0.05). In FA group, there were 34 cases (73.91%) of egg allergy, 20 cases (43.48%) of milk allergy and 2 cases (4.35%) of carrot allergy. After the intervention, the scores of EASI, FAQLQ, and IDQOL were decreased obviously in the two groups, and there were statistical difference before and after treatment ( P all < 0.05). Before treatment, the total score and each part of FAQLQ-PF in FA group was similar with N-FA group ( P all ＞  0.05); After two months of intervention, the total score of FAQLQ in FA group was higher than that in N-FA group (Z =2.83, P =0.005); the subscales of emotional impact, anxiety about food, and social/dietary restrictions were also significantly different between FA group and N-FA group (Z = 2.13-2.89, all P < 0.05). Conclusions Parents of infants with food allergies are more likely to worry about infant's emotional changes and social, dietary restrictions. FAQLQ-PF is more specific for assessing the quality of life in food allergies.

Clinical features of biliary pancreatitis in children

WANG Zhihua, WANG Yushui

. 2016, 34(10):  730.  doi:10.3969/j.issn.1000-3606.2016.10.003

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Objective To explore the clinical characteristics of biliary pancreatitis in children. Methods The clinical data from 10 children with biliary pancreatitis from January 2011 to July 2015 were retrospectively analyzed. Result In 10 children (2 males and 8 females), the average age was 6.1?±?4.9 years old, and the average hospital stay was 8.4?±?3.8 d. There were 4 cases of gallstone, 4 cases of cholestasis, 2 cases of calculus of bile duct, 2 cases of choledochocyst and 1 case of pancreatic divisum. Abdominal pain was the main clinical manifestation in these 10 children. All of them had elevated serum amylase, with the maximum value of 106-922 U/L. Six cases had elevated lipase of 22-2000 U/L. Six cases had abnormal serum alanine aminotransferase. Two cases had hypokalemia. One case had hypoglycemia. Four cases had acid-base imbalance. Abdominal ultrasonography showed pancreatitis in 4 cases. CT showed pancreatitis in all children. All of the children were treated by fasting, fluid infusion, maintaining water and electrolyte balance, inhibiting gastric acid by omeprazole and inhibiting pancreatic secretion by octreotide. Nine cases were improved by conservative treatment and discharged,  and one case was transferred to surgery. Conclusion The incidence of biliary pancreatitis in children is low. The clinical manifestation is atypical. Pancreatic duct abnormalities are more common in young children, in whom the effect of conservative treatment is relatively good.

Hemolytic anemia as the first manifestation in hepatolenticular degeneration combined with ichthyosis: a case report

SUN Ruili, ZHU Shuxia, ZHANG Yanyan, WANG Cuicui, WANG Xingjian

. 2016, 34(10):  734.  doi:10.3969/j.issn.1000-3606.2016.10.004

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Objective To explore the clinical features of hepatolenticular degeneration (HLD) with hemolytic anemia as the first manifestation, and its relationship with ichthyosis. Method The clinical manifestations, course, diagnosis, and treatment of HLD combined with ichthyosis in one child who presented with hemolytic anemia as the first manifestation, were retrospectively analyzed. Results In ten-year-old girl, the first symptom was fatigue and jaundice, and then progressed to abdominal distension 5 days after admission. The reticulocyte percentage was 8.5%. Coombs test was negative. The K-F rings appeared on the cornea. The CT scan of Abdomen showed pleural and peritoneal effusion, abnormal substance deposition in liver and splenomegaly. There were mutations in ATP7B and TGM1 genes, both of which were located on fourteenth of chromosomes. The diagnosis of HLD combined with ichthyosis was confirmed. After symptomatic and supportive treatments such as removal of copper, prevention of the copper absorption and supplement of vitamin A, the disease was brought to remission. Conclusion HLD with hemolytic anemia as the first manifestation, combined with ichthyosis was extremely rare.

Clinical analysis of typhoid fever complicated with hemophagocytic syndrome in one case

WEN Zhixin, HE Yanxia, FU Dan

. 2016, 34(10):  737.  doi:10.3969/j.issn.1000-3606.2016.10.005

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 Objectives To analyze the clinical features and outcome of typhoid fever complicated with hemophagocytic syndrome (Ty-AHS) in children. Methods The clinical data from one case of Ty-AHS was retrospectively analyzed, and related articles were reviewed. Results A 4-year-old boy suffered from persistent diarrhea, alternating high and low temperature, apathia, hepatosplenomegaly, manifestation of acute peritonitis, and pyoperitoneum. Routine blood examination showed that eosinophil was 0, and hemoglobin and platelet were obviously decreased; CRP and procalcitonin were obviously increased; plasma fibrinogen was dropped to 0.8 g/L; lactate dehydrogenase was elevated to 3835 U/L; Serum ferritin was 1884 ng/mL; triglyceride was 2.42 mmol/L; EBV-DNA titer was 2.81×104 copies/mL; Blood culture showed salmonella enterica serotype IIIb. Abdominal ultrasonography showed enlargement of mesenteric lymph node and middle volume of pyoperitoneum. Chest X-ray showed pneumonia. Lymphocyte analysis showed that the ratio of CD4+/CD8+ was decreased; CD3－CD16+56+ cell and CD19+ cell were all decreased. Bone marrow cytomorphologic examination revealed that bone marrow hyperplasia was active, there were no obvious abnormalities in granulocyte, macrophage and macrophage and there were a lot of tissue cells and white blood cells. After two weeks of strengthened anti-infection and dexamethasone treatment, the symptoms in patients were disappeared, and signs and laboratory tests gradually returned to normal. Conclusions Ty-AHS is a rare complication in children with acute onset and rapid progression, and combination of antibiotics and hormone therapy is effective.

The relationship between the vitamin A level and Mycoplasma pneumonia in children

XIN Lihong, ZHANG Wen, FENG Zhanwei

. 2016, 34(10):  740.  doi:10.3969/j.issn.1000-3606.2016.10.006

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Objective To explore the correlation between vitamin A (VA) level and Mycoplasma pneumonia (MP). Methods Children aged 0-12 years hospitalized with acute infectious respiratory diseases during March 2015 to December 2015 were randomly selected. The level of serum VA was detected by high performance liquid chromatography (HPLC). MPDNA on nasopharyngeal swab was detected by polymerase chain reaction (PCR). The serum MP-IgM was detected by enzyme linked immunosorbent assay (ELISA). The MP infection rate among subclinical VA deficiency (SVAD) group, suspicious subclinical VA deficiency (SSVAD) group and VA normal group were analyzed and compared. Results Among 600 children, there were 83 cases of SVAD (13.83%) and 193 cases of SSVAD (32.17%). There were statistical differences of the incidences between SVAD and SSVAD in children younger than 1-year-old, 1-3 years old, 3-6 years old and ≥6 years old (P all ＜ 0.001), among which SVAD and SSVAD groups had the highest incidence rates in infants younger than 1 year old (26.36% and 49.10% respectively). Among 600 children, MP was positive in 201 children (33.5%),  in whom 57 children (28.35%) were SVAD and 70 children (34.83%) were SSVAD. The incidence rate of SVAD in children with MP positive was higher than that in children with MP negative (P ＜ 0.001). In 201 children with MP positive, there were significant differences in the distribution of SVAD, SSVAD and VA among different age groups (P =0.003), and the incidence rate of SVAD in infants younger than 1 year old was higher (48.39%). Conclusions SSVAD and SVAD are common in infants younger than 1 year old; SVAD may be associated with MP infection in children.

The clinical features and treatment of Brucellosis disease in 24 children

FAN Rui, YUE Shaolei, ZHANG Yijun, WANG Feng

. 2016, 34(10):  744.  doi:10.3969/j.issn.1000-3606.2016.10.007

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 Objective To investigate the clinical features and treatment of Brucellosis disease in children in recent years. Methods The clinical data of 24 children with Brucellosis disease admitted during January 2011 to December 2015 were retrospectively analyzed. Results In 24 children, 18 was male and 6 was female and average age was 9.8±3.13 years  (4-14 years). Twenty-four children were diagnosed with Brucellosis disease by positive tiger red plate agglutination tests and their antibody titer was 1:800-1:100. The children lived mainly in the pastoral areas; four cases (16.67%) had sick family members and cattle and sheep; three cases (12.5%) had histoty of contact only with sick family members; 12 cases (50.00%) had cattle and sheep exposure history; 3 cases (12.5%) had raised cattle or sheep at home in the past 2 years; 2 cases (8.33%) had not have clear transmission route. The onset of the disease occurred year round, with the highest incidence in June and July. The common clinical symptoms were fever, arthralgia, weak, sweat, and anorexia, combined with hepatomegaly and splenomegaly. Patients younger than 8 years old were treated with rifampin and sulfamethoxazole. Patients equal to or older than 8 years old were treated with doxycycline and rifampin. Twenty-three children had been cured after treatment. Only one child stopped taking the drugs 3 weeks after discharge, which resulted in recurrence. Conclusion For children living in pasturing area suffered with unexplained recurrent fever, brucellosis disease should be considered and ruled out.

Analysis of pathogenic bacteria distribution and drug resistance of otitis media in preschool children

ZHANG Haiqiong

. 2016, 34(10):  747.  doi:10.3969/j.issn.1000-3606.2016.10.008

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Objective To explore the pathogenic bacteria distribution and drug resistance of otitis media in preschool children. Methods Children with otitis media during January 2012 to December 2015 were selected. Ear discharge was taken for common pathogenic bacteria isolation and culture. The drug sensitivity was tested. Results In 200 strains of pathogenic bacteria isolated, 156 (78.0%) strains were Gram-positive cocci, mainly being Streptococcus pneumoniae, Staphylococcus aureus; 38 (19.0%) strains were Gram-negative bacilli, mainly being Pseudomonas aeruginosa; 6 (3.0%) strains were monilia. Streptococcus pneumoniae had high rate of resistance to erythromycin, tetracycline, clindamycin and sulfamethoxazole, and low rate of resistance to penicillin. Staphylococcus aureus had high rate of resistance to penicillin, and had not found resistance to vancomycin, linezolid and daptomycin. In routine monitoring of 12 kinds of antimicrobial agents, the overall drug resistance of Pseudomonas aeruginosa was low, and the resistance rates of each antimicrobial agent was less than 32%. Conclusion The common pathogens of otitis media in preschool children were Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa. However, different bacteria had different drug resistance. Thus, rational use of antibacterial drugs is the key to control infections.

The analysis of common mutation in deafness-associated gene in 111 neonates who failed to pass newborn hearing screening

ZHANG Shu, ZHOU Jie, CHENG Longfei, ZHANG Qigang, PAN Qiong

. 2016, 34(10):  750.  doi:10.3969/j.issn.1000-3606.2016.10.009

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Objective To explore the genetic mutation in neonates who failed to pass hearing screening. Methods A total of 111 cases of neonates who failed to pass hearing screening and were confirmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted. GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene 12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed. Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) had GJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) had SLC26A4 gene mutation including 2 cases of IVS7-2A ＞ G single heterozygous mutation, 3 cases of 1226G ＞ A single heterozygous mutation, 2 cases of 2168A ＞ G single heterozygous mutation, and 3 cases of IVS7-2A ＞ G and 2168A ＞ G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.

Five episodes of Kawasaki disease within 2 years: a case report

LU Shan

. 2016, 34(10):  753.  doi:10.3969/j.issn.1000-3606.2016.10.010

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Objective To explore multiple recurrence of Kawasaki disease (KD). Methods The clinical data of one child with multiple recurrent KD in two years was retrospectively analyzed. Results A four-year boy had his first episode of classic KD without coronary artery abnormality at 2 years old. He had since had four episodes incomplete KD within 2 years, all of which were manifested by fever accompanied with neck lymph node swelling, bilateral conjunctival congestion, red and chap lips and strawberry-like tongue. White blood cell count, C reaction protein, and erythrocyte sedimentation rate were all increased. No purulent changes of cervical lymph nodes were detected by ultrasound. After intravenous infusion with high doses of gamma globulin, the fever was brought down, and the duration of fever was 6~8 d. The fever free intervals between 2 adjacent episode were about 2.5, 1.5, 4.5, and 13.5 months. The clinical manifestations and genetic test results were not consistent with the periodic fever, aphthous stomatitis, pharyngitis, and cervical lymphadenitis syndrome (PFAPA). Conclusion Five episodes of KD within 2 years are rare and a long-term follow-up is warranted.

The clinical features and identification of autonomic nervous mediated syncope and pseudo psychogenic syncope in children

ZHANG Lei, LI Zhangyong, LIANG Min, LIANG Qiuyue, LIU Xiaoyan

. 2016, 34(10):  755.  doi:10.3969/j.issn.1000-3606.2016.10.011

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Objectives To analyze and compare the clinical features of autonomic nervous mediated syncope (NMS) and pseudo psychogenic syncope (PPS) in children. Methods Clinical features were retrospectively analyzed in children with syncope complaint not caused by cardiac syncope, situation of syncope, drug-induced syncope, and neurogenic and metabolic diseases that caused brief loss of consciousness, and the clinical features of similarities and differences between NMS and PPS were compared. Results In 106 children with syncope were included, there were 85 cases (80.2%) of NMS, 13 cases (12.3%) of PPS, and 8 cases (7.5%) of unexplained syncope. PPS was induced by recent mental stimulation; the syncope was more frequent; the score of orthostatic intolerance was higher; the omen was rare; the duration of attack was longer. NMS was induced by long time standing, movement and body position change; the omen was mainly dizziness, blurred vision and gastrointestinal symptoms; the duration of attack was short ( ＜ 5 min). Conclusions NMS is the most common cause of syncope in children, while PPS is an important cause of transient consciousness of non-syncope. There are similarities in clinical features between NMA and PPA and differential diagnosis is needed.

Correlation between vascular damage and blood myocardin in children with lupus nephritis

NING Chunyan, DANG Xiqiang, SONG Fang, YI Zhuwen, HE Xiaojie

. 2016, 34(10):  761.  doi:10.3969/j.issn.1000-3606.2016.10.012

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Objective To investigate the changes in the concentration of myocardin in children with lupus nephritis (LN) under different degree of vessel damage. Methods Forty-nine children diagnosed with LN by routine tissue immunofluorescence, light microscope, and electron microscope were included, and 30 healthy children were included as control group. The pathological classifications were performed according to the ISN/RPS 2003 LN pathological classification criterion. According to the Katafuchi evaluation method, the semi quantitative assessment of glomerular and kidney tubule damage was carried out, and the degree of vascular damage was evaluated at the same time. Double antibody sandwich method was used to detect the concentration of serum myocardin. Results The glomerular and kidney tubules damage in children with LN were significantly aggravated with higher pathological classification (P ＜ 0.05). Glomerular damage was positively correlated with renal interstitial damage (r =0.96, P ＜ 0.01). The degree of vascular damage was related to the degree of glomerular injury and renal interstitial injury, while it was no related with the results of clinical tests. There were different concentrations of myocardin among mild-, moderate-, severe-vessel damage and control groups (F =378.61, P ＜ 0.001), and the concentration of myocardin in moderate- and severe-vessel damage groups were obviously lower than those in control group and mild-vessel damage group (P ＜ 0.01) while there was no difference between control group and mild-vessel damage group (P ＞ 0.05). According to pathological type, there were significant differences in the concentration of myocardial between control group and different pathological types (F =626.793, P ＜ 0.01). From Ⅱ, Ⅲ, Ⅲ+Ⅴ,Ⅳ to Ⅳ+Ⅴ, the concentrations of myocardial were decreased systematically, and there were statistic differences between groups (P all ＜ 0.05). Conclusion The concentration of myocardin in children with LN can reflect the renal vascular damage to a certain extent. Elevation of myocardin concentration may be helpful for the repair of vascular damage.

Risk factors of primary nephrotic syndrome complicated with thrombosis in children

LIU Xianyan, DANG Xiqiang

. 2016, 34(10):  767.  doi:10.3969/j.issn.1000-3606.2016.10.013

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Objective To explore the risk factors of primary nephritic syndrome complicated with thrombosis in children. Methods Clinical data of 238 children with primary nephritic syndrome were retrospectively analyzed. The children were divided into thrombosis group and non-thrombosis group according to whether complicated with thromboembolism. Univariate and logistic regression analysis were performed. Results Among 238 children, there were 32 cases of primary nephritic syndrome complicated with thrombosis and the rate was 13.44%. Univariate analysis showed that infections, the use of diuretic, degree of edema, white blood cell count, IgG, C3, total protein, albumin, urea nitrogen, plasma fibrinogen, D-dimer, antithrombin Ⅲ, and 24-hour proteinuria were significantly different between two groups (all P ＜ 0.05). Multivariate analysis showed that D-dimer and 24-hour proteinuria were the independent risk factors for children with primary nephrotic syndrome complicated with thrombosis. Conclusion The elvated level of D-dimer and 24-hour proteinuria were the risk factors of children with primary nephrotic syndrome complicated with thrombosis.

NR5A1 gene mutation in child with 46, XY disorders of sex development: a case report and literature review

LI Juan, WANG Jian, SHEN Yongnian, WANG Xiumin, HUANG Xiaodong, DING Yu, CHEN Yao

. 2016, 34(10):  771.  doi:10.3969/j.issn.1000-3606.2016.10.014

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Objective To explore the clinical features and molecular diagnosis of 46, XY disorder of sex development (46, XY DSD). Methods The clinic data of one child with 46, XY DSD raised as female were retrospectively analyzed, and related literatures were reviewed. Results The 11.5-year-old child raised as female visited clinic due to, “accidently found clitoral hypertrophy for half month”. Preliminary series of laboratory examinations supported the diagnosis of 46, XY DSD, high gonadal hormone dysplasia. DNA sequencing of the whole genome exon group showed a heterozygous mutation of c.937C ＞ T, p.Arg313Cys in NR5A1 gene. No abnormality was detected in her father, while her mother was a heterozygous mutation carrier. Conclusions 46, XY DSD can be diagnosed by the whole genome exon gene sequencing.

Clinical features of Marfan syndrome and analysis of FBN1 gene mutation

JIN Xiangqun, XIONG Zhi, WANG Liqiong

. 2016, 34(10):  775.  doi:10.3969/j.issn.1000-3606.2016.10.015

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 Objective To explore the clinical features of Marfan syndrome (MFS) and its virulence gene mutation of FBN1. Methods Clinical data of 2 children with MFS were retrospectively analyzed, and pertinent literatures were reviewed. Results Case one was a 1 year and 10 months old boy with a special face, bilateral lower eyelid edema, high palatal arch, slender fingers and toes. A little of moist rales in lung could be heard, and systolic accentuated in apex could be heard too. Echocardiography showed that aortic coronary sinus dilated, aorta and pulmonary artery broadened, left ventricular diverticulum, a small amount of mitral regurgitation,and moderate tricuspid regurgitation. Electrocardiogram showed incomplete right bundle branch block. Gene detection found a c.3037G ＞ A mutation (p.Gly1013Arg) in FBN1. Case two was a 12 years old slender boy with spider-like finger/toe, high myopia, 2/6 systolic and diastolic murmur in the first and two auscultation area in aortic valves. Echocardiography showed the aortic sinus significantly broadened, aortic incompetence, mild pulmonary regurgitation and left ventricular enlargement. Gene detection found heterozygous mutation of c.1876G ＞ A (p.Gly626Arg) in FBN1, which has not been reported. Conclusion The diagnosis of MFS can be confirmed by FBN1 gene detection. A new mutation of c.1876G ＞ A (p.Gly626Arg) was detected.

Tyk2 gene mutations in primary immunodeficiency disease: a case report and literature review

HE Tingyan, YU Li, LIANG Fangfang, XIA Yu, YANG Jun

. 2016, 34(10):  779.  doi:10.3969/j.issn.1000-3606.2016.10.016

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 Objective To explore the clinical features and diagnosis of primary immunodeficiency disease caused by Tyk2 gene mutations. Methods Clinical data from the first case in China diagnosed of primary immunodeficiency disease caused by Tyk2 gene mutation were retrospectively analyzed, and related literature was reviewed. Results One year and 3 month old boy suffered with repeated pulmonary infection, chronic otitis media, intractable eczema like rash, repeated skin abscess, HSV infection, intracellular bacterial infection, and remarkedly increased total IgE. It was detected that compound heterozygous mutations of c.2269C ＞ G in No. 16 exon and c.149delC in No. 3 exon in Tyk2 gene. Literature searching found other 8 cases (5 males and 3 females) of immune deficiency patients caused by Tyk2 gene defects, all of which had Tyk2 gene homozygous mutations and presented with repeated infection of paranasal sinus and lung. In the 8 cases 6 cases were combined with mycobacterium tuverculosis infection, 4 cases had repeated virus infection, 4 cases had meningonecephalitis, 3 cases had intractable eczema like rash, 2 cases had salmonella enteritis, 1 case had remarkedly increased total IgE, one case had elevated eosinophils, 5 cases were born in intermarriage family and 1 case died of meningitis caused by unknown etiology. Conclusions When patients have repeated paranasal sinus infection and lung infection, combined with intracellular bacterial infection (including mycobacterium tuberculosis infection), and repeated virus infection or intractable eczema like rash, with or without increased total IgE, immunodeficiency disease caused by Tyk2 gene defection should be considered. Gene sequence analysis can assist in early diagnosis.

CTNS gene mutation leads to cysteine nephropathy combined with corneal crystal in young child

MA Yanyan, SHEN Yanjun, ZHOU Ling, LIU Yupeng, LI Dongxiao, DING Yuan, SONG Jinqing, LI Xiyuan, YANG Yanling

. 2016, 34(10):  783.  doi:10.3969/j.issn.1000-3606.2016.10.017

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Objective To explore the diagnosis of cystinosis. Methods The clinical and biochemical information, and gene detection results in a child with cystinosis was retrospective analyzed. Results Four-year-old female presented with photophobia and corneal crystal was found by ophthalmic examination at 2 years old, bilateral kidney stone was found, accompanied by development delay and rickets at 3 years old. Gas chromatography analysis in urine showed that a variety of amino acids were increased, and urine sugar and urinary micro-protein were also increased, which were in accordance with fanconi syndrome. The blood free carnitine was decreased, ester acyl carnitine spectrum was normal, and multi-amino acids such as lysine, valine and arginine were decreased. Gene analysis showed a homozygous mutation of c.696C ＞ G (p.323 N ＞ K) in CTNS gene, which was a known mutation. Both her parents were carrier of heterozygous mutation of c.696C ＞ G in CTNS gene. Conclusion Child with kidney stone, renal damage, combined by multi-system damage such as eyes, bone, and thyroid should be paid attention to identify the cystinosis.

The biological advance in acute lymphoblastic leukemia of t (4;11) in infants

ZENG Huimin

. 2016, 34(10):  787.  doi:10.3969/j.issn.1000-3606.2016.10.018

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Infant acute lymphoblastic leukemia B (B-ALL) accounts for 10% of childhood ALL. Eighty percent of infant B-ALL was caused by MLL gene rearrangement (MLL-r). The overall survival rate of ALL was less than 35% in infants with MLL-r. Among infant ALL with MLL-r, infants with positivefusion gene MLL-AF4 (MA4) formed by chromosome t (4;11) had even poor prognosis. Studies in monozygotic twins and archived blood spot at birth had verified that fusion gene MA4 originated from antenatal. Whole genome sequencing found that t (4;11) alone might be sufficient to spawn leukemia. This paper is going to summarize the advances in biological characteristics such as clinical features, cellular origin, genomics and disease models of  normal MLL gene and infant  B-ALL with MA4.

Early identification, diagnosis, and treatment of Mycoplasma pneumoniae pneumonia complicated with thrombus in children

BAI Shiying, MA Yanhong

. 2016, 34(10):  792.  doi:10.3969/j.issn.1000-3606.2016.10.019

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Mycoplasma pneumoniae pneumonia (MPP) accounted for 10%-40% of pediatric community-acquired pneumonia. The clinical manifestations of MPP were complex and varied. In addition to pulmonary inflammation, , the complications with lungs and other organs had been widely reported in MPP. Although the MPP complicated with thrombus in lung, other organs and limbs was rare reported, it was serious and life threatening once thromboembolism happens,. Clinicians should pay great attention to improve the ability of early identification, diagnosis, and treatment. This paper will focus on the mechanism, early identification, early diagnosis and treatment of MPP complicated with thrombosis.