Objective To investigate the evaluation standard and proper time point of anti-tuberculosis trial treatment for differential diagnosis between Crohn's disease (CD) and intestinal tuberculosis (ITB) in children. Methods Patients who were suspected CD or ITB by clinical symptoms and pathological examination, and confirmed with tuberculosis infection or positive acid-fast bacilli stain were retrospectively reviewed. Patients who had a history of anti-tuberculosis or immunosuppressant treatment and were diagnosed with congenital immunodeficiency disease combined with tuberculosis infection were excluded. Patients with caseous necrosis, positive acid-fast bacilli stain, extra-intestinal active tuberculosis, positive PPD test, positive bacterial smear test were administrated with anti-tuberculosis trial treatment. Pediatric Crohn's Disease Activity Index (PCDAI) and endoscopic evaluation were analyzed at 3, 6 and 12 months. ITB was confirmed by Paustian's criteria with Logan's modification and CD by pathological examination. Trial of anti-tuberculosis treatment were with 2-3 months of HRZE and 7-10 months OF HR. Results A total of 26 patients suspected CD or ITB were enrolled in this study. All cases were done PCDAI and endoscopic evaluation, 17 of them were diagnosed with ITB, 9 were with CD. No significant differences were found in clinical characteristics, laboratory index, endoscopy, small bowel MRE test, pathological examination, duration of anti-tuberculosis treatment and anti-tuberculosis drugs. In ITB group, the decrease of PCDAI ≥12.5 or the PCDAI≤10 between 3 months and baseline, between 6 months and baseline, between 12 months and baseline occurred in 6, 14 and 16 cases, respectively; whereas in CD group, the data were 1, 2 and 1 case, respectively. Mucosal healing and improvement rates of lesions at 6 months of treatment in ITB and CD group were 76.5% and 22.2%, respectively; the rate at 12 months was 94.1% and 11.1%, respectively (Fisher's exact test, P=0.000). To use success of anti-tuberculosis trial treatment as a golden standard, the positive predictive values of PCDAI at 3 and 6 months were 85.7% and 86.7%, respectively. The positive predictive value of endoscopic evaluation at 6 months was 86.7%. The specificity of PCDAI plus endoscopic evaluation was 88.9%, the positive predictive value was 92.9% which was 1.2% lower than that value at 12 months (94.1%). Conclusion With lack of special markers for differential diagnosis between CD and ITB, some cases still need to receive anti-tuberculosis trial treatment. In the course of anti-tuberculosis treatment, the improvement of clinical symptoms goes quickly compared with endoscopic evaluation. PCDAI plus endoscopic evaluation at 6 months of anti-tuberculosis trial treatment can be used as the best tool and time point for differentiating between ITB and CD in children.
Objective To analyze the characteristics of sleep and respiratory parameters and risk factors of sleep breathing disorder (SBD) in children with DMD. Methods Children with Duchenne muscular dystrophy (DMD), who had finished PSG and SBD related symptoms questionnaire in Beijing Children's Hospital affiliated to Capital Medical University, were retrospectively collected and divided into SBD group and non-SBD group based on the judgement of sleep stages and respiratory events. 7 sleep parameters and 7 respiratory parameters were presented, and 9 risk factors of SBD in children with DMD, selected from previous literatures, were analysed using single factor and multi factor analyses. Results 70 boys, whose mean age was (6.3±2.5) years old, were included. 66 cases completed percutaneous CO2 monitoring at the same time. Sleep time of doing PSG was 313~593（457±59）min, and sleep efficiency was 54%~98%［（86.7±8.1）%］. 25 patients were in SBD group and 45 patients were in non-SBD group. In the SBD group, none in patients aged 1 to 3 years, 8/23 in patients aged 4 to 6 years, 12/30 in patients aged 7 to 9 years, 5/5 in patients older than 10 years old. 14 patients were diagnosed as OSAHS. 18 cases had CO2 retention. 7 patients were presented with both OSAHS and CO2 retention. Compared with non-SBD group, patients in SBD group with the symptoms of sleep apnea phenomenon, asphyxia or shortness of breath at night, open mouth because of blocked nose and daytime sleep increasing were significantly increased. As to sleep parameters, patients in SBD group were more likely to wake up, more awake with events, more light sleep, less deep sleep, and lower sleep efficiency, the difference was statistically significant. As to respiratory parameters, there were significant differences between the two groups except for CAI. NSAA<13.5 scores (OR=3.4，95%CI：1.060-10.949) and age of doing PSG≥6 years （OR=7.3, 95%CI：1.426-37.463）increased the risk of suffering from SBD. Conclusion SBD occurred in the early stage of DMD patients, of which the risk increased with age. Motor function assessment may be a good predictor of SBD.
Objective To analyze the characteristics of catch-up growth among premature infants appropriate for gestational age (AGA ) and the growth deviation of them after 2 years of age. Methods Cohort study was used to design experimental program. The preterm infants without disease born in Chengdu Women's and Children's Central Hospital were involved. They were fed on premature formulas(74 Kcal·100 mL-1) until their weight for height reached the WHO P50 level. Their weight, length and head circumference were measured every month during the first year. After 2 years of age they were asked to measure weight and length. All the data were compared with the WHO and Nine-Chinese-City criteria. Results The 165 preterm infants were involved in this study. All of them could be fed with any brand of formula when their weight for height reached the WHO P50 level, and were followed-up after the age of 2 years. 122 cases of premature infants had regularly completed 1 ~ 9 months and 12 months of physical measurement and feeding guidance, 43 cases without regular follow-up when their weight for height reached the WHO P50 level . The weight and length of the premature male infants were statistically significant different with the WHO standards, and the head circumference was statistically significantly different with nine -Chinese- city criteria. For females, the weight and the head circumference were individually different with the WHO standards and the nine -Chinese- city criteria .There was no significant sex difference in physical measurement of growth of the premature infants appropriate for gestational age. There was no growth deviation in infants who were regularly followed-up. For those who were not regularly followed-up ,54% infants(23/43) were found growth deviation according to WHO standards, 98% infants (42/43) had growth deviation according to the nine -Chinese- city criteria. The growth deviates were mainly thin, risk of overweight and overweight. Conclusion The regularity of the premature infants growth is different from that of the full term infants. Catch-up growth can be seen through the first year in the premature infants. The regular clinical health care is the influencing factor of the growth deviation in children. The Nine-Chinese-City criteria will raise the screening rate of the wasting , overweight and obesity.
Objective To evaluate the predictive efficiency of 4 different scoring systems and investigate the risk factors of intravenous immunoglobulin (IVIG) unresponsiveness in Kawasaki disease (KD) patients in Southwest China. Methods Clinical data of 140 IVIG unresponsive KD patients and 140 randomly sampled IVIG responsive ones were retrospectively analyzed. Kobayashi, Egami, Sano and Fu scoring systems were applied to all patients. Risk factors of IVIG unresponsiveness in KD were investigated by using univariate analysis and multivariate logistic regression models. Results The Youden indexes of all these 4 scoring systems in the study were from 0.164 to 0.286. In our study, univariate analysis showed that cervical lymphadenopathy, polymorphous exanthema, platelet count (PLT), percentage of neutrophil (N%)，C-reactive protein (CRP), total bilirubin (TB) and albumin (ALB) were related to IVIG unresponsiveness, while polymorphous exanthema，PLT and CRP were identified as risk factors of IVIG unresponsiveness by using multivariate logistic analysis (P<0.05). A new scoring system was constructed by three predictors: polymorphous exanthema (score of 2), PLT≤280×109·L-1 (score of 1) and CRP≥60 mg·L-1 (score of 1). The incidence of IVIG unresponsiveness would be high if score of ≥3. The sensitivity was 70% and the specificity was 60%. Conclusion The Youden indexes of these 4 scoring systems were not more than 0.286, which indicated that none of these 4 scoring systems was efficient in predicting IVIG unresponsiveness in KD and not suitable for Chinese children. In this study, the predicting efficiency of the new scoring system was not optimal enough，as it had a higher sensitivity but a relatively low specificity.
Objective To discuss the prognostic value of noninvasive hemodynamic monitoring index on children with severe hand, foot and mouth disease. Methods The children who were admitted to the PICU of Hunan children's hospital and receiving noninvasive cardiac monitoring from April 1st, 2014 to December 1st, 2014 for hand, foot and mouth disease were collected in our study. They were divided into general cases subgroups, severe subgroups and critical subgroups according to the illness severity; and divided into survival group and death group according to the prognosis. In the same period in the hospital the gender matched cases with normal cardiac function were as control group. Fifteen indicators including conventional parameters, pump function, after the load, the myocardial contraction force and thoracic fluid level were monitored by ICON noninvasive cardiac output measurement instrument in two groups. The differences of the control group and hand, foot and mouth disease groups were analyzed, the factors significant to the single analysis were further analyzed with multiariable logistic regression analysis, the ROC curves were made for the indexes, and calculated the optimal boundary value and its sensitivity, specificity, positive predictive value and negative predictive value. Results During the study period 95 cases of children with hand, foot and mouth disease were included, male 62 cases, aged 6 months to 8 years; 31 in general cases subgroups, 42 in severe subgroups and 22 in critical subgroups, 81 in survival group and 14 in death group. Control group included 48 cases, male 30 cases, aged 4 months to 7 years. There was no statistically significant difference in gender, age distribution between two groups. ① Comparing the control group, general cases subgroups, severe subgroups and critical subgroups, the levels of CO, CI, SV, SI, SVR, SVRI, SVV, PEP, LVET, EF, STR, TFC were significantly different(P<0.05). ② The levels of STR, SVR, SVRI, PEP and TFC in the death group were significantly higher than those in the survival group. Meanwhile the levels of CO, CI, SV, SI, SVV, LVET and EF were obviously lower than those in the survival group (P<0.05). ③ The Logistic regression analysis showed CI and SVV were death protective factors, OR was 0.568 and 0.637 respectively，SVR、PEP、STR、TFC were death protection factors in children with severe hand, foot and mouth disease，OR was 2.003（95%CI 1.929-4.008）,2.040（95%CI 1.935-4.157）,1.011（95%CI 1.040-1.881） and 1.979（95%CI 1.087-3.011）,respectively. ④ CI index area under the receiver-operating characteristic curve was 0.792. CI 2.0 L·min-1·m-2 for predicting the sensitivity of the death and specific degrees was 64.2%和80.2% respectively. Conclusion Noninvasive hemodynamic monitoring was valuable in the treatment of children with severe hand, foot and mouth disease. SVR、PEP、STR、TFC were death protective factors in children with severe hand, foot and mouth disease.
Objective To investigate pediatric nurses' adoption of evidence-based pain management practice and prior conditions that influence pediatric nurses' decisions to adopt EBPMP in top three hospitals of China. Methods General information questionnaire and Chinese Carlson's EBPMP Prior Conditions Instruments(C-CPCIs) were filled out by pediatric nurses with working age more than one year from 14 children's hospitals and 7 general hospitals in seven regions around east, south, central, north, northwest, southwest and northeast of China, then C-CPCIS scores and four subscales scores were calculated, and the influence factors of total table score were explored. Results During the study period, 2 983 nurses participated in the C-CPCIs investigation, 2 983 questionnaires were collected, 2 875 were valid questionnaires, the effective rate was 96.3%, 2 495 from Children's hospital, 380 from general hospital. Women accounted for 98.6%, the average age was 30.2 (20 to 55 years old), average working year was 8.4 (1 ~ 35 years), the nurse from pediatric internal accounted for 31.2%, bachelor degree 71.7%, nurses practitioner 47.9%, nurses with the head nurse management experience accounted for 9.1%, with pain knowledge training experience 18.9%, regular assessment of pain 73.4%.Wong Baker facial s scale was the most used pain assessment tool (60.9%). Total and each subsale scored 3.26±1.14, 3.68±1.28, 2.70±1.001, 3.06±1.09, 3.24±1.09. Items 16,19 and 12 had a low score. Multiple stepwise regression analysis demonstrated that the score of total scale was correlated with title（β=0.077）, department (β=0.160), hospital type (β=0.100), regular assessment of pain (β=-0.209), head nurse experience (β=-0.102) and pain learning experience (β=-0.102). Conclusion At present, pediatric nurses' EBPMPs were at a low level , pediatric nurses had the problems for blindly and optimistically estimating pain and lacking of innovation. In the future, targeted interventions should be taken to elevate the level of pediatric nurses' EBPMP.
Objective To investigate if preterm infants with bronchopulmonary dysplasia (BPD) had lung function abnormalities. Methods Children were collected from neonatal intensive care units ( NICU ) in Children's Hospital of Fudan University, from January 1, 2012 to December 31, 2013. All babies with gestational age ≤ 32 weeks, birth weight ≤ 1 500 g were included in this study. In the same period, the same size sample of non BPD was collected as control group. Lung function were assessed by body plethysmography when premature infants were at 1 and 2 years corrected ages, lung function was analyzed in preterm infants with BPD or severe BPD at 1 and 2 corrected age. Results There were 149 cases in BPD group and mached 149 infants without BPD in control group. There were 37 cases(mild/moderate group 22 cases, severe group 12 cases ) in 1 year corrected age group and 25 cases(mild/moderate group 15 cases, severe group 10 cases ) in 2 year corrected age group in preterm infants with BPD ,while there were 33 cases , 10 cases in 1 and 2 years corrected age in preterm infants without BPD . In the first and second year of life: Compared with the control group, preterm-born children with BPD had significantly lower values of FRCp/kg( Plethysmographic functional residual capacity per kilogram), TPTEF/TE( Ratio of time to peak tidal expiratory flow to total expiratory time), VPTEF/VE( ratio of volume to peak tidal expiratory flow to total expiratory volume), TEF25(Expiratory flow at 25% tidal volume)and higher values of Reff/kg(effective airway resistance per kilogram). In the first year of life: Compared with the mild/moderate BPD group, severe BPD group had significantly lower values of FRCp/kg , TPTEF/TE and higher values of Reff/kg. In the second year of life: Compared with the mild/moderate BPD group, severe BPD group had significantly lower values of VPTEF/VE and higher values of Reff/kg. Conclusion In the present study BPD predicted the lung volume, and was associated with airway resistance in preterm-born infancy, while in severe BPD group they were obvious.
Objective To analyze the clinical characteristics of macrolide-resistant Mycoplasma pneumoniae (MP) pneumonia. Methods Children with Mycoplasma pneumoniae pneumonia in the Respiratory Department of Beijing Children's Hospital were included, from January 2014 to December 2015. All children were taken swabs for DNA and drug-resistant gene detection on admission, and were divided into macrolide-resistant group (MR) and macrolide-sensitive (MS) group according to the detection results, the clinical data and curative effect indexes were compared between these two groups. Results 225 patients who were detected for the drug-resistant gene were analyzed, including 195 MR cases and 30 MS cases. All patients in two groups were with high fever and cough, and there were no significant differences in gender, age, highest temperature, the proportion of severe pneumonia, acute peripheral blood leukocyte count, acute phase proportion of neutrophils, acute phase CRP value between these two groups; The chest X-ray films of all cases showed lobar consolidation, mainly with unilateral lesion of right lung, but the proportion of bilateral lesions in MR group was higher than that in MS group (P = 0.056). The total course and the fever time after using macrolide in MR group were significantly longer than those in MS group ［total course (18.3±6.1）vs (16.5±4.2) d, P=0.031；(7.0±4.3）vs (4.7±3.4) d ,P=0.003］. Analyzing curative effect, the total fever time and the total course in the group using macrolide at beginning were significantly longer than those in the group using other antibiotics at beginning ［total fever time (9.6±3.5) vs (12.1±5.6) d；total course (16.1±4.1) vs (19.3±6.6) d；P<0.001］. Conclusion The resistant rate of MP was 87.6% in Beijing Children's Hospital. The patients with MR-MPs had higher risk for bilateral lesions, longer fever time and total course than the patients with MS-MPs. There was no difference for other clinical characteristics between these two groups. In addition, early application of macrolide could shorten course and fever time of patient with MR-MP.
Objective To evaluate the effectiveness of chemo-therapeutic drugs for Ⅲ and Ⅳ HB patients, constituded by in vitro adenosine triphosphate tumor chemosensitive assay(ATP-TCA) system. Methods Ⅲ and Ⅳ patients who received postoperative chemotherapy were selected in our department from June 2013 to June 2016, and divided into ATP-TCA group and control group according to if they had received ATP-TCA. ATP-TCA system was applied to test efficacies of Irinotecan(CPT-11), cisplatin (DDP)，vindesine (VDS), cyclophosphamide（CTX），pirarubicin（THP），etoposide (VP-16), paclitaxel （PTX）and 5-fluorouracil (5-FU), then the patients received precision chemotherapy according to ATP-TCA. Results The ATP-TCA group had 38 samples，2 of them quit the group because of fewer cells .2 of them had two surgeries and had two assay results. The control group had 40 samples. In the 38 samples,the sensitive rates were 84.2%to DDP, 78.9% to CPT-11, 78.9% to VDS,77.8% to CTX, 76.3% to 5-FU, 57.9% to THP, 47.3% to VP-16, 42.1% to PTX,respectively. In stage Ⅲ patients, no significant differences were found in mortality between ATP-TCA group and control group (15.4% vs 28.5%，P=0.077. In stage Ⅳpatients, significant differences were found in mortality between ATP-TCA group and control group(47.8% vs 61.5%，P=0.005）. In clinical trail,at the research end-point, significant differences were found in mortality between ATP-TCA group and control group(36.1% vs 50%，P=0.048. Conclusion The highest sensitivity drug was DDP. In ATP-TCA group, three-year survival rate was higher than control group, ATP-TCA system might be useful in evaluating the efficacy of drugs on HB samlpes, and in planning ivdividualized chemotherapy regimen for HB samples,and in planning individualized chemotherapy regimen for HB patients. ATP-TCA-guided chemotherapy might prolong survival time of HB patients.
Objective To investigate the nasal carriage rate and molecular characteristics of Staphylococcus aureus(S. aureus) isolates among neonates in neonatal intensive care unit（NICU） of Beijing Children's Hospital. Methods Surveillance of nasal swabs from neonates were conducted in NICU of Beijing Children's Hospital from May to December of 2015.Bacterial culture was performed.Methicillin-resistant Staphylococcus aureus (MRSA) and Methillin-susceptible Staphylococcus aureus (MSSA) were identified by cefoxitin disc diffusion and detection of mecA.Isolates were analyzed by MLST,SCCmec,spa typing ,followed by detection of pvl，sasX and 21 toxin genes by PCR. Results Seventy-nine (18.4%) of 429 neonates had nasal carriage of S. Aureus. MRSA accounted for 27.8% .17 sequence types and 29 spa types were detected and the most frequent types were ST59（31.6%）and t189 （22.8%） respectively. The most common SCCmec type was Ⅳa （81.8%）among 22 MRSA strains. ST59-Ⅳa-t437(63.6%) and ST188-t189 (15.8%) were the most common clones of MSSA and MRSA, respectively. Of 79 isolates, seb-sek-seq(10.1%) was the most common virulence genotypes. seb、sek、seq and pvl gene were more associated with MRSA than with MSSA ,while sei gene was more associated with MSSA. Conclusion The nasal carriage rate of S. aureus was high among neonates in NICU of Beijing Children's Hospital. ST59-Ⅳa-t437 and ST188-t189 were the most common clones of MSSA and MRSA. The rate of toxin genes in carriage strains of S. aureus was high, and visible differences existed between MRSA and MSSA strains.
Objective To summarize the clinical characteristics in children harboring GFM1 gene mutations. Methods Retrospective analysis about the clinical features was performed in a patient with biallelic GFM1 mutations. Mitochondrial translation factor G1 (mtEFG1) space structure was constructed to verify the hypothesis about the relation between GFM1 gene missense mutations and the results of clinical phenotypes. Results The patient was a girl aged six months and twenty-eight days. Growth retardation, abnormal liver function, jaundice, hepatomegaly and splenomegaly were presented with in poor response and lethargy. Serum biochemical tests demonstrated elevation in total bilirubin, direct bilirubin, aspartate transaminase, alkaline phosphatase, gamma-glutamyltransferase, blood ammonia and blood lactic acid, as well as hypoalbumineamia, prolonged PT, acidosis, and hypoglycemia.Mass spectrometry of serum amino acids & acyl carnitine and urine urine organic acids suggested elevation of many amino acids in serum and ketonuria. Abnormal signals were observed in bilateral thalamus, cerebral peduncle, basal ganglia, and medial anterior occipital lobes through cranial MRI. Sequencing of GFM1 revealed compound heterozygous mutations: a missense mutation c.688G>A (p.Gly230Ser) in exon 5 and a frameshift deletion c.1686delG (p.Asp563Thrfs*24) in exon 14. Gly230Ser protein changed amino acid residue in the structure of peripheral mtEFG1 space, changes in which area resulted in encephalopathy. Conclusion A Chinese girl carrying compound heterozygous GFM1 gene mutations of c.688G>A and c.1686delG was reported. Hepatic presentation of this case denied the assumption that missense mutations in GFM1 gene that changes the peripheral amino acids of the protein will cause phenotype of encephalopathy.
Objective To improve the recognition of hyper-IgD and periodic fever syndrome (HIDS). Methods The clinical features, laboratory examinations , serum IgD and MVK level, and also MVK gene detection results were retrospectively summarized in HIDS patient. Results A 6.6 years old boy was admitted to our hospital due to periodic fever from 2 years old. The periodic episodes of fever occurred every 2 to 4 weeks, and lasted for 3 to 7 days everytime, accompanied with abdominal pain, diarrhea, joint pain and with liver and spleen enlargement. The fever could spontaneously resolved without antibiotic treatment. The amount of WBC, neutrophil and CRP increased with the fever, and decrease to the normal level once the fever resolved. The patients had the history of fever episodes and infection symptom after immunization. The infectious disease, rheumatic disease and neoplastic hematologic disorder were ruled out by detailed and systemic examination. The pathogenic compound heterozygous mutations of MVK gene:，p.V377I (c.1129G>A) and p.Leu264fsX12 (c.790_791insC, novel mutation) were found and HIDS was diagnosed. The much higher serum level of IgD (1 084 μg·mL-1) and lower MVK level (23 ng·mL-1) were further detected and HIDS was confirmed. Conclusion The clinical diagnosis of HIDS should be suspected in cases with periodic fever onset from infant period. Immunization induced fever episode was the important clue of the HIDS diagnosis. The levels of serum IgD and MVK were the diagnostic basis and the MVK gene mutation could clarify the HIDS diagnosis.
Objective To analyze the clinical characteristics and the follow-up situation of a patient with congenital generalized lipodystrophy (CGL) carrying BSCL2 mutation, and to draw attention to the phenotype and genotype of patients with CGL. Methods Physical examination, laboratory tests, ultrasonic examination and the 5-year follow-up situation of the patient with CGL was collected, 2 742 genes of inherited diseases including CGL related genes of the patient and his parents were sequenced, and relevant literatures about BSCL2 mutations were reviewed. Results The 5-year and 11-months boy was presented with blotting, poor weight gain for 11 months. He was full term delivered vaginally with no perinatal complications. He could raise his head at 5-month old and could walk with support at 1-year old. He appeared blot and "thin" since 1-month of age, generalized lack of body fat with extreme muscularity since 2-month of age, skin pigmentation especially in neck and armpit at 3-4 months of age, and body hair grew gradually at 5-6 months of age. Physical examination: he had abnormal face with empty cheeks, generalized lipoatrophy with absence of adipose tissue, hypertrophy of all limb muscles with prominent superficial veins, and generalized skin pigmentation especially in neck and armpit. Abdomen examination showed distension, hepatomegaly, without splenomegaly or abdominal shifting dullness. There was no special of cardiopulmonary or neurological examination. Wechsler Intelligence Scale for Children Test revised for Chinese of the patient was 72. Perineal examination showed a macropenis with 5 cm in length, testes were 3 mL in bilateral and pubic hair was Tanner 2. No similar condition was found in other members of his family. He was diagnosed as CGL and treated with low-fat, high-carbohydrate diet, oral glucose tolerance test showed impaired glucose tolerance and he was treated by diet. BSCL2 gene of the patient showed a compound heterozygous mutation: missense mutation c.713G> A, p.Gly238Asp from paternal; nucleotide repeat c.782dupG, pIle262Hisfs* 12 from maternal. A literature review of the clinical phenotypes of CGL due to BSCL2 gene mutation was performed, which showed generalized lipoatrophy with absence of adipose tissue, hypertrophy of all limb muscles with prominent superficial veins, acromegaly, hairy, skin pigmentation, hyperinsulinemiathe, hypertriglyceridaemia hepatomegaly, splenomegaly, hepatic steatosis, liver dysfunction and cardiomyopathy. Conclusion Patients with CGL are rare, genetic sequencing should conducted in children presented with generalized lack of adipose tissue. The metabolic conditions should be closely followed-up since genetic diagnosis. One of the mutations c.713G>A, p.Gly238Asp in the BSCL2 gene of this patient is a novel mutation, which has not been reported so far.
Objective To summarize the clinical data of five cases of Dent-1 disease so as to improve our understanding of the disease. Methods Clinical data of five cases with Dent-1 disease were summarized, including clinical manifestations, laboratory findings and renal pathological changes. Mutation analysis on CLCN5 and OCRL genes was performed by direct sequencing in these families. Related literatures of Dent-1 disease were reviewed and the phenotypes and genotypes were summarized. Results Laboratory findings of five patients showed 24-hr urine protein ranged from 33.0 to 68.9 mg·kg-1, and high levels of urinary α1-microglobulin, albuminuria, immunoglobulin G and hypercalciuria, and one patient with microscopic haematuria and other two patients with nephrocalcinosis. Five CLCN5 mutations were detected, including R637X, Y479X, G530V, W103fsX104 and R707X, respectively. Y479X, G530V and W103fsX104 were novel mutations. Among 260 articles related to Dent's disease, we found 72 case reports or case series of Dent-1 disease including 598 patients, 422 from Europe and America and 176 from Asia. Except low-molecular-weight proteinuria, the incidence between Europe and America cases and Asia cases of hypercalciuria, nephrocalcinosis, rickets and renal insufficiency were statistically significantly different. No significant correlations between phenotypes and genotypes in all cases were found, including nonsense mutations, missense mutations and frameshift mutations. Conclusion Clinical diagnosis of Dent-1 disease should be confirmed by CLCN5 mutation test to avoid unnecessary immunosuppressants therapy. CLCN5 mutations show high heterogenetic, and the relationships between the phenotypes and genotypes of Dent-1 disease are not found yet.
Objective To improve the knowledge of the acquired thrombotic thrombocytopenic purpura (TTP) in children. Methods The clinical data of the acquired TTP case without nervous system involvement were summarized and related literatures were reviewed. Results The 12-year-old boy was admitted to our hospital because of fever and rash on the lower limbs as the first symptom. The blood test showed anemia, thrombocytopenia and blood smear showed erythroclasis, while the urinalysis showed microscopic haematuria. The blood biochemistry showed elevated bilirubin and LDH levels. However, renal function and complement level were normal. Thrombotic microangiopathy (aHUS or TTP) was considered. In further differential diagnosis, his ADAMTS13 activity showed 5% below , with the presence of ADAMTS13 antibodies. The final diagnosis was acquired TTP. Plasma exchange plus prednisolone were carried out. The patient recovered absolutely, and all the medication was stopped after 4 months. There was no relapse during the six months follow-up. After a systematic analysis of the ChianInfo, CNKI and pubmed. A total of 40 TTP patients were analyzed from 14 articals, The mean age of patients was (10.2±5.2) years old. The study included 19 men and 21 women. All patients presented with anemia and thrombocytopenia, 36 cases with fever (90%), 28 cases (70%) with nervous system involvement, 18 cases (45%) with renal involvement. During the acute phase,3 patients died and 37 patients were treated with the plasma exchange plus glucocorticoid, 31 patients (83.8%) clinical symptoms were quickly improved with plasma exchange plus glucocorticoid, while 6 had other complications were further treated with RTX. The mean follow-up time was 29 months (3-72 months) with 4 lost cases (10.8%). Within the follow-up period, 13 (39.4%) patients suffered relapses. 9 cases were given a further treatment of RTX , while 2 of them still suffered relapse during RTX treatment. Conclusion The patients presented with anemia and thrombocytopenia should be considered as TTP. Monitoring of the ADAMTS13 activity and anti-ADAMTS13 antibody plays an important role in diagnosis and differential diagnosis in TTP. Plasma exchange plus glucocorticoid or rituximab can be considered as the first line treatment.
