Clinical spectrum of gross hematuria in pediatric patients

Although isolated gross hematuria is a disturbing symptom, there have been few studies of this finding in pediatric patients. Therefore, this study was performed to examine the associated symptoms and causes of gross hematuria in children and adolescents who presented with this problem as their major clinical manifestation. It also determined the long-term outcome of patients in whom no etiology was found. A retrospective review was performed on the medical records of 100 consecutive patients referred for evaluation of gross hematuria between 1992 and 1999. The etiology was determined based on standard urinalysis methods, clinical laboratory tests, and imaging studies. Patients with gross hematuria in whom an etiology was not found were followed up through 2001. Of the 100 patient records reviewed, 18 were excluded because the clinical evaluation was incomplete. The remaining 82 patients (59 M: 23 F) had a mean age of 9.2 +/- 5.0 years. Glomerular gross hematuria was found in 24 patients. A cause was found in all of these patients, most commonly immunoglobulin A (IgA) nephropathy (n=13) and Alport syndrome (n=6). Nonglomerular gross hematuria was found in 56 patients, and the most common etiologies were hypercalciuria (n=9), urethrorrhagia (n=8), and hemorrhagic cystitis (n=7). No etiology was found in 26 patients with nonglomerular gross hematuria. No diagnosis was made in the case of 2 patients whose hematuria could not be defined as glomerular or nonglomerular. Telephone follow-up was performed in 18 of these children 4.0 +/- 3.2 years (range: 1-9 years) after the initial evaluation and showed that only 3 of these patients had had recurrences of gross hematuria. They and all of the other patients remained otherwise well. The urinalysis, including microscopic examination, was the most important diagnostic test in a patient with isolated gross hematuria. Nonglomerular problems were more than twice as common as glomerular diseases as a cause of isolated gross hematuria in pediatric patients The distribution of the etiologies of gross hematuria was consistent with previous studies. Although nearly half of the patients with nonglomerular gross hematuria could not be given a diagnosis, their long-term prognosis appeared to be good.     

The pediatric nephrotic syndrome spectrum: clinical homogeneity and molecular heterogeneity

Idiopathic nephrotic syndrome is the most common glomerular disorder of childhood. Recurrence of nephrotic syndrome immediately following renal transplantation is rapid, results in a high rate of graft loss, and represents the most severe form of nephrotic syndrome. This review discusses the molecular heterogeneity of pediatric nephrotic syndrome across the spectrum of disease activity. A schema is offered for a molecular approach to pediatric nephrotic syndrome, including immune-mediated and structural/genetic factors.     

Bladder diverticulum: clinicopathologic spectrum in pediatric patients

ABSTRACT Urinary bladder diverticula are a relatively rare finding in both the adult and pediatric population. Their presence in the adult population has long been associated with the development of urothelial carcinoma within the lesion. Our goal is to analyze a relatively large pediatric patient population with urinary bladder diverticula to expand the body of knowledge on the associated clinical symptomatology, congenital syndromes associated with the entity, and treatment methods and to further investigate if there is any reason to suspect malignant transformation within the pediatric population. A search for pediatric patients (0-19?years of age) from 1990 to 2011 revealed 47 patients with 60 diverticula within the specified age range. Clinical records and histologic slides for all cases were pulled for review, and statistical analysis was performed on the results. The most common findings were vesicoureteral reflux (68%), recurrent urinary tract infection (55%), and hydronephrosis (40%). Fourteen of 47 (30%) patients had an associated congenital syndrome/malformation. Diverticular size range was 0.5-10?cm with a mean of 2.56?cm. No patient was found to have overt malignancy or dysplastic changes within the diverticula or bladder at the time of pathologic evaluation. High association with recognizable clinical symptoms and additional urinary tract abnormalities leads to early identification and treatment. A sizable percentage of those found to have bladder diverticula within the pediatric population will have a congenital syndrome. No association with malignancy is seen within pediatric bladder diverticula; it is an extremely unlikely event in these young patients.     

The spectrum of abdominal injuries associated with chance fractures in pediatric patients.

INTRODUCTION: With the increased use of seat belts in motor vehicles, the frequency of morbidity and mortality associated with motor vehicle accidents may have decreased but there is an associated rise in injuries. The purpose of this study was to evaluate the risk of intra-abdominal injury in children who sustained Chance-type fractures in a motor vehicle accident. MATERIALS AND METHODS: A retrospective review was conducted of pediatric patients admitted for injuries sustained in motor vehicle accidents between 1984 and 2001. Patients that sustained lumbar Chance fractures and an abdominal injury were reviewed. RESULTS: A total of 25 patients with lumbar Chance fractures were seen at our institution; twelve had associated abdominal injuries. The mean age at the time of injury was 10.9 years and the most recent follow-up was a mean of 4.8 years after injury. All patients were involved in high-speed motor vehicle collisions. Eleven patients were restrained using a 2-point restraint and only one was restrained using a 3-point restraint. CONCLUSIONS: The abdominal injury patients had a significantly higher Chance fracture index than those patients who also suffered Chance fractures but no associated abdominal injuries. Success in the management of intra-abdominal injuries is dependent on the awareness that such an injury exists.     

我国儿科肾脏病临床回顾与展望

我国儿科肾脏疾病科研协作组于 1979年 5月在南京成立 ( 1984年改称肾脏学组 ,隶属中华儿科学会 ) ,是小儿肾脏病的一个全国性学术组织 ,2 0年来领导全国小儿肾脏病工作者做了大量的工作 ,尤其是了解泌尿系疾病发病情况、制订疾病分类、统一肾病治疗方案等 ;与此同时 ,小儿肾脏病专业已日渐普及 ,专业队伍不断壮大 ,特别是近 10多年来 ,发展迅速 ,在诸多方面取得了长足进展。1　肾脏学组的几项主要业绩1 1　制订了小儿肾脏病新的临床分类　早在 1964年第六届全国儿科学术会议上制订了我国第一个小儿肾炎的临床分类 ,10余年后 ,随着小儿肾脏…     

Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by early onset of recurrent and severe infections. The molecular defects causing CGD are heterogeneous and lead to absence, low expression, or malfunctioning of one of the phagocyte NADPH oxidase components. The aim of this study was to analyze the clinical features and to investigate the molecular genetic defects of Latin American patients with CGD. PROCEDURES: The study included 14 patients. The diagnosis was based on a history of recurrent severe infections, impaired respiratory burst, and the demonstration of an underlying mutation by single strand conformation polymorphism (SSCP) or RT-PCR analysis, followed by genomic DNA or cDNA sequencing. RESULTS: Seven unrelated patients were found to have the X-linked form of CGD (X-CGD). Heterogeneous mutations affected the CYBB gene: two insertions, one substitution, and four splice site defects; two of them are novel. Seven patients presented with one of the autosomal recessive forms of CGD (A47-CGD); all had the most common mutation, a DeltaGT deletion in exon 2 of the NCF1 gene. Pneumonia was the most frequent clinical feature, followed by pyoderma, sinusitis, otitis, and liver abscess. Patients with X-CGD were more likely to have initial infections before age 2 years and to have inflammatory obstructive granulomas later. None of the patients had severe adverse reactions to BCG immunization. CONCLUSIONS: X-CGD patients from Latin America showed a high degree of molecular heterogeneity, including two novel mutations. Their clinical characteristics included early onset of infections and eventual obstructive granulomas. A47-CGD represented 50% of the reported cases, a higher prevalence than reported in other series.     

氮末端脑钠素原评价小儿心力衰竭的临床研究

目的研究血清氮末端脑钠素原(NT-Pro-BNP)与小儿心力衰竭之间的关系,为临床诊断和治疗小儿心力衰竭提供生物学参考依据。方法收集我科2004年3月~2005年3月102例不同心功能患儿,其中男67例,女35例;平均年龄(5.6±4.6)岁。按心功能分组。检测所有患儿血清NT-Pro-BNP水平、左心室射血分数(LVEF)和左心室缩短分数(LVFS)。结果NT-Pro-BNP值呈对数正态分布,随心衰加重,NT-Pro-BNP水平依次升高。LVEF值与NT-Pro-BNP对数值呈负相关(r=-0.221)。NT-Pro-BNP可以反映心衰程度。以NT-Pro-BNP值200 pg/ml作为区分有无心衰的临界点,心衰诊断的灵敏度为84.9%,特异度87.8%。LVEF、LVFS反映小儿心衰程度不敏感。结论血NT-Pro-BNP水平可反映心衰程度,并可依据其水平进行心衰分级。     

The spectrum of clinical presentation,diagnosis, and management of mitochondrial forms of diabetes

Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. The true prevalence is anticipated to be even higher because of the complexity of achieving a diagnosis in many patients who present with multisystemic complaints ranging from infancy to adulthood. Diabetes is a prominent feature of several of these disorders which might be overlooked by the endocrinologist. We here review mitochondrial disorders and describe the phenotypic and pathogenetic differences between mitochondrial diabetes mellitus (mDM) and other more common forms of diabetes mellitus.     

Caliceal diverticulum in pediatric patients: the spectrum of imaging findings

Background  

Caliceal diverticulum (CD) is uncommon in children. As compared to adults, most children with CD are symptomatic. Common complications include stone formation and infection. Correct diagnosis of CD is important for guiding management.     

Anaplastic large cell lymphomas: a study of 75 pediatric patients.

In this article, we describe the morphologic and immunophenotypic features of 75 cases of pediatric anaplastic large cell lymphoma (ALCL). According to the World Health Organization classification, 49 cases were common subtype ALCL, and respectively, 3, 6, and 17 cases were small cell, lymphohistiocytic, or mixed histologic variants. Anaplastic lymphoma kinase positivity was detected in 90.7% of the tumors and, using a panel of 9 T-cell surface markers, 88% could be assigned to the T-cell lineage. A molecular analysis for the T-cell receptor gamma (TCR- gamma) and the heavy chain of the immunoglobulin H rearrangements was performed on 6/9 ALCLs with a null immunophenotype, and a TCR clonal pattern was detected in 5/6 cases. In addition, 94.1% were immunoreactive for 1 or more cytotoxic proteins (Tia1, granzyme B, or perforin), and 15% expressed CD56. Clusterin, CD83, and Pax5, respectively, expressed in 91.3%, 1.7%, and 0% of the ALCLs, were useful biomarkers for the differential diagnosis with Hodgkin's lymphomas.     

Esophageal Crohn disease in children: a clinical spectrum

BACKGROUND: The incidence of esophageal Crohn disease (ECD) in adults ranges from 0.2% to 11.2% and in children is up to 43%. The aim of the study was to determine the clinical and endoscopic spectrum of ECD and its prevalence in our patient population. METHODS: Chart review of children with Crohn disease (CD). Esophageal Crohn disease was defined by accepted endoscopic and/or histologic findings. RESULTS: 210 children with CD were identified; 27 of those children had ECD. Nine children presented with specific upper GI symptoms; dysphagia, heartburn, nausea, vomiting, and odynophagia. Esophagoscopy in children with upper gastrointestinal symptoms revealed deep ulcers (n = 2), aphthous ulcers (n = l), erosions (n = l), edematous nodules, (n = l) and normal mucosa (n = 4). In asymptomatic children aphthous ulcers (n = 5), erosions (n = 3), deep ulcers (n = 3), and normal looking mucosa (n = 7) were seen. Twenty children also had gastric lesions, 3 children had duodenal lesions, and 3 children had both duodenal and gastric involvement. All 27 children had evidence of ileo-colonic or colonic disease. Acid suppressive medications were given only to children with upper GI symptoms and endoscopic esophageal lesions. The mean duration of follow-up from diagnosis of CD was 3.02 years (range 2 months-11.7 years). At last follow-up review, 7 children were receiving acid suppression and no children were receiving steroids. There were no complications related to ECD. CONCLUSION: The prevalence of endoscopic ECD is 7.6% but as many as 17.6% of our patient population had histologic evidence of ECD. The clinical and endoscopic spectrum of ECD are highly variable and poorly correlate with each other.     

104例儿童系统性红斑狼疮临床分析

目的探讨系统性红斑狼疮(SLE)患儿的临床特点。方法对2003年3月—2010年10月确诊的104例SLE患儿首次住院病史进行回顾性分析。结果 104例患儿中男17例、女87例。首发症状以面部皮疹(71.2%)、发热(62.5%)、关节肿痛(60.5%)、肢端红斑(49.0%)多见;其中38例累及肾脏的病理分型为局灶增生型(Ⅲ,26.3%)、弥漫增生型(Ⅳ,57.1%)、膜型(Ⅴ,18.4%)。男性患儿发病初期,皮疹、血尿、蛋白尿、浆膜腔积液、肺间质改变、受累器官数、危重症病例数、疾病活动性指数(SLEDAI积分)等与女性患儿的差异有统计学意义(P均<0.05)。结论儿童SLE多发于青春期,女性多见。男性患儿发病年龄较女性早,临床症状重,器官受累多,肾脏受累突出,病情进展快。     

儿童T波电交替的临床研究

目的 探讨T波电交替(T-wave alternans,TWA)的病因及预防恶性室性心律失常和心源性猝死的方法.方法 回顾性分析6例心电图TWA阳性患儿诊治的过程.例1为急性重症心肌炎;例2为特发性左室室性心动过速患儿因长时间大剂量使用乙胺碘呋酮后,导致获得性长QT综合征;例3为先天性长QT综合征;例4为先天性心脏病主动脉缩窄纠治术后心肌梗死;例5、例6为心率增快的先天性重度主动脉瓣狭窄.结果 6例均出现心电图TWA,其中5例即时或几小时后出现室性心动过速.2例通过治疗,TWA消失,未出现室性心动过速;另外4例未积极预防室性心动过速的发生而死亡.结论 TWA是室性心动过速、心室颤动及心源性猝死的先兆,应引起临床重视;对于TWA阳性患儿,除了明确病因,积极治疗原发病外,应高度警惕恶性室性心律失常的发生,另外积极预防TWA的出现也尤为重要.     

Doxycycline use for rickettsial disease in pediatric patients

BACKGROUND: Recent evidence suggests that despite potential side effects, doxycycline should be considered the drug of choice for children of all ages in whom a rickettsial disease is considered in the differential diagnosis of the illness. We hypothesized that doxycycline would be used infrequently for the treatment of suspected rickettsial disease. The objective of the investigation was to determine the initial antibiotic administered to children for whom rickettsial infection was considered likely. METHODS: The study population consisted of 35 children evaluated at Texas Children's Hospital between 1987 and 1999 in whom rickettsial disease was a diagnostic consideration. Demographic information and clinical manifestations were assessed through a retrospective chart review. RESULTS: Thirty children (86%) presented with fever, 21 (60%) with rash and 14 (40%) with headache, which are typical presenting symptoms for rickettsial diseases. Only 1 of 35 children (3%) was prescribed a tetracycline class antibiotic as initial empiric therapy. Eleven (31%) children received doxycycline during the hospital course. A total of 19 patients, or 54%, received an antimicrobial known to have efficacy in the treatment of rickettsial infection, usually at the suggestion of an infectious diseases consultant. CONCLUSIONS: Even among children for whom rickettsial infection is a diagnostic consideration, doxycycline is not prescribed with the frequency that is indicated. Pediatric caregivers should have heightened awareness regarding the appropriate indications for doxycycline use in childhood.