Idiopathic nephrotic syndrome: a clinical approach

Children with new-onset nephrotic syndrome invariably present to general paediatrics in the first instance. Many with known nephrotic syndrome under the care of a paediatric nephrologist will present to local services with complex relapses. Using a case-based approach, this review aims to equip the general paediatrician with the skills: to assess and manage a child with a new presentation of nephrotic syndrome, to identify the complications associated with the nephrotic state, to choose the most appropriate steroid regimen and to identify those patients who should be referred to a paediatric nephrologist. We focus on the management of steroid-sensitive nephrotic syndrome (SSNS), the most common diagnosis in children presenting with nephrotic syndrome. We also discuss aspects of management of nephrotic syndrome relevant to the COVID-19 pandemic. Additionally, by the end of the article, the reader should have a basic understanding of the underlying pathophysiology of nephrotic syndrome and its resultant complications.     

Pediatric split liver transplantation after Fontan procedure in left isomerism combined with biliary atresia: A case report

LI is a subset of the heterotaxy syndrome and a rare birth defect that involves the heart and other organs. It can be combined with extracardiac abnormalities, especially BA. CHD can be associated with LI in up to 15% of cases, although it is rare in BA. Pediatric LT for a child with ESLD due to BA combined with LI and CHD is a challenging issue for a transplant surgeon. Herein, we report a successful split LT on a three‐yr‐old boy with LI who survived after a Fontan procedure due to single ventricle, but who suffered from HPS associated with BA.     

Psychosocial functioning of young children with learning problems

BACKGROUND: In this study, psychosocial functioning of different groups of young children with learning problems was investigated using a diverse set of psychosocial variables (including behaviour problems, academic motivation, social preference, and self-concept). METHODS: For this purpose, children with low academic achievement, with a specific learning disability based on an IQ-achievement discrepancy, and with a specific learning disability based on an achievement discrepancy, were selected out of 276 children of the first grade of regular primary schools. By means of multivariate analyses, their psychosocial functioning was compared to the functioning of children without learning problems. RESULTS: The total set of psychosocial variables was able to discriminate between children with and without learning problems, with medium effect size. Attention problems as reported by the teachers turned out to be the most important single psychosocial predictor for group discrimination. However, results varied according to the type of learning problem and the type of psychosocial problem. Children with a specific reading/spelling disability and children with low general academic achievement differed most from their peers without learning problems with regard to their psychosocial functioning. Poor cognitive self-concept was related primarily to low academic achievement, poor learning motivation might be specific for math problems, and a low social preference score seemed most characteristic of children with a specific learning disability. CONCLUSIONS: Studying several psychosocial variables simultaneously in different groups of children with learning problems leads to a further refinement of the current knowledge.     

Strategies to treat children with end-stage renal dysfunction and severe lower urinary tract anomalies for receiving a kidney transplant

Abstract:  Dealing with children with bladder dysfunction and kidney transplant is certainly not a new issue. Nevertheless, it is still a matter of discussion and dilemma, based on few, not standardized, institutional center experiences. The authors perform a review of the techniques employed to restore the bladder condition in terms of storage and drainage of urine to receive a kidney transplant in a safer condition. Aspects of the etiology and the way of evaluation of such a group of patients are discussed. The strategies and individualized therapeutic options are presented and compared with the author's experience based upon 25 children with urinary anomalies who received 28 kidney transplants. Nevertheless, the number of complications, mainly UTI, graft and patient survival rates are equivalent to the group of children with non-urological causes of ESRD. Patients with severe lower urinary tract abnormalities and ESRD may receive a kidney transplant with comparable success.     

Imaging of liver tumours in childhood

Primary liver tumours account for 6% of all paediatric neoplasms. In a child with a clinical abdominal mass, imaging (in consultation with a paediatric surgeon) aims to confirm the intrahepatic site, determine its likely resectability, exclude metastatic abdominal disease, and characterise the mass. The imaging in 44 patients with primary liver tumour over a 33-year period was reviewed and correlated with surgical/pathological findings. Characterising hepatic masses with ultrasound, computed tomography, nuclear medicine, and angiography is less important than determining its resectability and alerting the surgeon to vascular anomalies and the presence of metastatic disease. We conclude that a chest X-ray and ultrasound study are the primary methods for evaluation of a child with suspected hepatic mass. With careful attention to technique, the mass can be evaluated and an assessment made of tumour resectability preoperatively. Based on this review, we propose a schema for the initial evaluation of suspected hepatic masses in children. Offprint requests to: J. F. de Ocampo     

Conversational behaviour of children with Asperger syndrome and conduct disorder

BACKGROUND: Social communication problems in individuals who have Asperger syndrome constitute one of the most significant problems in the syndrome. This study makes a systematic analysis of the difficulties demonstrated with the use of language (pragmatics) in adolescents who have Asperger syndrome. METHOD: Recent advances in discourse analysis were applied to conversational samples from a group of children with Asperger syndrome and a matched control group of children with severe conduct disorder. Two types of conversation were sampled from each group, differing in emotional content. RESULTS: The results showed that in these contexts children with Asperger syndrome were no more verbose as a group than controls, though they showed a tendency to talk more in more emotion-based conversations. Children with Asperger syndrome, as a group, performed similarly to control subjects in ability to respond to questions and comments. However, they were more likely to show responses which were problematic in both types of conversation. In addition, individuals with Asperger syndrome showed more problems in general conversation than during more emotionally and socially loaded topics. The group with Asperger syndrome was found to contain a small number of individuals with extreme verbosity but this was not a reliable characteristic of the group as a whole.     

儿童吉兰-巴雷综合征需要辅助呼吸的危险因素分析

目的 研究儿童吉兰-巴雷综合征（Guillain-Barré syndrome,GBS）需要辅助呼吸的危险因素。 方法 回顾性收集107例GBS患儿的临床资料。根据是否需要辅助呼吸,分为需要辅助呼吸组（n=16）和不需要辅助呼吸组（n=91）。比较两组患儿的临床资料,采用多因素logistic回归分析法分析GBS患儿需要辅助呼吸的危险因素。 结果 107例GBS患儿中,16例患儿需要辅助呼吸,发生率为15.0%。需要辅助呼吸组面肌和/或延髓肌无力比例高于不需要辅助呼吸组,起病到病情高峰期天数短于不需要辅助呼吸组,首次就诊休斯功能分级量表得分高于不需要辅助呼吸组（均P<0.05）。面肌和/或延髓肌无力、起病到病情高峰期天数短是GBS患儿需要辅助呼吸的危险因素（分别OR=5.053、1.239,P<0.05）。 结论 面肌和/或延髓肌无力和起病到病情高峰期天数的缩短可能增加GBS需要辅助呼吸的风险。 引用格式:     

Maternal experiences of peanut avoidance during pregnancy/lactation: An in-depth qualitative study

In 1998 the Department of Health Committee on Toxicity of Chemicals in Food, Consumer Products and the Environment issued a report to British general practitioners, which advised that pregnant mothers with a family history of atopy may wish to avoid peanuts during pregnancy/lactation. To explore the lived-in experience of mothers who avoided/did not avoid peanuts during pregnancy/lactation in the light of the information issued. A qualitative approach, using unstructured in-depth interviews to explore what it was like for mothers to have a particular experience. A purposive sample frame was designed to ensure a maximum variation of participants. Forty-two interviews were conducted: 25 participants avoided peanuts; 15 with a family history of atopy and 10 with no such history. Seventeen participants did not avoid peanuts; 10 with a family history of atopy and seven with no such history. Emergent themes included: variations in information provision, a lack of clarity in relation to information and advice about peanut avoidance, the risks entailed and the introduction of peanuts to the developing child's diet; the importance of atopy in influencing participants' decisions to avoid peanuts and the importance of individual's choice in the decision making process. There was a significant difference in family size with respect to avoidance behaviour with 'avoider' families being smaller (p = 0.007). Avoidance was more likely in single child families (71% vs. 53%) although this difference was not significant. Improvements to the experience of avoidance and/or non-avoidance were primarily focused around provision of information and advice. In particular, a need for clear, consistent factual information and advice about the real risks associated with peanut consumption during pregnancy/lactation, and to whom these risks apply.     

THE CONFUSED IDENTITY OF CANTRELL'S PENTAD: ECTOPIA CORDIS IS RELATED EITHER TO THORACOSCHISIS OR TO A DIAPHRAGMATIC HERNIA WITH AN OMPHALOCELE

To find out if Cantrell's pentad is a single entity, four cases of ectopia cordis were studied and compared with cases in the literature. Our cases had the heart outside the thorax and had two to four other features of the association. In one case the thoracic organs had apparently escaped through a diaphragmatic hernia into an omphalocele, and in the others via a thoracoschisis with an abdominal defect, either a supraumbilical hernia or a gastroschisis. According to these cases and those from the literature, it is proposed that there are two major mechanisms leading to ectopia cordis: (1) a reversed diaphragmatic hernia in the case of a large diaphragmatic defect and an omphalocele, and (2) through a sterno-costal defect, with gastroschisis or a supraumbililical abdominal defect. As omphaloceles and major diaphragmatic defects are probably pathogenetically distinct from thoraco- and thoracogastroschisis, it is important to distinguish these groups of anomalies, rather than be concerned as to their relationship with Cantrell's pentad.     

Talking with caregivers of children living in the community with ventricular assist devices

A VAD is a mechanical pump used to support the functioning of a failing heart. As a pediatric therapy, a VAD is used as a temporary solution for poor heart function, a bridge to transplantation or recovery, or a destination therapy. The goal of this qualitative study was to explore the perspectives of family and professional caregivers of children who are supported by VADs in outpatient settings. Semi‐structured interviews were conducted with 22 caregivers of school‐aged children discharged home on VAD support. Interviews were transcribed, and data were analyzed using qualitative content analysis. Caregivers identified issues facing children on VAD support in the contexts of home, school, and other childhood places including being physically connected to a device; experiencing changes; living a medical life; negotiating restrictions; cost of care; family, kinship, and community; and, present and future living. While a child with a VAD may have much in common with other medically complex children, the technological complications and risks of living with a VAD are uniquely identified by caregivers as an issue, especially when considering the way that children with a VAD are connected to their device—implanted yet exterior, mobile yet restricted, and autonomous yet dependent.     

The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia

Duodenal atresia is associated with a wide variety of congenital malformations. Trisomy 21 occurs in approximately one-thirds of infants with duodenal atresia. Congenital heart disease in patients with trisomy 21 and duodenal atresia is well known. However, the frequency and spectrum of congenital heart defects in infants with duodenal atresia and a normal karyotype has not been outlined in the literature. Therefore, we conducted a retrospective chart review to clarify our knowledge about this population. Retrospective review of the medical record was performed on patients with duodenal atresia/stenosis from January 1995 to September 2007. Demographic data included birth weight and gestational age. Variables of interest included cardiac defects and karyotype. Surgical repair for duodenal and cardiac malformations were reviewed. Ninety-four patients with duodenal atresia/stenosis were identified. Average gestational age was 36 weeks and birth weight was 2,536 g. Trisomy 21 was identified in 39 (41%) patients. Overall, 37 patients (39.3%) had a congenital heart defect. Defects were identified in 24 (61.5%) patients with trisomy 21, when compared to 13 (23.6%) patients with a normal karyotype. Of the patients with congenital heart defects and trisomy 21, 11 (28.2%) required operative repair compared to the 6 (10.9%) patients with a defect and normal karyotype. Therefore, in patients with duodenal atresia, the presence of trisomy 21 carries a relative risk of 2.61 for congenital heart defects, and relative risk of 2.59 for open heart surgery. In patients with duodenal atresia, the presence of trisomy 21 carries a 2.5-fold increased risk of cardiac defect and the same increased risk for repairing a cardiac defect.     

Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach

Two patients with incomplete pentalogy of Cantrell are described. The first was a girl with a large omphalocele with evisceration of the heart, liver and intestines with an intact sternum. Echocardiography showed profound intracardiac defects. The girl died 33 h after birth. The second patient was a female fetus with ectopia cordis (EC) without intracardiac anomalies; a large omphalocele with evisceration of the heart, stomach, spleen and liver; a hypoplastic sternum and rib cage; and a scoliosis. The pregnancy was terminated. A review of patients described in the literature is presented with the intention of finding prognostic factors for an optimal approach to patients with the pentalogy of Cantrell. In conclusion the prognosis seems to be poorer in patients with the complete form of pentalogy of Cantrell, EC, and patients with associated anomalies. Intracardial defects do not seem to be a prognostic factor. Statement of financial support: no financial assistance was received.     

Inappropriately high plasma insulin levels in suspected perinatal asphyxia

The aim of this study was to determine differences in levels of the major hormones responsible for glucose homeostasis (insulin and glucagon) in babies with acute neonatal encephalopathy secondary to perinatal asphyxia and to correlate these with outcome. In a prospective observational study, plasma insulin, C-peptide, glucagon and serum glucose levels were determined using standard techniques at specified times in term babies with a diagnosis on admission of perinatal asphyxia or acute neonatal encephalopathy. The setting comprised two university-affiliated, regional, tertiary level neonatal intensive care units. Thirty-one babies with a diagnosis of perinatal asphyxia or acute neonatal encephalopathy were entered into the study over 15 months and neurodevelopmental outcomes at 18 months of age for 28 babies were available for analysis. Babies with a poor neurodevelopmental outcome had significantly higher insulin and C-peptide levels than those who had a good outcome. Glucose delivery, serum glucose and glucagon levels did not differ significantly between the babies with a poor outcome and those with a good outcome. In conclusion, babies with significant foetal or neonatal asphyxia frequently have inappropriately high plasma insulin levels. This, either alone or in combination with other hormonal disturbances, may lead to the hypoglycaemia often associated with severe asphyxia and may predict a poor outcome.     

Berlin heart ventricular assist device as a long‐term bridge to transplantation in a Fontan patient with failing single ventricle

The use of VADs as a BTT in children with heart failure has increased due to enhanced device design and reliability, leading to improved survival, functional capacity, and quality of life. However, the use of VADs in patients with Fontan physiology as a BTT is rare with few case reports. Here, we describe a case of implantation of the Berlin VAD as a BTT for 179 days, one of the longest reported periods of mechanical support, in a child with failing single ventricle.     

Treatment situation of male hypogonadotropic hypogonadism in pediatrics and proposal of testosterone and gonadotropins replacement therapy protocols

Male hypogonadotropic hypogonadism (MHH), a disorder associated with infertility, is treated with testosterone replacement therapy (TRT) and/or gonadotropins replacement therapy (GRT) (TRT and GRT, together with HRT hormone replacement therapy). In Japan, guidelines have been set for treatment during adolescence. Due to the risk of rapid maturation of bone age, low doses of testosterone or gonadotropins have been used. However, the optimal timing and methods of therapeutic intervention have not yet been established. The objective of this study was to investigate the current situation of treatment for children with MHH in Japan and to review a primary survey involving councilors of the Japanese Society for Pediatric Endocrinology and a secondary survey obtained from 26 facilities conducting HRT. The subjects were 55 patients with MHH who reached their adult height after HRT. The breakdown of the patients is as follows: 7 patients with Kallmann syndrome, 6 patients with isolated gonadotropin deficiency, 18 patients with acquired hypopituitarism due to intracranial and pituitary tumor, 22 patients with classical idiopathic hypopituitarism due to breech delivery, and 2 patients with CHARGE syndrome. The mean age at the start of HRT was 15.7 yrs and mean height was 157.2 cm. The mean age at reaching adult height was 19.4 yrs, and the mean adult height was 171.0 cm. The starting age of HRT was later than the normal pubertal age and showed a significant negative correlation with pubertal height gain, but it showed no correlation with adult height. As for spermatogenesis, 76% of the above patients treated with hCG-rFSH combined therapy showed positive results, though ranging in levels; impaired spermatogenesis was observed in some with congenital MHH, and favorable spermatogenesis was observed in all with acquired MHH. From the above, we propose the establishment of a treatment protocol for the start low-dose testosterone or low-dose gonadotropins by dividing subjects into two groups to determine different treatment protocols, acquired and congenital MHH, and to conduct them at a timing closer to the onset of puberty, namely, at a timing near entrance to junior high school. We also propose a new HRT protocol using preemptive FSH therapy prior to GRT aimed at achieving future fertility in patients with congenital MHH.     

Comparison of conventional to intensity modulated radiation therapy for abdominal neuroblastoma

OBJECTIVE: To compare three different techniques of irradiating abdominal neuroblastoma. PATIENTS AND METHODS: Six children with a median age of 4.1 years underwent radiotherapy (RT) to the primary site as part of treatment for high-risk neuroblastoma. Four had midline disease while two had well-lateralized lesions. Three different RT techniques were compared. Technique A used parallel-opposed AP/PA fields prescribed to the midplane of the patient. For Techniques B and C, intensity modulated radiation therapy (IMRT) plans were developed using inverse treatment planning with a sliding window or dynamic multileaf collimator approach, seven coplanar beams, and a 0.25 x 0.5 cm minimum beam resolution. The clinical target volume (CTV) included the tumor present prior to second look surgery but after induction chemotherapy with a 1.5 cm margin. The planning target volume (PTV) was the CTV with a 0.5 cm margin. The CTV was planned to receive 100% of the prescribed dose. For Technique C, the vertebral bodies adjacent to the tumor were included in the PTV to minimize heterogeneity of dose. Six MV photons were used for all techniques. Bilateral kidneys, liver, spine, spleen, stomach and bilateral iliac crests were contoured. RESULTS: Dose to the PTV and CTV were not significantly different using the three techniques. In comparison to Technique A, Techniques B and C delivered a lower mean dose to the bilateral kidneys in the four children with midline tumors but not the two children with a lateralized tumor where the contralateral kidney received a higher mean dose. Dose to the spine was less homogeneous with Technique B compared to Techniques A and C. The spleen, liver and stomach mean doses were higher using Techniques B and C compared to Technique A. CONCLUSION: Although Technique C was the best method of RT delivery in midline tumors with respect to kidney doses, this was at a cost of a higher mean dose to the liver, stomach, and spleen. This, together with the theoretical increase in secondary malignancies, should be considered when treating a child with IMRT techniques. IMRT was not found to be better than the conventional AP/PA field for lateralized tumors.     

L-asparaginase-induced severe necrotizing pancreatitis successfully treated with percutaneous drainage

L-asparaginase is a key component of the antileukemic therapy in children with acute lymphoblastic leukemia (ALL). Pancreatitis has been noted to be a complication in 2-16% of patients undergoing treatment with L-asparaginase for a variety of pediatric neoplasms. Most cases of pancreatitis associated with L-asparaginase toxicity are self-limiting and respond favorably to nasogastric decompression and intravenous hyperalimentation. However, in rare instances, hemorrhagic pancreatitis or necrosis may occur. L-asparaginase-induced pancreatitis is an uncommon but potential lethal complication of the treatment of leukemia. We present a pediatric patient with leukemia and a severe, L-asparaginase-induced necrotizing pancreatitis, treated successfully with percutaneous drainage used to flush the infected necrotic parts.     

Diagnosis and management of asthma in preschoolers: A Canadian Thoracic Society and Canadian Paediatric Society position paper

Asthma often starts before six years of age. However, there remains uncertainty as to when and how a preschool-age child with symptoms suggestive of asthma can be diagnosed with this condition. This delays treatment and contributes to both short- and long-term morbidity. Members of the Canadian Thoracic Society Asthma Clinical Assembly partnered with the Canadian Paediatric Society to develop a joint working group with the mandate to develop a position paper on the diagnosis and management of asthma in preschoolers.In the absence of lung function tests, the diagnosis of asthma should be considered in children one to five years of age with frequent (≥8 days/month) asthma-like symptoms or recurrent (≥2) exacerbations (episodes with asthma-like signs). The diagnosis requires the objective document of signs or convincing parent-reported symptoms of airflow obstruction (improvement in these signs or symptoms with asthma therapy), and no clinical suspicion of an alternative diagnosis. The characteristic feature of airflow obstruction is wheezing, commonly accompanied by difficulty breathing and cough. Reversibility with asthma medications is defined as direct observation of improvement with short-acting ß₂-agonists (SABA) (with or without oral corticosteroids) by a trained health care practitioner during an acute exacerbation (preferred method). However, in children with no wheezing (or other signs of airflow obstruction) on presentation, reversibility may be determined by convincing parental report of a symptomatic response to a three-month therapeutic trial of a medium dose of inhaled corticosteroids with as-needed SABA (alternative method), or as-needed SABA alone (weaker alternative method). The authors provide key messages regarding in whom to consider the diagnosis, terms to be abandoned, when to refer to an asthma specialist and the initial management strategy. Finally, dissemination plans and priority areas for research are identified.     

Is attention deficit hyperactivity disorder a valid diagnosis in the presence of high IQ? Results from the MGH Longitudinal Family Studies of ADHD

BACKGROUND: The aim of this study was to assess the validity of diagnosing attention deficit/hyperactivity disorder (ADHD) in high IQ children and to further characterize the clinical features associated with their ADHD. METHODS: We operationalized giftedness/high IQ as having a full scale IQ >/=120. We identified 92 children with a high IQ who did not have ADHD and 49 children with a high IQ that met diagnostic criteria for ADHD who had participated in the Massachusetts General Hospital Longitudinal Family Studies of ADHD. RESULTS: Of our participants with ADHD and a high IQ, the majority (n = 35) met criteria for the Combined subtype. Relative to control participants, children with ADHD and high IQ had a higher prevalence rate of familial ADHD in first-degree relatives, repeated grades more often, had a poorer performance on the WISC-III Block Design, had more comorbid psychopathology, and had more functional impairments across a number of domains. CONCLUSIONS: Children with a high IQ and ADHD showed a pattern of familiality as well as cognitive, psychiatric and behavioral features consistent with the diagnosis of ADHD in children with average IQ. These data suggest that the diagnosis of ADHD is valid among high IQ children.     

Genetic resources for the neonatologist

Diagnosing genetic disorders and counselling the parents of babies with possible genetic conditions takes up a significant proportion of a neonatologist's clinical time. This article provides a guide to establishing genetic tools and a reference library on a neonatal unit. The availability of good resources may heighten staff awareness of genetic aetiologies in babies with subtle features, and enable possible diagnoses to be considered and a genetics consultation sought. In addition, when a diagnosis is made, information is then readily available to guide the neonatologist in his or her consultations with parents. It is not intended that the tools outlined here should be a replacement for the genetics consultation; their role is merely to facilitate the interaction of neonatologists with geneticists, to the benefit of the parents and the baby.