Abstract：
:Arterial hypertension in childhood is less frequent as compared to adulthood but is more likely to be secondary to an underlying disorder. After ruling out more obvious causes, some patients still present with strongly suspected secondary hypertension of yet unknown etiology. A number of these children have hypertension due to single gene mutations inherited in an autosomal dominant or recessive fashion. The finding of abnormal potassium levels (low or high) in the presence of suppressed renin secretion, and metabolic alkalosis or acidosis should prompt consideration of these familial diseases. However, mild hypertension and the absence of electrolyte abnormalities do not exclude hereditary conditions. In monogenic hypertensive disorders, three distinct mechanisms leading to the common final pathway of increased sodium reabsorption, volume expansion, and low plasma renin activity are documented. The first mechanism relates to gain-of-function mutations with a subsequent hyperactivity of renal sodium and chloride reabsorption leading to plasma volume expansion (e.g., Liddle's syndrome, Gordon's syndrome). The second mechanism involves deficiencies of enzymes that regulate adrenal steroid hormone synthesis and deactivation (e.g., subtypes of congenital adrenal hyperplasia, apparent mineralocorticoid excess (AME)). The third mechanism is characterized by excessive aldosterone synthesis that escapes normal regulatory mechanisms and leading to volume-dependent hypertension in the presence of suppressed renin release (glucocorticoid remediable aldosteronism). Hormonal studies coupled with genetic testing can help in the early diagnosis of these disorders.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Simonetti GD,Mohaupt MG,Bianchetti MGdoi
10.1007/s00431-011-1440-7subject
Has Abstractpub_date
2012-10-01 00:00:00pages
1433-9issue
10eissn
0340-6199issn
1432-1076journal_volume
171pub_type
杂志文章,评审abstract：:A pure growth of Branhamella catarrhalis was obtained from a purulent bronchial exudate in a 28-month-old Rwandese girl, hospitalized for acute inspiratory dyspnoea with fever. The outcome was favourable under treatment with ampicillin, although the isolate was shown to produce a beta-lactamase in vitro. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442307
更新日期：1985-03-01 00:00:00
abstract：UNLABELLED:Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CC...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-0977-x
更新日期：2002-11-01 00:00:00
abstract：:Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL) are among the most common malignancies of childhood. (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) can be employed for accurate staging, treatment planning, and response assessment in pediatric patients with lymphomas, taking advantage of the inc...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-013-1993-8
更新日期：2013-06-01 00:00:00
abstract：UNLABELLED:The first live-attenuated Oka strain varicella vaccines needed to be stored at -20 degrees C. Reformulation of this vaccine by SmithKline Beecham Biologicals has provided a vaccine shelf life of up to 2 years when stored at +4 degrees C to +8 degrees C. In this study the immunogenicity and reactogenicity of ...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF01957158
更新日期：1996-08-01 00:00:00
abstract：UNLABELLED:In acute-phase Kawasaki disease, neutrophils cause injury to the coronary arterial endothelium through the production of elastase. Previous research has demonstrated the modulation of neutrophil function and kinetics, such as development and maturation, by granulocyte colony-stimulating factor (G-CSF). To ex...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-1018-5
更新日期：2002-10-01 00:00:00
abstract：:When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease. ...
journal_title：European journal of pediatrics
pub_type： 信件
doi：10.1007/s00431-001-0890-8
更新日期：2002-03-01 00:00:00
abstract：:Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical interventions have changed the survival of children. A search for articles published in the PubMed database on the latest...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-019-03531-4
更新日期：2020-03-01 00:00:00
abstract：:Given the worldwide increase prevalence of overweight, obesity, and nonalcoholic fatty liver disease (NAFLD), the objective of this study was to evaluate whether the triglycerides and glucose (TyG) index is associated with hepatic steatosis in children with overweight or obesity. Apparently healthy children aged 5‑17 ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-021-03951-1
更新日期：2021-01-25 00:00:00
abstract：:We studied the incidence of IgG subclass deficiency in children with recurrent bronchitis. Recurrent bronchitis was defined as three or more episodes a year during at least 2 consecutive years, of bronchopulmonary infection, productive cough with or without fever and/or diffuse râles by physical examination in the abs...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02072228
更新日期：1992-04-01 00:00:00
abstract：:Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and neurodegeneration. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Over the period 19...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-010-1222-7
更新日期：2010-11-01 00:00:00
abstract：:Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistiocytic pleocytosis w...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF00443367
更新日期：1983-06-01 00:00:00
abstract：UNLABELLED:Papillomas of the genital region are rare benign tumours causing sanguineous vaginal discharge in prepubertal girls. We report on a papilloma of the cervix in a 2-year-old girl. We characterize the tumour immunohistochemically and give a brief review about the current literature. CONCLUSION:Genital tract pa...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s004310050609
更新日期：1997-04-01 00:00:00
abstract：:Soon after birth a 36-week-gestational age, appropriate for dates, newborn infant developed hyperinsulinaemic hypoglycaemia which responded to diazoxide and glucose infusion. While normoglycaemic, he became increasingly ill with high lactate, pyruvate, and alanine levels. Provocation tests suggested a defect in lactat...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00496802
更新日期：1983-12-01 00:00:00
abstract：:Small for gestational age (SGA) infants are known to develop relatively mild transient hyperbilirubinaemia, especially in comparison with premature infants. This may be interpreted as an index of accelerated maturation of particular vital functions. In the present study 12 SGA infants, 12 appropriate for gestational a...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442433
更新日期：1979-11-01 00:00:00
abstract：UNLABELLED:Two years after an accident resulting in either a mild head injury or a fractured bone, two groups of 22 children each, aged 4-14 years, were examined for the existence of any neurobehavioural symptoms by means of a standardized questionnaire filled out by their caretakers. Selection of the children was base...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051061
更新日期：1999-03-01 00:00:00
abstract：:An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in f...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441792
更新日期：1985-11-01 00:00:00
abstract：UNLABELLED:In 135 women and 85 men who initially presented for tall stature, the outcome in treated (56 women and 33 men; cases) and untreated (controls) was investigated. At the time of height prediction, cases were significantly taller (P < or = 0.03) than the controls, they had higher target heights (P < 0.001) and ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050740
更新日期：1997-12-01 00:00:00
abstract：:The objective of this study was to determine the outcomes of Croatian children with biliary atresia. Health records of infants born in Croatia between January 1, 1992 and December 31, 2006 who were diagnosed with biliary atresia and treated at a single university center were reviewed. Survival rates were calculated wi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-010-1266-8
更新日期：2010-12-01 00:00:00
abstract：:Four months after termination of successful chemotherapy for epipharyngeal B-non-Hodgkin lymphoma, an enlarging anterior mediastinal mass was discovered in a 15-year-old boy. There was no other suspicion of tumour recurrence. A simple thymic rebound was likely and a conservative management was chosen. Follow up for mo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01958950
更新日期：1992-02-01 00:00:00
abstract：:The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-1965-z
更新日期：2013-06-01 00:00:00
abstract：:Infiltration of the stomach wall by air, first described by Fraenkel in 1889 [3], is a very rare condition. We describe the first reported case of gastric pneumatosis occurring in a child with complex congenital heart disease after cardiac surgery. ...
journal_title：European journal of pediatrics
pub_type： 信件
doi：10.1007/s004310051338
更新日期：2000-07-01 00:00:00
abstract：UNLABELLED:The primary objective of this review was to assess the diagnostic accuracy of voiding urosonography (VUS) in detecting reflux (VUR). As a secondary objective, the reported technical suggestions and diagnostic mistakes were shown to improve the examination protocol and provide the most accurate results. Using...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-0954-4
更新日期：2002-07-01 00:00:00
abstract：UNLABELLED:Aldosterone synthase (P450c11AS) deficiency is a rare autosomal recessive disorder, presenting with severe salt-losing in early infancy. It is caused by inactivating mutations of the CYP11B2 gene. Here, we describe three unrelated Asian patients who have clinical and hormonal features compatible with aldoste...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-012-1792-7
更新日期：2012-10-01 00:00:00
abstract：:A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findi...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF01959398
更新日期：1990-04-01 00:00:00
abstract：:W170, i.e., the work rate at a heart frequency of 170 beats per minute, and maximal oxygen uptake were determined in one performance in 20 boys and 23 girls from 6 to 16 years of age on a bicycle ergometer. The results were related to normal values according to age and height. In different age and sex groups correlati...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00463741
更新日期：1976-06-08 00:00:00
abstract：:Scimitar syndrome is a rare congenital cardiopulmonary malformation characterized by hypoplasia of the right lung and drainage of the right pulmonary veins into the vena cava inferior. It may also be associated with cardiac dextroversion and anomalies of the tracheobronchial system, cardiovascular system, and diaphrag...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-010-1153-3
更新日期：2010-10-01 00:00:00
abstract：:The case history of a 10-year-old boy with chronic granulomatous disease (CGD) and gastric obstruction is presented. First abdominal symptoms occurred at 4 years of age when antral narrowing was detected. Due to unresponsiveness to antibiotic and steroid treatment, salazosulfapyridine therapy was initiated. Objective ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02024330
更新日期：1989-10-01 00:00:00
abstract：:Inappropriate use of antibiotics in human and animal is one of the causes of antimicrobial resistance. This study evaluates the prevalence and predictors of antibiotic use among pediatric patients visiting the Emergency Department (ED) in Malaysia. A retrospective cross-sectional study was conducted in the ED of a ter...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03560-z
更新日期：2020-05-01 00:00:00
abstract：:Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957752
更新日期：1992-07-01 00:00:00
abstract：:Iliac vessel disruption following blunt trauma is an unusual presentation, particularly in the absence of an orthopaedic injury. We present the unique case of a 14-year-old boy who sustained a blunt bicycle handlebar impalement that resulted in complete transection of the external iliac artery and laceration of the ex...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-012-1767-8
更新日期：2012-12-01 00:00:00
