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 aldosterone synthase deficiency and identify their CYP11B2 mutations. Patient 1 was a Thai female infant. Patient 2 was an Indian boy, and patient 3 was a Thai male infant. All subjects presented at the age of 1-2 months with diarrhea, failure to thrive, and severe dehydration. Their plasma electrolytes showed hyponatremia, hyperkalemia, and acidosis. All patients had normal cortisol response and had elevated plasma renin activity with low aldosterone levels. The entire coding regions of the CYP11B2 gene were amplified by polymerase chain reaction and sequenced. Patient 1 was homozygous for a previously described mutation, p.T318M. Patient 2 was homozygous for a novel c.666delC mutation inherited from both parents resulting in p.223F>Sfsx295. No CYP11B2 mutation was detected in patient 3. CONCLUSIONS:We report the first CYP11B2 defects in Southeast Asian families responsible for aldosterone synthase deficiency and identified a novel CYP11B2 mutation. However, the affected gene(s) responsible for primary hypoaldosteronism other than CYP11B2 remain to be determined.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Klomchan T,Supornsilchai V,Wacharasindhu S,Shotelersuk V,Sahakitrungruang Tdoi
10.1007/s00431-012-1792-7subject
Has Abstractpub_date
2012-10-01 00:00:00pages
1559-62issue
10eissn
0340-6199issn
1432-1076journal_volume
171pub_type
杂志文章abstract：:The United Nations Convention of Children's Rights (UNCRC) introduced in 1989 has generated a global movement for the protection of children's rights and has brought about a paradigm change in how children are perceived. Pediatric healthcare professionals are interacting with children and therefore with children's rig...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-010-1205-8
更新日期：2011-01-01 00:00:00
abstract：UNLABELLED:Infection is a well recognised cause of spontaneous early preterm labour. Preterm labour of infective aetiology is refractory to the use of tocolytic agents and affected women have a higher risk of subsequent chorio-amnionitis and neonatal infection. Antibiotics used prophylactically for the prevention of pr...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/pl00014313
更新日期：1999-12-01 00:00:00
abstract：:So far, a recognizable pattern of clinical symptoms for child sexual abuse (CSA), especially in young male children, is lacking. To improve early recognition of CSA, we reviewed physical complaints, physical examination, and tests on sexually transmitted infections (STIs) in confirmed victims (predominantly preschool ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-2996-7
更新日期：2017-10-01 00:00:00
abstract：:In comparison with other diseases, febrile convulsion, despite its excellent prognosis, is a cause of high anxiety among mothers. The objective of our study was to evaluate the knowledge, concerns, attitudes and practices of the mothers of children with first febrile convulsion. A prospective questionnaire-based study...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0724-z
更新日期：2009-02-01 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:Methanol poisoning is not frequently observed in children; however, without treatment, serious intoxication can be complicated by visual impairment, coma, metabolic acidosis, respiratory and circulatory insufficiency and death. Treatment in a paediatric intensive care is therefore compulsory. Methanol is met...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-004-1588-5
更新日期：2005-03-01 00:00:00
abstract：:We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenog...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00447379
更新日期：1979-10-01 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：UNLABELLED:A retrospective analysis of 218 bunk-bed accidents and a random sample survey with 991 family interviews were performed in order to establish guidelines for bunk-bed accident prevention. Falls from the top bed during sleep (35.1%) or while playing (34.4%) and falling off the ladder (23.2%) are the leading ca...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051303
更新日期：2000-06-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s004310050690
更新日期：1997-09-01 00:00:00
abstract：:Nineteen (12 male, 7 female) children, who have received craniospinal irradiation for the treatment of a brain tumour distant from the hypothalamic-pituitary axis, resulting in growth hormone (GH) deficiency (CS-PRGHD), have been treated with GH. Eight have completed growth. Comparison has been made with the growth of...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442471
更新日期：1988-08-01 00:00:00
abstract：:Several methods have been used for lung function testing in the ventilated newborn. The interest in the field has been stimulated by the recent appearance of commercially available equipment for assessment of mechanical parameters and of functional residual capacity in this group. Nevertheless, lung function testing i...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02179669
更新日期：1994-01-01 00:00:00
abstract：:We report here our findings in two Japanese siblings who experienced recurrent bacterial and viral infections since early infancy. Recent symptoms included diarrhoea, conjunctivitis, rashes, headache, sore throat, joint pain, vomiting and vertigo, all similar to those seen in toxic shock syndrome, except for shock. Th...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01956412
更新日期：1994-05-01 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 report a case of an infected subgaleal hematoma caused by an unusual micro-organism in a previously healthy 11-month-old girl. Our patient presented at the emergency department with an increasing scalp swelling for 2 weeks, and culture of the evacuated fluid yielded Streptococcus pneumoniae. Although she was born a...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-009-0922-3
更新日期：2009-06-01 00:00:00
abstract：:Mitochondrial disorders are a clinically and biochemically diverse group of disorders which may involve multiple organ systems. General anaesthesia (GA) poses a potential risk of decompensation in children with mitochondrial disorders, and there is little guidance for anaesthetists and other clinicians regarding the o...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-016-2813-8
更新日期：2017-01-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050010
更新日期：2000-01-01 00:00:00
abstract：:A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01954516
更新日期：1994-04-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957279
更新日期：1990-08-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-1135-1
更新日期：2003-04-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00477053
更新日期：1977-11-04 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-005-1626-y
更新日期：2005-05-01 00:00:00
abstract：:By November 1994, 39 pregnancies had been completed in phenylketonuric mothers. Dietary control was post-conception in 6 and 2 of these offspring died of congenital heart disease and 1 other needed surgery for coarctation. There were no heart defects in the 34 offspring of the 33 pregnancies following preconception di...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00014242
更新日期：1996-07-01 00:00:00
abstract：:We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymat...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00014323
更新日期：1999-12-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957719
更新日期：1992-08-01 00:00:00
abstract：UNLABELLED:Endocrine dysfunction and damage of the epiphysial growth plates have been reported as late effects of antileukaemic treatment during childhood. It is a common opinion that cranial irradiation (CI) is the most important factor for blunted growth. Accordingly, recent therapeutic strategies in acute lymphoblas...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050599
更新日期：1997-04-01 00:00:00
abstract：UNLABELLED:The surgical approach to the inguinal canal in girls is identical to that in boys. The sliding hernia which contains the ovary with or without the fallopian tube occurs occasionally in female patients. In our clinical experience, we found that a hydrocele in the labium, also presenting with an asymptomatic p...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-003-1226-7
更新日期：2003-07-01 00:00:00
abstract：:Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. On...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01956423
更新日期：1994-05-01 00:00:00
abstract：:The time of cord clamping in intrauterine growth-restricted (IUGR) neonates remains an area of uncertainty. This assessor-blinded randomized controlled trial compared the effects of delayed cord clamping (DCC) with early cord clamping (ECC) on the systemic blood flow (SBF) and cerebral hemodynamics in IUGR neonates of...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-021-03959-7
更新日期：2021-01-21 00:00:00
abstract：:A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3-methylglutaric aciduri...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442306
更新日期：1985-03-01 00:00:00
