Hypothalamic adipic hypernatraemia syndrome with normal osmoregulation of vasopressin.

Abstract:

UNLABELLED:Adipsic hypernatraemia is an uncommon disorder in childhood caused by a defect in the osmoregulation of thirst, leading to impairment of water homeostasis and chronic hyperosmolality of body fluids. Adipsia is often associated with an abnormality in osmoregulated vasopressin secretion due to the close proximity of the hypothalamic osmoreceptors that control thirst with those regulating vasopressin secretion. Hypothalamic lesions of diverse aetiology (vascular abnormalities, neoplasms, granulomatous diseases, trauma etc.) have been described in this syndrome. We report a 12-year-old boy with evident weight loss due to hypernatraemic dehydration with a selective defect in osmoregulation of thirst and normal vasopressin secretion with no demonstrable structural lesion. To date, only six paediatric patients with this condition have been described in the literature. CONCLUSION:Hypothalamic adipsic hypernatraemia syndrome must be suspected when a dehydrated patient denies thirst. The study of antidiuretic function is necessary because the osmoregulation of vasopressin secretion could be altered.

journal_name

Eur J Pediatr

authors

López-Capapé M,Golmayo L,Lorenzo G,Gallego N,Barrio R

doi

10.1007/s00431-004-1495-9

keywords:

subject

Has Abstract

pub_date

2004-10-01 00:00:00

pages

580-3

issue

10

eissn

0340-6199

issn

1432-1076

journal_volume

163

pub_type

杂志文章
  • Total parenteral nutrition associated cholestasis: a predisposing factor for sepsis in surgical neonates?

    abstract::Of 496 neonates and infants less than 1 year of age admitted to the paediatric surgical intensive care unit (PSICU) over a 5 year period (1983-1987), 94 required total parenteral nutrition (TPN) for more than 14 consecutive days, generally due to congenital anomalies of the digestive tract. Cholestasis occurred in 15 ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02171565

    authors: Bos AP,Tibboel D,Hazebroek FW,Bergmeijer JH,van Kalsbeek EJ,Molenaar JC

    更新日期:1990-02-01 00:00:00

  • Severe tick-borne encephalitis following passive immunization.

    abstract:UNLABELLED:We report on a 5-year-old girl with an unusually severe course of tick-borne encephalitis following passive immunization with specific hyperimmune globulin after a tick bite in an endemic area. Serial investigations of the CSF revealed intrathecal production of specific antibodies paralleled by increasing nu...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02002905

    authors: Waldvogel K,Bossart W,Huisman T,Boltshauser E,Nadal D

    更新日期:1996-09-01 00:00:00

  • Early fluid overload is associated with mortality and prolonged mechanical ventilation in extremely low birth weight infants.

    abstract::Recent studies revealed that fluid overload is associated with higher mortality in critically ill children and adults. This study aimed to evaluate the association between fluid overload in the first 3 days of life and mortality in extremely low birth weight infants. This single-center retrospective cohort study inclu...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-020-03654-z

    authors: Matsushita FY,Krebs VLJ,Ferraro AA,de Carvalho WB

    更新日期:2020-11-01 00:00:00

  • Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity.

    abstract:UNLABELLED:An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revea...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01957148

    authors: Matern D,Seydewitz H,Niederhoff H,Wiebusch H,Brandis M

    更新日期:1996-08-01 00:00:00

  • Female pseudohermaphroditism with complete masculinisation of the external genitalia in two siblings. A new entity?

    abstract::Complete masculinisation of the external genitalia (type V of Prader classification) is reported in two siblings with normal internal female genitalia, normal ovaries and a 46,XX chromosome constitution in different cell lines without any detectable source of exposure to androgen during pregnancy. ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00445596

    authors: Fryns JP,Kleczkowska A,Vandenberghe K,Haspeslagh M,Van den Berghe H

    更新日期:1984-06-01 00:00:00

  • Serum bile acids and their conjugates in breast-fed infants with prolonged jaundice.

    abstract::Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00491922

    authors: Tazawa Y,Yamada M,Nakagawa M,Konno T,Tada K

    更新日期:1985-05-01 00:00:00

  • A digital movement in the world of inactive children: favourable outcomes of playing active video games in a pilot randomized trial.

    abstract::This parallel randomized controlled trial was aimed to evaluate whether parameters as physical fitness, reaction times, self-perception and enjoyment levels, as well as parental and children perspectives, were affected by active video games in inactive and technologically preoccupied children. Data were collected in a...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s00431-019-03457-x

    authors: Coknaz D,Mirzeoglu AD,Atasoy HI,Alkoy S,Coknaz H,Goral K

    更新日期:2019-10-01 00:00:00

  • Essential fatty acid deficiency in well nourished young cystic fibrosis patients.

    abstract:UNLABELLED:Essential fatty acid deficiency is well known in cystic fibrosis patients, but its pathogenesis remains unclear. It might be related to protein-energy malnutrition which is a common feature of cystic fibrosis or to some specific defects in fatty acid metabolism. To avoid the deleterious effects of protein-en...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310050750

    authors: Roulet M,Frascarolo P,Rappaz I,Pilet M

    更新日期:1997-12-01 00:00:00

  • A survey of school's preparedness for managing anaphylaxis in pupils with food allergy.

    abstract::Allergic diseases are on the increase and can affect the child's well-being. The aim of this survey was to assess regional schools' preparedness in dealing with anaphylaxis following the publication of national and international guidelines for schools in 2014. The survey was developed in 2015 and distributed to school...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-020-03645-0

    authors: Raptis G,Perez-Botella M,Totterdell R,Gerasimidis K,Michaelis LJ

    更新日期:2020-10-01 00:00:00

  • Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.

    abstract::Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy and failure to thrive have been associated with SDS. A retrospective study was conducted to describe mutation...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-012-1908-0

    authors: Schaballie H,Renard M,Vermylen C,Scheers I,Revencu N,Regal L,Cassiman D,Sevenants L,Hoffman I,Corveleyn A,Bordon V,Haerynck F,Allegaert K,De Boeck K,Roskams T,Boeckx N,Bossuyt X,Meyts I

    更新日期:2013-05-01 00:00:00

  • Functional and genetic predisposition to rhinovirus lower respiratory tract infections in prematurely born infants.

    abstract::Term born infants are predisposed to human rhinovirus (HRV) lower respiratory tract infections (LRTI) by reduced neonatal lung function and genetic susceptibility. Our aim was to investigate whether prematurely born infants were similarly predisposed to HRV LRTIs or any other viral LRTIs. Infants born less than 36 wee...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-016-2780-0

    authors: Drysdale SB,Alcazar M,Wilson T,Smith M,Zuckerman M,Hodemaekers HM,Janssen R,Bont L,Johnston SL,Greenough A

    更新日期:2016-12-01 00:00:00

  • A previously healthy 15-year-old girl with high fever and progressive dyspnoea.

    abstract::A 15-year-old girl was admitted with a high fever and progressive malaise, vomiting, anorexia and abdominal complaints. She previously had a sore throat and unilateral painful swollen lymph nodes in the neck. Laboratory investigation indicated a bacterial infection. Blood cultures were taken. There was infiltrate in t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-007-0628-3

    authors: van Delft E,Vandewall M,Curiel FB,Rutten MJ,Schneeberger PM

    更新日期:2008-06-01 00:00:00

  • Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    abstract::A mother carrying a fetus affected with 21-hydroxylase deficiency received prenatal treatment with dexamethasone (0.5 mg, tid, p.o.) started from the very beginning of the 8th week of gestation. Prenatal diagnosis had to rely on amniocentesis with karyotyping and steroid hormone determination, because HLA and DNA data...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02190657

    authors: Wudy SA,Homoki J,Teller WM

    更新日期:1994-08-01 00:00:00

  • Glycogen storage disease type I: pathophysiology of liver adenomas.

    abstract:UNLABELLED:Of the many complications associated with glycogen storage disease type I, hepatic tumours cause great concern because of their malignant potential and the current difficulties in monitoring them. Hepatic adenomas occur in 22%-75% of affected adults, according to the population studied, and from those report...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s00431-002-1002-0

    authors: Lee PJ

    更新日期:2002-10-01 00:00:00

  • Prospective study of the burden of rotavirus gastroenteritis in Danish children and their families.

    abstract::This was the first study to characterize the total burden of rotavirus gastroenteritis (RVGE) at both hospital and general physician (GP) clinics in Denmark, and also the first to confirm rotavirus (RV) as the leading cause of acute gastroenteritis (GE) among children <5 years in GP clinics nationwide. Several aspects...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00431-011-1465-y

    authors: Hoffmann T,Iturriza M,Faaborg-Andersen J,Kraaer C,Nielsen CP,Gray J,Hogh B

    更新日期:2011-12-01 00:00:00

  • Subependymal pseudocysts in the neonate.

    abstract::Serial ultrasound examinations were performed through the anterior fontanelle to detect and follow subependymal pseudocysts (SP) in 19 neonates without severe malformations. A high-resolution real-time sector scanner was employed. In 8 cases the SP involved both lateral ventricles, in 11 cases they were unilateral and...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00595915

    authors: Zorzi C,Angonese I

    更新日期:1989-02-01 00:00:00

  • The number and function of circulating endothelial progenitor cells in patients with Kawasaki disease.

    abstract::Kawasaki disease (KD) is associated with coronary artery injury. Studies have shown that the endothelial progenitor cell (EPC) participates in the process of arterial repair. Data have been reported that the number of EPC increased significantly in the subacute phase of KD. However, until now, there are no data about ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-009-1014-0

    authors: Xu MG,Men LN,Zhao CY,Zhao X,Wang YX,Meng XC,Shen DR,Meng BY,Zhang Q,Wang T

    更新日期:2010-03-01 00:00:00

  • Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.

    abstract:UNLABELLED:Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic a...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02532526

    authors: Hebestreit H,Wanders RJ,Schutgens RB,Espeel M,Kerckaert I,Roels F,Schmausser B,Schrod L,Marx A

    更新日期:1996-12-01 00:00:00

  • A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome.

    abstract:UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310100840

    authors: Lang-Muritano M,Biason-Lauber A,Gitzelmann C,Belville C,Picard Y,Schoenle EJ

    更新日期:2001-11-01 00:00:00

  • Costs of vitamin D testing and prescribing among children in primary care.

    abstract::Vitamin D has attracted considerable interest in recent years, with a marked increase in diagnosis of vitamin D deficiency seen among children in clinical practice in the UK. The economic implications of this change in diagnostic behaviour have not been explored. We performed a cohort study to examine longitudinal tre...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-2986-9

    authors: Basatemur E,Hunter R,Horsfall L,Sutcliffe A,Rait G

    更新日期:2017-10-01 00:00:00

  • The influence of growth hormone monotherapy and growth hormone in combination with oxandrolone or testosterone on thyroxid hormone parameters and thyroxine binding globulin in patients with Ullrich-Turner syndrome.

    abstract:UNLABELLED:Administration of human growth hormone (GH) has yielded conflicting results concerning its role on thyroid function in patients with Ullrich-Turner syndrome. Therefore, we investigated the course of thyroid hormone parameters and thyroxin binding globulin in relation to GH therapy, IGF-I and additional oxand...

    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/s004310050563

    authors: Schmitt K,Häusler G,Blümel P,Plöchl E,Waldhör T,Frisch H

    更新日期:1997-02-01 00:00:00

  • Evaluation of the current use of imaging modalities and pathogen detection in children with acute osteomyelitis and septic arthritis.

    abstract::Diagnostic tools for the management of acute osteomyelitis (OM) and septic arthritis (SA) have improved over the last decade. To investigate the influence and availability of magnetic resonance imaging (MRI) and nucleic acid testing (NAT), a retrospective cohort study was done. Patients admitted with acute OM or SA be...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-018-3157-3

    authors: Manz N,Krieg AH,Heininger U,Ritz N

    更新日期:2018-07-01 00:00:00

  • Odd-numbered long-chain fatty acids in propionic acidaemia.

    abstract:UNLABELLED:In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five pa...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310050010

    authors: Sperl W,Murr C,Skladal D,Sass JO,Suormala T,Baumgartner R,Wendel U

    更新日期:2000-01-01 00:00:00

  • Prospective cohort studies using hydrolysed formulas for allergy prevention in atopy-prone newborns: a systematic review.

    abstract:UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/pl00008442

    authors: Schoetzau A,Gehring U,Wichmann HE

    更新日期:2001-06-01 00:00:00

  • A case of perineal hypospadias with paracentric inversion of chromosome 14.

    abstract::Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14. ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00441748

    authors: Leung AK,Hoo JJ

    更新日期:1986-02-01 00:00:00

  • A systematic review of clinical pharmacist interventions in paediatric hospital patients.

    abstract::Clinical pharmacists provide beneficial services to adult patients, though their benefits for paediatric hospital patients are less defined. Five databases were searched using the MeSH terms 'clinical pharmacist', 'paediatric/paediatric', 'hospital', and 'intervention' for studies with paediatric patients conducted in...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-018-3187-x

    authors: Drovandi A,Robertson K,Tucker M,Robinson N,Perks S,Kairuz T

    更新日期:2018-08-01 00:00:00

  • Oesophageal pH monitoring and reflux oesophagitis in irritable infants.

    abstract:UNLABELLED:Acid reflux and/or oesophagitis may be responsible for inconsolable crying in infants. We evaluated prospectively the presence of acid reflux disease, oesophagitis and the accuracy of pH monitoring in the prediction of oesophagitis in a population of irritable infants. A 24-h oesophageal pH monitoring with a...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-004-1403-3

    authors: Vandenplas Y,Badriul H,Verghote M,Hauser B,Kaufman L

    更新日期:2004-06-01 00:00:00

  • Maculopapular rash in the convalescent phase of Kawasaki disease: case series and literature review.

    abstract:UNLABELLED:Intravenous immunoglobulin (IVIG) is currently the standard treatment for Kawasaki disease (KD). Although IVIG therapy is generally well tolerated, several minor adverse reactions have been reported. We report a patient with KD treated with IVIG, who developed a cutaneous reaction in the convalescent phase (...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s00431-012-1898-y

    authors: Takeuchi M,Oda Y,Suzuki I

    更新日期:2013-03-01 00:00:00

  • Management of neurogenic bladder dysfunction secondary to myelomeningocele.

    abstract::We investigated 55 children, aged from 24 months to 14 years with neurogenic bladder dysfunction secondary to myelomeningocele, by serial urodynamic. They were serially evaluation over 2-5 years. Management consisted of drug therapy together with intermittent vesical catheterization in different combinations on the ba...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01959484

    authors: Castro-Gago M,Novo I,Cimadevila A,Peña J,Rodriguez-Núñez A,Marqués'-Queimadelos A

    更新日期:1990-11-01 00:00:00

  • Influences of neonatal serum IgE concentration, family history and diet on the incidence of cow's milk allergy.

    abstract::Serum IgE concentration was measured on the 5th day of life in 943 infants. All infants were included in a 3 month follow-up study. The frequency of cow's milk allergy was studied according to either family history, IgE level, or both. Feeding (mother's milk or formula feeding) was taken into account. Manifestations s...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02429049

    authors: Vandenplas Y,Sacre L

    更新日期:1986-12-01 00:00:00