Abstract:
:Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubule. GH deficiency was demonstrated by specific diagnostic tests in both children. Hypertonic saline infusion tests showed a partial vasopressin deficiency in the girl and delayed secretion of this hormone in the boy. Magnetic resonance imaging revealed an empty sella in both cases. Up to now, hypomagnesemia and hypocalciuria have been considered obligatory criteria for the diagnosis of Gitelman disease; however, our two patients had hypomagnesemia and hypocalciuria in less than half the determinations. GH replacement treatment was associated with a good clinical response in both children. It appears that these cases represent a new phenotype, not previously described in Gitelman disease, and that the entity may be considered a new complex hereditary renal tubular-pituitary syndrome.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Bettinelli A,Rusconi R,Ciarmatori S,Righini V,Zammarchi E,Donati MA,Isimbaldi C,Bevilacqua M,Cesareo L,Tedeschi S,Garavaglia R,Casari Gdoi
10.1203/00006450-199908000-00017subject
Has Abstractpub_date
1999-08-01 00:00:00pages
232-8issue
2eissn
0031-3998issn
1530-0447journal_volume
46pub_type
杂志文章abstract::Studies were conducted to assess the efficacy and safety of a synthetic peptide-containing surfactant in the treatment of respiratory distress syndrome (RDS) in preterm (approximately 80% of normal gestation) infant rhesus monkeys. Surfactant was prepared consisting of the phospholipids dipalmitoylphosphatidyl choline...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199604000-00025
更新日期:1996-04-01 00:00:00
abstract::Prenatal maternal therapy with glucocorticoid reduces the incidence of respiratory distress syndrome (RDS) in premature infants. To investigate the effects of this treatment on the fetal endocrine system, we determined serum concentrations of betamethasone, cortisol, dehydroepiandrosterone sulfate, growth hormone, and...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198002000-00011
更新日期:1980-02-01 00:00:00
abstract::Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199101000-00012
更新日期:1991-01-01 00:00:00
abstract::There has been recent interest in the use of the phosphodiesterase-5 inhibitor sildenafil for treating pulmonary hypertension. We examined the interaction between inhaled nitric oxide (iNO) and i.v. sildenafil in 12 piglets with acute pulmonary hypertension and lung injury secondary to meconium aspiration. Six animals...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000112033.81970.C2
更新日期:2004-03-01 00:00:00
abstract::The gastrointestinal (GI) barrier function is immature in the preterm neonate and might thus facilitate translocation of enteric bacteria and gut-derived septicemia. Circumstantial evidence suggests that bacterial uptake from the intestine may be further enhanced by an alteration of the host nutritional status. To tes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199603000-00007
更新日期:1996-03-01 00:00:00
abstract::Exercise-induced arterial hypoxemia (EIAH) is a recognized phenomenon in highly trained adults. Like adult athletes, prepubescent trained children may develop high-level metabolic demand but with a limited lung capacity in comparison with adults. The purpose of this investigation was to search for evidence of EIAH in ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000114481.58902.FB
更新日期:2004-04-01 00:00:00
abstract::We studied the mechanisms by which C16:0 lysophosphatidylcholine (LPC) and albumin inhibit the surface activity of calf lung surfactant extract (CLSE) by using a pulsating bubble apparatus with a specialized hypophase exchange system, plus adsorption and Wilhelmy balance measurements. In the absence of inhibitors, CLS...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199907000-00015
更新日期:1999-07-01 00:00:00
abstract::Various assay methods for detection of thyroid hormones in human milk were evaluated in recovery and dilution experiments after which the concentrations of thyroxine (T4) and 3,5,3'-triiodothyronine (T3) were measured and compared with those in serum. The effect of breast feeding on pituitary thyroid function of norma...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198306000-00008
更新日期:1983-06-01 00:00:00
abstract::Topical emollient therapy may reduce the incidence of serious infections and mortality of preterm infants in developing countries. We tested whether emollient therapy reduced the burden of pathogens on skin and/or prevented bacterial translocation. Neonates <33 wk gestational age were randomized to treatment with sunf...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/pdr.0b013e3180459f75
更新日期:2007-05-01 00:00:00
abstract::To determine the importance of peroxisomes and mitochondria in hydroxyeicosatetraenoic acid (HETE) oxidation in vivo, urinary excretion of 12- and 15-HETE was measured in eight patients with a peroxisome deficiency disorder (Zellweger syndrome) showing normal mitochondrial beta-oxidation capacity, in three patients wi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199601000-00022
更新日期:1996-01-01 00:00:00
abstract::This work examines the dynamic surface pressure-area behavior of films of unconjugated bilirubin spread from chloroform solution at 22 degrees C on 0.15 M NaCl and buffered phosphate subphases. Film behavior is examined at pH 5.5, 7.4 and 8.0. The interactions of bilirubin in mixed films with dipalmitoyl phosphatidylc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198202000-00011
更新日期:1982-02-01 00:00:00
abstract::Hydrocephalus may result in loss of tissue associated with neuronal degeneration, axonal damage, and reactive gliosis. The soluble form of the anti-apoptotic regulator Fas (sFas) and the pro-apoptotic factors soluble FasL (sFasL) and activated caspase 3 were studied in the cerebrospinal fluid of infants with hydroceph...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000084114.83724.65
更新日期:2003-11-01 00:00:00
abstract::Alterations in thermoregulatory mechanisms related to sleep state may play an important role in the problems of homeostasis experienced by the premature infant. In the adult, homeothermic regulation of body temperature may be suspended during REM. We measured oxygen consumption (VO2) in six premature infants 33-35 wk ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198207000-00002
更新日期:1982-07-01 00:00:00
abstract:BACKGROUND:Infantile hemangioma (IH) is the most frequent vascular tumor of early childhood. Recently, propranolol, a nonselective β1- and β2-adrenoceptor inhibitor, was introduced into the therapy of severe proliferating IH with excellent results. However, the underlying mechanism of action of propranolol is still unc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.16
更新日期:2013-04-01 00:00:00
abstract::This study was made to determine the life span of adult red cells transfused to early preterm infants. Nineteen very preterm infants (birth weight, 878.7 +/- 221 g; gestational age, 26.8 +/- 1.5 wk at birth) were sampled weekly after their last blood transfusion to determine the level (%) of fetal Hb in their circulat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199707000-00002
更新日期:1997-07-01 00:00:00
abstract::Response characteristics of a transcutaneous PO2 electrode to step changes in PaO2 were determined. In vitro lag time and 95% response time of a transcutaneous PO2 monitor were compared to in vivo response. Release of arterial occlusion was used to produce rapid local PaO2 changes in human infants and adults. In vitro...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198102000-00012
更新日期:1981-02-01 00:00:00
abstract::The fetal respiratory and electrocortical effects of thyrotropin-releasing hormone (TRH) administered into the lateral cerebral ventricles, have been investigated in chronically catheterized unanesthetized fetal sheep at 125-140 days of gestation. Stimulatory effects on fetal breathing movements were seen at doses as ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198801000-00016
更新日期:1988-01-01 00:00:00
abstract::Fetal dermal wounds heal scarlessly and with a minimal inflammatory response. When a robust inflammatory response is induced at the site of fetal dermal wounds by the application of cytokines, healing results in fibrosis. To test the hypothesis that the reduced inflammatory response in fetal wounds is due to impaired ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000184326.01884.bc
更新日期:2005-12-01 00:00:00
abstract::The mechanisms of how glutamine benefits critically ill patients have not been established. The purpose of this study was to determine the effects of dietary and endogenously produced glutamine on small intestinal morphology using light and transmission electron microscopy in artificially reared rat pups. It was hypot...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200209000-00021
更新日期:2002-09-01 00:00:00
abstract::A technique is described in which paper chromatoelectrophoresis is used to measure the bilirubin binding capacity of albumin in serum. It is equivalent to the Sephadex G-25 method and its results are highly reproducible. From a single pool of serum, multiple determinations indicated the mean bilirubin binding capacity...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197707000-00006
更新日期:1977-07-01 00:00:00
abstract::Several markers of growth and biochemical development in the rat were studied after administration of prostacyclin (PGI2) and 16, 16-dimethyl prostaglandin E2 (16, 16DM PGE2). Intermittent administration of PGI2 for 3 days to 10- and 19-day-old animals, with subsequent sacrifice at 14 and 23 days, resulted in signific...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198307000-00004
更新日期:1983-07-01 00:00:00
abstract::The risk of pulmonary hemorrhage is increased in extremely low birth weight infants treated with surfactant. The pathogenesis of this increased risk is far from clear. We tested whether exposure of cell membranes to surfactant may lead to increased membrane permeability, hypothesizing that this process may contribute ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract::To determine the role of pili in mediating adherence of type b and nontypeable Haemophilus influenzae to several respiratory cell types, piliated bacteria, nonpiliated phase variants, and nonpiliated mutants possessing insertionally inactivated pilin genes were tested. Both piliated and nonpiliated strains adhered to ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199602000-00025
更新日期:1996-02-01 00:00:00
abstract::Primary immunodeficiencies (PIDs) have traditionally been defined according to their immunologic phenotype. Far from being concluded, the search for human genes that, when mutated, cause PID is actively being pursued. During the last year, four novel genetic defects that cause severe combined immunodeficiency and seve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31819dbe1e
更新日期:2009-05-01 00:00:00
abstract:BACKGROUND:The epithelial-mesenchymal transition (EMT) has been implicated as a key mechanism in the pathogenesis of liver fibrosis. The miR-200 family has been shown to inhibit EMT. METHODS:Liver fibrosis levels were assessed with Masson's trichrome staining of liver samples obtained from biliary atresia (BA) patient...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.181
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Human milk oligosaccharides (HMOs) shape the intestinal microbiota in term infants. In premature infants, alterations in the intestinal microbiota (dysbiosis) are associated with risk of necrotizing enterocolitis (NEC) and sepsis, and the influence of HMOs on the microbiota is unclear. METHODS:Milk, urine, ...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1038/pr.2015.162
更新日期:2015-12-01 00:00:00
abstract:BACKGROUND:Caffeine is a nonspecific adenosine receptor antagonist used in premature neonates to treat apnea of prematurity. While its use may reduce the incidence of bronchopulmonary dysplasia (BPD), the precise mechanisms remain unknown. Evidence of increased adenosine levels are noted in chronic lung diseases includ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.233
更新日期:2014-03-01 00:00:00
abstract::Newborn Sprague-Dawley rat pups were found to have reduced net tubular reclamation of the beta-amino acid taurine in vivo. The reabsorption of this compound increased between the 2nd and 4th week of life and the excreted taurine fell despite a rise in glomerular filtration rate indicative of increased transport with m...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197907000-00012
更新日期:1979-07-01 00:00:00
abstract::To localize fetal rabbit lung beta-adrenoreceptors before and after glucocorticoid treatment, light microscopic autoradiography was performed with the reversible radiolabeled beta-adrenergic antagonist, [3H]dihydroalprenolol, on day 26 of gestation. Autoradiograms of adult lung and fetal myocardium were also prepared....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198411000-00028
更新日期:1984-11-01 00:00:00
abstract::Lung development requires extracellular matrix remodeling. This involves matrix metalloproteinases (MMPs) and their endogenous inhibitors [tissue inhibitors of metalloproteinases (TIMPs)]. Because these have been generally studied only in whole lung, we focused specifically on mesenchymal and epithelial cells freshly ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180686cc5
更新日期:2007-07-01 00:00:00