Self-limited neonatal familial hyperparathyroidism associated with hypercalciuria and renal tubular acidosis in three siblings.

Abstract:

:Three siblings with neonatal familial hyperparathyroidism diagnosed at age 4 months, 2 months, and 5 days, respectively, were treated. Hypercalciuria, nephrocalcinosis, and renal tubular acidosis were present in each child. In all three, there were higher responses of serum parathyroid hormone to serum calcium and higher elevation of serum calcium with oral calcium loading. The metabolism of vitamin D and calcitonin seemed to be intact. Hypercalcemia associated with the abnormal response of parathyroid hormone secretion disappeared when the children passed the age of approximately 2 years, although renal tubular acidosis and nephrocalcinosis remained. An autosomal recessive inheritance seems likely.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Nishiyama S,Tomoeda S,Inoue F,Ohta T,Matsuda I

subject

Has Abstract

pub_date

1990-09-01 00:00:00

pages

421-7

issue

3

eissn

0031-4005

issn

1098-4275

journal_volume

86

pub_type

杂志文章
  • STEPP IN: Working Together to Keep Infants Warm in the Perioperative Period.

    abstract:OBJECTIVES:Reduce postoperative hypothermia by up to 50% over a 12-month period in children's hospital NICUs and identify specific clinical practices that impact success. METHODS:Literature review, expert opinion, and benchmarking were used to develop clinical practice recommendations for maintaining perioperative eut...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究,评审

    doi:10.1542/peds.2019-1121

    authors: Brozanski BS,Piazza AJ,Chuo J,Natarajan G,Grover TR,Smith JR,Mingrone T,McClead RE,Rakesh R,Rintoul N,Guidash J,Bellflower B,Holston M,Richardson T,Pallotto EK

    更新日期:2020-04-01 00:00:00

  • Improved access and quality of care after enrollment in the New York State Children's Health Insurance Program (SCHIP).

    abstract:BACKGROUND:Although many studies have noted that uninsured children have poorer access and quality of health care than do insured children, few studies have been able to demonstrate the direct benefits of providing health insurance to previously uninsured children. The State Children's Health Insurance Program (SCHIP),...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.113.5.e395

    authors: Szilagyi PG,Dick AW,Klein JD,Shone LP,Zwanziger J,McInerny T

    更新日期:2004-05-01 00:00:00

  • Outcomes of extremely premature infants related to their peak serum bilirubin concentrations and exposure to phototherapy.

    abstract:OBJECTIVES:To analyze, in extremely low birth weight infants, associations between peak bilirubin concentration and evidence of brain damage, and between peak bilirubin concentration and blindness attributable to retinopathy of prematurity. METHODS:Retrospective study of 128 infants of

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.102.6.1426

    authors: Yeo KL,Perlman M,Hao Y,Mullaney P

    更新日期:1998-12-01 00:00:00

  • Improving adherence to otitis media guidelines with clinical decision support and physician feedback.

    abstract:OBJECTIVE:To assess the effects of electronic health record-based clinical decision support (CDS) and physician performance feedback on adherence to guidelines for acute otitis media (AOM) and otitis media with effusion (OME). METHODS:We conducted a factorial-design cluster randomized trial with primary care practices...

    journal_title:Pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1542/peds.2012-1988

    authors: Forrest CB,Fiks AG,Bailey LC,Localio R,Grundmeier RW,Richards T,Karavite DJ,Elden L,Alessandrini EA

    更新日期:2013-04-01 00:00:00

  • Stakeholder Perspectives on Research and Practice in Autism and Transition.

    abstract:OBJECTIVES:Individuals with autism spectrum disorder (ASD) are reported to experience significant challenges during the transition to adulthood. Although recent evidence indicates that individuals with ASD experience poor outcomes in adulthood, little is understood about the contributing factors. In this qualitative st...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2016-4300F

    authors: Kuo AA,Crapnell T,Lau L,Anderson KA,Shattuck P

    更新日期:2018-04-01 00:00:00

  • Safety and Immunogenicity of Sequential Rotavirus Vaccine Schedules.

    abstract:BACKGROUND AND OBJECTIVES:Although both licensed rotavirus vaccines are safe and effective, it is often not possible to complete the schedule by using the same vaccine formulation. The goal of this study was to investigate the noninferiority of the immune responses to the 2 licensed rotavirus vaccines when administered...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.2015-2603

    authors: Libster R,McNeal M,Walter EB,Shane AL,Winokur P,Cress G,Berry AA,Kotloff KL,Sarpong K,Turley CB,Harrison CJ,Pahud BA,Marbin J,Dunn J,El-Khorazaty J,Barrett J,Edwards KM,VTEU Rotavirus Vaccine Study Work Group.

    更新日期:2016-02-01 00:00:00

  • Self-reported quality of life of young children with conditions from early infancy: a systematic review.

    abstract:CONTEXT:There is little consistency in the use of instruments for measuring self-reported quality of life (QoL) in young children. OBJECTIVE:To systematically review studies of self-reported QoL in children aged <12 years with congenital health conditions, and to examine the agreement between self- and proxy-reports. ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2014-0352

    authors: Jardine J,Glinianaia SV,McConachie H,Embleton ND,Rankin J

    更新日期:2014-10-01 00:00:00

  • Early puberty and adolescent pregnancy: the influence of alcohol use.

    abstract:OBJECTIVE:Early pubertal timing predicts deleterious outcomes for young girls, including substance use, risky sexual behavior, and pregnancy. In turn, adolescent pregnancy predicts long-term negative consequences such as reduced educational attainment and income-earning potential. Despite evidence of the direct links b...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-0542

    authors: Deardorff J,Gonzales NA,Christopher FS,Roosa MW,Millsap RE

    更新日期:2005-12-01 00:00:00

  • Diagnostic performance of BMI percentiles to identify adolescents with metabolic syndrome.

    abstract:OBJECTIVES:To compare the diagnostic performance of the Centers for Disease Control and Prevention (CDC) and FITNESSGRAM (FGram) BMI standards for quantifying metabolic risk in youth. METHODS:Adolescents in the NHANES (n = 3385) were measured for anthropometric variables and metabolic risk factors. BMI percentiles wer...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-1308

    authors: Laurson KR,Welk GJ,Eisenmann JC

    更新日期:2014-02-01 00:00:00

  • Children's access to primary care: differences by race, income, and insurance status.

    abstract:OBJECTIVE:Congressional initiatives to reduce spending under major public programs designed to improve access to health care have brought renewed attention to the health care needs of traditionally disadvantaged populations. The objective of this study was to assess access to and use of primary care services for poor, ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Newacheck PW,Hughes DC,Stoddard JJ

    更新日期:1996-01-01 00:00:00

  • Protection Versus Progress: The Challenge of Research on Cannabis Use During Pregnancy.

    abstract::A central tension in pediatric research ethics arises from our desire to protect children from harm while also allowing progress toward discoveries that could improve child health. A prime example of this tension is research on a controversial yet increasingly common practice: the use of cannabis by women to treat nau...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2020-0818R

    authors: MacDuffie KE,Kleinhans NM,Stout K,Wilfond BS

    更新日期:2020-08-01 00:00:00

  • A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

    abstract:OBJECTIVE:The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 year...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.112.6.1361

    authors: Cheidde L,Vieira TC,Lima PR,Saad ST,Heilberg IP

    更新日期:2003-12-01 00:00:00

  • Cardiorespiratory patterns occurring in infants during and after recovery from respiratory tract infection.

    abstract::During and after respiratory tract infections in 29 hospitalized infants, 12 cardiorespiratory measurements were performed on 24-hour recordings of ECG and respiratory activity. These measurements were compared with similar data obtained from 110 age-matched control infants without infection. Respiratory and heart rat...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Southall DP,Stebbens VA,Alexander JR,Cardle CM,Cogswell JJ

    更新日期:1986-07-01 00:00:00

  • Association of center volume with mortality and complications in pediatric heart surgery.

    abstract:OBJECTIVE:Previous analyses have suggested center volume is associated with outcome in children undergoing heart surgery. However, data are limited regarding potential mediating factors, including the relationship of center volume with postoperative complications and mortality in those who suffer a complication. We exa...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2011-1188

    authors: Pasquali SK,Li JS,Burstein DS,Sheng S,O'Brien SM,Jacobs ML,Jaquiss RD,Peterson ED,Gaynor JW,Jacobs JP

    更新日期:2012-02-01 00:00:00

  • Diagnosis and treatment of acute otitis media: an assessment.

    abstract:OBJECTIVE:To assess compliance with the Centers for Disease Control and Prevention (CDC) evidence-based guidelines for the judicious use of antimicrobials in children with acute otitis media (AOM). METHODS:Compliance with CDC's recommended diagnostic criteria and antimicrobial treatments for management of AOM was asse...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.112.1.143

    authors: Garbutt J,Jeffe DB,Shackelford P

    更新日期:2003-07-01 00:00:00

  • Long-term pulmonary sequelae in children who were treated with extracorporeal membrane oxygenation for neonatal respiratory failure.

    abstract:OBJECTIVE:Extracorporeal membrane oxygenation (ECMO) is a life-saving therapy for neonates with intractable respiratory failure, but the long-term pulmonary outcome is unknown. Our aim was to investigate the long-term pulmonary sequelae of these children. STUDY DESIGN:We studied 50 children at 11.1 +/- 1.1 years (mean...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2003-1080-L

    authors: Hamutcu R,Nield TA,Garg M,Keens TG,Platzker AC

    更新日期:2004-11-01 00:00:00

  • Relationships Between Material Hardship, Resilience, and Health Care Use.

    abstract:BACKGROUND:Material hardship has been associated with adverse health care use patterns for children with special health care needs (CSHCN). In this study, we assessed if resilience factors were associated with lower emergency department (ED) visits and unmet health care needs and if they buffered associations between m...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2019-1975

    authors: Fuller AE,Garg A,Brown NM,Tripodis Y,Oyeku SO,Gross RS

    更新日期:2020-02-01 00:00:00

  • Adolescent participation in tobacco promotions: the role of psychosocial factors.

    abstract:OBJECTIVES:To identify psychosocial factors that place adolescents at risk for participation in tobacco promotions, and to further investigate the hypothesis that psychosocial vulnerabilities have an indirect effect on smoking initiation among youth by way of involvement with tobacco promotions. METHODS:Data were from...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.111.2.402

    authors: Albers AB,Biener L

    更新日期:2003-02-01 00:00:00

  • Children plus all nonautomobile motorized vehicles (not just all-terrain vehicles) equals injuries.

    abstract:OBJECTIVES:The goals were to describe the epidemiological features of pediatric nonautomobile motorized vehicle-related injuries sustained between 1990 and 2003 and to compare all-terrain vehicle-related injuries with other types of nonautomobile motorized vehicle-related injuries. METHODS:An analysis of nationally re...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-3612

    authors: Collins CL,Smith GA,Comstock RD

    更新日期:2007-07-01 00:00:00

  • Pathophysiology of acetaminophen overdosage toxicity: implications for management.

    abstract::Acute acetaminophen intoxication was studied in the dog to characterize pathogenesis and in the mouse as a model for antidotal research. In the dog, overt toxicity was manifested principally by cyanosis, facial and paw edema, gastrointestinal disturbance, and coma. Typical laboratory findings were methemoglobinemia, h...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Piperno E,Mosher AH,Berssenbruegge DA,Winkler JD,Smith RB

    更新日期:1978-11-01 00:00:00

  • Drugs for pediatric emergencies. Committee on Drugs, Committee on Drugs, 1996 to 1997, Liaison Representatives, and AAP Section Liaisons.

    abstract::This statement provides current recommendations about the use of emergency drugs for acute pediatric problems that require pharmacologic intervention. At each clinical setting, physicians and other providers should evaluate drug, equipment, and training needs. The information provided here is not all-inclusive and is ...

    journal_title:Pediatrics

    pub_type: 指南,杂志文章,实务指引

    doi:

    authors:

    更新日期:1998-01-01 00:00:00

  • A Healthy Toddler With Fever and Lethargy.

    abstract::A 21-month-old previously healthy girl presented to the emergency department initially with fever, rhinorrhea, and poor oral intake. She was subsequently discharged from the hospital on amoxicillin for treatment of acute otitis media but presented hours later on the same day with continued poor oral intake, decreased ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2018-0412

    authors: Suri NA,Meehan CW,Melwani A

    更新日期:2019-05-01 00:00:00

  • The prevalence, severity, and distribution of childhood food allergy in the United States.

    abstract:OBJECTIVE:The goal of this study was to better estimate the prevalence and severity of childhood food allergy in the United States. METHODS:A randomized, cross-sectional survey was administered electronically to a representative sample of US households with children from June 2009 to February 2010. Eligible participan...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2011-0204

    authors: Gupta RS,Springston EE,Warrier MR,Smith B,Kumar R,Pongracic J,Holl JL

    更新日期:2011-07-01 00:00:00

  • Trends in Access to Health Care Services for US Children: 2000-2014.

    abstract:BACKGROUND AND OBJECTIVE:Recent years have witnessed substantial gains in health insurance coverage for children, but few studies have examined trends across a diverse set of access indicators. We examine US children's access to health services and whether trends vary by race/ethnicity and income. METHODS:Analysis of ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2016-2176

    authors: Larson K,Cull WL,Racine AD,Olson LM

    更新日期:2016-12-01 00:00:00

  • Eleven plasma proteins as indicators of protein nutritional status in very low birth weight infants.

    abstract::Concentrations of 11 plasma proteins were measured in 28 healthy, growing, very low birth weight, appropriate-for-gestational-age infants fed varying levels of human milk protein intake (range 1.7 to 3.9 g/kg per day). Significant positive correlations were found between mean protein intake and concentrations of 7 of ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Polberger SK,Fex GA,Axelsson IE,Räihä NC

    更新日期:1990-12-01 00:00:00

  • Use of trained mothers to teach interviewing skills to first-year medical students: a follow-up study.

    abstract::This report describes an attempt to evaluate the effectiveness of "trained mother" interviews early in the medical school curriculum. As an adjunct to a first-year course that teaches interviewing techniques, half of the students were exposed to an interview with one of three trained mothers early in the course. This ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Stillman PL,Sabers DL,Redfield DL

    更新日期:1977-08-01 00:00:00

  • Maternal, neonatal, and placental features associated with diffuse chorioamniotic hemosiderosis, with special reference to neonatal morbidity and mortality.

    abstract:OBJECTIVE:Our purpose was to examine the significance of diffuse chorioamniotic hemosiderosis (DCH) on neonatal morbidity and mortality. METHODS:Using data from a retrospective case-control study, we analyzed 46 singleton placentas with DCH from infants who were delivered and/or admitted to the neonatal intensive care...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.113.4.800

    authors: Ohyama M,Itani Y,Yamanaka M,Goto A,Kato K,Ijiri R,Tanaka Y

    更新日期:2004-04-01 00:00:00

  • Relative rates of fetal hemoglobin and adult hemoglobin synthesis in cord blood of infants of insulin-dependent diabetic mothers.

    abstract::Erythrocytosis, extramedullary erythropoiesis, and increased levels of plasma erythropoietin have been observed in newborn infants of diabetic mothers. Because there is evidence that there is a relationship between increased fetal hemoglobin production and acute erythropoietic expansion, it was considered important to...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bard H,Prosmanne J

    更新日期:1985-06-01 00:00:00

  • Premedication for nonemergent neonatal intubations: a randomized, controlled trial comparing atropine and fentanyl to atropine, fentanyl, and mivacurium.

    abstract:OBJECTIVE:The purpose of this work was to investigate whether using a muscle relaxant would improve intubation conditions in infants, thereby decreasing the incidence and duration of hypoxia and time and number of attempts needed to successfully complete the intubation procedure. PATIENTS/METHODS:This was a prospectiv...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.2006-0590

    authors: Roberts KD,Leone TA,Edwards WH,Rich WD,Finer NN

    更新日期:2006-10-01 00:00:00

  • Tocopherol efficacy and safety for preventing retinopathy of prematurity: a randomized, controlled, double-masked trial.

    abstract::To test the efficacy and safety of vitamin E in preventing retinopathy of prematurity, 287 infants with birth weights of less than 1.5 kg or gestational ages of less than 33 weeks were enrolled within 24 hours of birth in a randomized, double-masked trial of IV, followed by oral, placebo v tocopherol (adjusted to plas...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Phelps DL,Rosenbaum AL,Isenberg SJ,Leake RD,Dorey FJ

    更新日期:1987-04-01 00:00:00