Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.

Abstract:

OBJECTIVE:Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (PKU). The purpose of this study was to assess genotypes and data on the long-term effects of BH4/sapropterin on metabolic control and patient-related outcomes in 6 large European countries. METHODS:A questionnaire was developed to assess phenotype, genotype, blood phenylalanine (Phe) levels, Phe tolerance, quality of life, mood changes, and adherence to diet in PKU patients from 16 medical centers. RESULTS:One hundred forty-seven patients, of whom 41.9% had mild hyperphenylalaninemia, 50.7% mild PKU, and 7.4% classic PKU, were followed up over ≤12 years. A total of 85 different genotypes were reported. With the exception of two splice variants, all of the most common mutations were reported to be associated with substantial residual Phe hydroxylase activity. Median Phe tolerance increased 3.9 times with BH4/sapropterin therapy, compared with dietary treatment, and median Phe blood concentrations were within the therapeutic range in all patients. Compared with diet alone, improvement in quality of life was reported in 49.6% of patients, improvement in adherence to diet was reported in 47% of patients, and improvement in adherence to treatment was reported in 63.3% of patients. No severe adverse events were reported. CONCLUSIONS:Our data document a long-term beneficial effect of orally administered BH4/sapropterin in responsive PKU patients by improving the metabolic control, increasing daily tolerance for dietary Phe intake, and for some, by improving dietary adherence and quality of life. Patient genotypes help in predicting BH4 responsiveness.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Keil S,Anjema K,van Spronsen FJ,Lambruschini N,Burlina A,Bélanger-Quintana A,Couce ML,Feillet F,Cerone R,Lotz-Havla AS,Muntau AC,Bosch AM,Meli CA,Billette de Villemeur T,Kern I,Riva E,Giovannini M,Damaj L,Leuzzi V,B

doi

10.1542/peds.2012-3291

subject

Has Abstract

pub_date

2013-06-01 00:00:00

pages

e1881-8

issue

6

eissn

0031-4005

issn

1098-4275

pii

peds.2012-3291

journal_volume

131

pub_type

杂志文章,多中心研究
  • Thyroid "vise" in an infant with neonatal Graves' disease.

    abstract::On the rare occasion when neonatal goiter is the cause of airway compromise, it typically presents with a palpable neck mass. In the setting of maternal Graves' disease (GD), fetal and neonatal goiters are most commonly caused by maternal treatment with antithyroid medication, and the goiter resolves within days of in...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2012-3000

    authors: Regelmann MO,Sullivan CK,Rapaport R

    更新日期:2013-10-01 00:00:00

  • "Eczema coxsackium" and unusual cutaneous findings in an enterovirus outbreak.

    abstract:OBJECTIVE:To characterize the atypical cutaneous presentations in the coxsackievirus A6 (CVA6)-associated North American enterovirus outbreak of 2011-2012. METHODS:We performed a retrospective case series of pediatric patients who presented with atypical cases of hand, foot, and mouth disease (HFMD) from July 2011 to ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2012-3175

    authors: Mathes EF,Oza V,Frieden IJ,Cordoro KM,Yagi S,Howard R,Kristal L,Ginocchio CC,Schaffer J,Maguiness S,Bayliss S,Lara-Corrales I,Garcia-Romero MT,Kelly D,Salas M,Oberste MS,Nix WA,Glaser C,Antaya R

    更新日期:2013-07-01 00:00:00

  • Incidence and outcomes of symptomatic neonatal arterial ischemic stroke.

    abstract:BACKGROUND AND OBJECTIVES:Neonatal arterial ischemic stroke (NAIS) is associated with considerable lifetime burdens such as cerebral palsy, epilepsy, and cognitive impairment. Prospective epidemiologic studies that include outcome assessments are scarce. This study aimed to provide information on the epidemiology, clin...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2014-1520

    authors: Grunt S,Mazenauer L,Buerki SE,Boltshauser E,Mori AC,Datta AN,Fluss J,Mercati D,Keller E,Maier O,Poloni C,Ramelli GP,Schmitt-Mechelke T,Steinlin M

    更新日期:2015-05-01 00:00:00

  • Is more neonatal intensive care always better? Insights from a cross-national comparison of reproductive care.

    abstract:BACKGROUND:Despite high per capita health care expenditure, the United States has crude infant survival rates that are lower than similarly developed nations. Although differences in vital recording and socioeconomic risk have been studied, a systematic, cross-national comparison of perinatal health care systems is lac...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.109.6.1036

    authors: Thompson LA,Goodman DC,Little GA

    更新日期:2002-06-01 00:00:00

  • Minoxidil for control of acute blood pressure elevation in chronically hypertensive children.

    abstract::Twenty-three episodes of acute elevation of BP related to renal disease in 13 chronically hypertensive children 2 to 18 years of age were treated with a single oral dose of minoxidil. All except one patient were receiving a diuretic and all but one a beta-blocking agent at the time of minoxidil treatment. The goal of ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Strife CF,Quinlan M,Waldo FB,Fryer CJ,Jackson EC,Welch TR,McEnery PT,West CD

    更新日期:1986-11-01 00:00:00

  • Successful treatment of juvenile chronic granulocytic leukemia with marrow transplantation.

    abstract::A 46-month-old boy with juvenile chronic granulocytic leukemia was treated intensively with hydroxyurea, dimethyl myleran, cyclophosphamide, and total body irradiation. He then received a marrow transplant from an HL-A matched brother. Thirty-two months after the transplantation, he is hematologically normal and remai...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Sanders JE,Buckner CD,Stewart P,Thomas ED

    更新日期:1979-01-01 00:00:00

  • Does bed sharing affect the risk of SIDS? American Academy of Pediatrics. Task Force on Infant Positioning and SIDS.

    abstract::The American Academy of Pediatrics endorses and accepts as its policy the position on bed sharing as articulated below by a panel of experts convened by the National Institute of Child Health and Human Development (NICHD). The Panel attended a conference sponsored by the NICHD entitled "Infant Sleep Environment and SI...

    journal_title:Pediatrics

    pub_type: 指南,杂志文章

    doi:

    authors:

    更新日期:1997-08-01 00:00:00

  • First-week protein and energy intakes are associated with 18-month developmental outcomes in extremely low birth weight infants.

    abstract:OBJECTIVE:We sought to evaluate the association between early protein and energy intake and neurodevelopment and growth of extremely low birth weight (<1000 g) infants. STUDY DESIGN:Daily protein and energy intakes were collected by chart review for the first 4 weeks of life on 148 extremely low birth weight survivors...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-0211

    authors: Stephens BE,Walden RV,Gargus RA,Tucker R,McKinley L,Mance M,Nye J,Vohr BR

    更新日期:2009-05-01 00:00:00

  • Clinical-echocardiographic correlations in acute rheumatic fever.

    abstract::Thirty-three children with acute rheumatic fever were studied using echocardiography to characterize heart involvement in this disease. Among 26 subjects with a first episode of acute rheumatic fever, 18 had a clinical diagnosis of carditis and six had heart failure. Heart failure usually resulted from valvular incomp...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Vardi P,Markiewicz W,Weiss Y,Levi J,Benderly A

    更新日期:1983-05-01 00:00:00

  • Pediatric lead exposure from imported Indian spices and cultural powders.

    abstract:BACKGROUND:Significant lead poisoning has been associated with imported nonpaint products. OBJECTIVES:To describe cases of pediatric lead intoxication from imported Indian spices and cultural powders, determine lead concentrations in these products, and predict effects of ingestion on pediatric blood lead levels (BLLs...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-1396

    authors: Lin CG,Schaider LA,Brabander DJ,Woolf AD

    更新日期:2010-04-01 00:00:00

  • The Autism Speaks Autism Treatment Network Registry Data: Opportunities for Investigators.

    abstract:OBJECTIVE:Patient registries can effectively collect data over a long period of time to provide a better understanding of the typical presentation of specific conditions. The autism spectrum disorders (ASDs) have experienced a marked increase in reported prevalence over the past 20 years for reasons that are not comple...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2015-2851E

    authors: Murray DS,Fedele A,Shui A,Coury DL

    更新日期:2016-02-01 00:00:00

  • Family history predicts stress fracture in active female adolescents.

    abstract:OBJECTIVE:Increased physical activity and menstrual irregularity have been associated with increased risk for stress fracture among adult women active in athletics. The purposes of this study were to determine whether menstrual irregularity is also a risk factor for stress fracture in active female adolescents and to e...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-2145

    authors: Loud KJ,Micheli LJ,Bristol S,Austin SB,Gordon CM

    更新日期:2007-08-01 00:00:00

  • Bedside diagnosis of influenzavirus infections in hospitalized children.

    abstract:OBJECTIVE:For preventing nosocomial influenza infections and to facilitate prompt antiviral therapy, an accessible, rapid diagnostic method for influenzavirus is needed. We evaluated the performance of a lateral-flow immunoassay (QuickVue Influenza Test) completed at the bedside of hospitalized children during the infl...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.110.1.83

    authors: Poehling KA,Griffin MR,Dittus RS,Tang YW,Holland K,Li H,Edwards KM

    更新日期:2002-07-01 00:00:00

  • Delay in caffeine elimination in breast-fed infants.

    abstract::Because of a persistently elevated caffeine half-life observed in a breast-fed infant during caffeine maintenance therapy, we conducted this prospective longitudinal study in two groups of infants (five exclusively breast-fed and 12 formula-fed). After 46 weeks' postconceptional age, all five breast-fed infants had a ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Le Guennec JC,Billon B

    更新日期:1987-02-01 00:00:00

  • Childhood primary aldosteronism due to an adrenal adenoma: preoperative localization by adrenal vein catheterization.

    abstract::Primary aldosteronism resulting from an adrenal adenoma is rare in children. An 8 1/2-year-old girl was found to have hypertension and spontaneous hypokalemia, both detected as incidental findings. Subsequent investigations revealed inappropriately elevated levels of plasma and urinary aldosterone with suppressed plas...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Ganguly A,Bergstein J,Grim CE,Yum MN,Weinberger MH

    更新日期:1980-03-01 00:00:00

  • Tight glycemic control with insulin in hyperglycemic preterm babies: a randomized controlled trial.

    abstract:OBJECTIVE:The optimal treatment of neonatal hyperglycemia is unclear. The aim of this trial was to determine whether tight glycemic control with insulin improves growth in hyperglycemic preterm infants, without increasing the incidence of hypoglycemia. METHODS:Randomized, controlled, nonblinded trial of 88 infants bor...

    journal_title:Pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1542/peds.2011-2470

    authors: Alsweiler JM,Harding JE,Bloomfield FH

    更新日期:2012-04-01 00:00:00

  • The effects of stimulant medication on the growth of hyperkinetic children.

    abstract::This article reviews the literature on possible growth-suppressing effects of stimulant medications in the long-term treatment of children with the hyperkinetic behavior syndrome. The evidence clearly indicates a temporary retardation in the rate of growth in weight and suggests a temporary slowing of growth in statur...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Roche AF,Lipman RS,Overall JE,Hung W

    更新日期:1979-06-01 00:00:00

  • Neck/shoulder, low back, and arm pain in relation to computer use, physical activity, stress, and depression among Dutch adolescents.

    abstract:OBJECTIVE:To examine among adolescents (1) the prevalence of neck/shoulder, low back, and arm pain within different sociodemographic groups and (2) the association of neck/shoulder, low back, and arm pain with computer use, physical activity, depression, and stress. METHODS:A school-based questionnaire survey in 2002 ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2004-2766

    authors: Diepenmaat AC,van der Wal MF,de Vet HC,Hirasing RA

    更新日期:2006-02-01 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

  • Race, otitis media, and antibiotic selection.

    abstract:BACKGROUND AND OBJECTIVE:Previous research suggests that physicians may be less likely to diagnose otitis media (OM) and to prescribe broad-spectrum antibiotics for black versus nonblack children. Our objective was to determine whether race is associated with differences in OM diagnosis and antibiotic prescribing natio...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2014-1781

    authors: Fleming-Dutra KE,Shapiro DJ,Hicks LA,Gerber JS,Hersh AL

    更新日期:2014-12-01 00:00:00

  • Psychosocial functioning of children with cystic fibrosis.

    abstract::The adjustment of children with cystic fibrosis as rated by parents and teachers was compared to that of physically healthy siblings, normal children, and other chronically ill children. The findings indicated that children with cystic fibrosis achieved an age-adequate level of adjustment at home and school. Adjustmen...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Drotar D,Doershuk CF,Stern RC,Boat TF,Boyer W,Matthews L

    更新日期:1981-03-01 00:00:00

  • Risk Stratification to Decrease Unnecessary Diagnostic Imaging for Acute Appendicitis.

    abstract:BACKGROUND:There has been an increase in the use of imaging modalities to diagnose appendicitis despite evidence that can help identify children at especially high or low risk of appendicitis who may not benefit. We hypothesized that the passive diffusion of a standardized care pathway (including diagnostic imaging rec...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章

    doi:10.1542/peds.2015-4031

    authors: Depinet H,von Allmen D,Towbin A,Hornung R,Ho M,Alessandrini E

    更新日期:2016-09-01 00:00:00

  • Physical activity in children attending preschools.

    abstract:OBJECTIVE:To identify correlates of objectively measured moderate and vigorous physical activity (MVPA) in children during preschool attendance. METHODS:This cross-sectional study included data from 426 apparently healthy Danish children (49.5% boys), 5 to 6 years of age enrolled in 42 randomly selected preschools. Th...

    journal_title:Pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1542/peds.2012-3961

    authors: Olesen LG,Kristensen PL,Korsholm L,Froberg K

    更新日期:2013-11-01 00:00:00

  • Navajo perceptions of asthma and asthma medications: clinical implications.

    abstract:BACKGROUND:Despite the large number of asthma patients, relatively little is known about the beliefs of asthmatic children and their parent(s), or the extent to which these beliefs influence management of the disease. OBJECTIVE:The purpose of this study was to examine how medication-taking and the use of health care s...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.108.1.e11

    authors: Van Sickle D,Wright AL

    更新日期:2001-07-01 00:00:00

  • Should chloral hydrate be banned?

    abstract:OBJECTIVE:Current federal regulations of potentially carcinogenic environmental chemicals are based on the assumption that risks for humans can be extrapolated from the effects of chronic high-dose exposure of rodents. It is assumed that all chemicals induce cancer by a genotoxic mechanism (direct interaction with DNA)...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:

    authors: Steinberg AD

    更新日期:1993-09-01 00:00:00

  • Echocardiographic predictors of outcome in newborns with congenital diaphragmatic hernia.

    abstract:OBJECTIVE:Despite new treatments, congenital diaphragmatic hernia (CDH) still has high mortality. The aim of this study was to identify echocardiographic predictors of outcome in newborns with an isolated CDH. METHODS:We reviewed medical charts and echocardiograms of 40 newborns who presented with CDH in the first 24 ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.105.5.1106

    authors: Suda K,Bigras JL,Bohn D,Hornberger LK,McCrindle BW

    更新日期:2000-05-01 00:00:00

  • Growth of hyperkinetic children taking methylphenidate, dextroamphetamine, or imipramine/desipramine.

    abstract::One hundred children with the hyperkinetic syndrome or minimal brain dysfunction syndrome were treated with medication: 60 with methylphenidate (Ritalin), 24 with dextroamphetamine (Dexedrine), and 16 with either imipramine or desipramine. The duration of treatment was for a minimum of two years, and averaged five yea...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Gross MD

    更新日期:1976-09-01 00:00:00

  • Special needs of vulnerable and underserved populations: models, existing and proposed, to meet them.

    abstract::The rapidly changing environment in the health care industry offers great challenges, especially to those providers who traditionally have cared for vulnerable and underserved populations. These populations have special health care needs resulting from various factors, including race, geography, environment, and lack ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Shirley A

    更新日期:1995-10-01 00:00:00

  • Fatal hepatitis B in early infancy: the importance of identifying HBsAg-positive pregnant women and providing immunoprophylaxis to their newborns.

    abstract::Infants born to women who are asymptomatic hepatitis B surface antigen (HBsAg) carriers frequently acquire hepatitis B virus infection in infancy. The spectrum of disease in such affected infants includes mild transient acute hepatitis B, chronic active hepatitis with or without cirrhosis, chronic persistent hepatitis...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Delaplane D,Yogev R,Crussi F,Shulman ST

    更新日期:1983-08-01 00:00:00

  • Status of newborn screening programs in the United States.

    abstract:BACKGROUND:Newborn screening programs have expanded over the years; currently, many programs screen for dozens of congenital conditions that, if not detected and treated early, could result in catastrophic health consequences, including death. Some programs, however, still require universal newborn screening for only a...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-2633C

    authors: Therrell BL,Johnson A,Williams D

    更新日期:2006-05-01 00:00:00