Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism.

Abstract:

:The findings of hyperechoic and enlarged fetal kidneys on routine antenatal ultrasonography is a non-specific finding that alerts the physician to a differential diagnosis of various genetic and non-genetic disorders, including fetal polycystic disease and Beckwith-Wiedeman syndrome. Detection of fetal or neonatal polycystic kidneys should alert the physician to the possibility of an associated lethal autosomal recessive inborn error of fatty acid metabolism known as multiple acyl-CoA-dehydrogenase defect (MADD). We report a case of fetal nephromegaly associated with rare inborn error of MADD. This case highlights the need for appropriate laboratory investigation of hyperechoic, enlarged fetal kidneys, and neonatal polycystic disease. The association of MADD with postnatally diagnosed polycystic disease of the kidney has been reported. The antenatal detection of nephromegaly followed by the subsequent postnatal diagnosis of MADD has not been previously reported. MADD should be considered in the differential diagnosis of this antenatal finding. Appropriate diagnostic procedures should be conducted, either pre- or postnatally, in order that appropriate genetic counseling may be provided for this autosomal recessively inherited disorder.

journal_name

Am J Perinatol

authors

Whitfield J,Hurst D,Bennett MJ,Sherwood WG,Hogg R,Gonsoulin W

doi

10.1055/s-2007-994309

subject

Has Abstract

pub_date

1996-04-01 00:00:00

pages

131-4

issue

3

eissn

0735-1631

issn

1098-8785

journal_volume

13

pub_type

杂志文章
  • Center differences in NEC within one health-care system may depend on feeding protocol.

    abstract::We tabulated the incidence of necrotizing enterocolitis (NEC) during a recent 4-year period among three neonatal intensive care units (NICUs) within a single health-care system. We then sought associations to explain differences in NEC incidence between the centers. Between January 1, 2002, and December 31, 2005, 6787...

    journal_title:American journal of perinatology

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-2007-995220

    authors: Wiedmeier SE,Henry E,Baer VL,Stoddard RA,Eggert LD,Lambert DK,Christensen RD

    更新日期:2008-01-01 00:00:00

  • Screening for intrauterine growth restriction in uncomplicated pregnancies: time for action.

    abstract::A randomized clinical trial (RCT) noted that sonographic examination in the third trimester, in conjunction with delivery at term for abnormalities of fetal growth, significantly decreased the likelihood of small-for-gestational-age (SGA) neonates in uncomplicated pregnancies. We identified 15 characteristics of scree...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0032-1321497

    authors: Chauhan SP,Rouse DJ,Ananth CV,Magann EF,Chang E,Dahlke JD,Abuhamad AZ

    更新日期:2013-01-01 00:00:00

  • Developmental aspects of percutaneous caffeine absorption in premature infants.

    abstract::Caffeine is commonly used in the treatment of apnea of prematurity. The skin of preterm infants varies considerably in its level of maturity. To understand skin absorption in low birthweight infants (less than 1500 gm) with gestational age between 26 and 34 weeks, a group of 56 preterm babies was studied after percuta...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-999282

    authors: Amato M,Hüppi P,Isenschmid M,Schneider H

    更新日期:1992-09-01 00:00:00

  • Altered mRNA expression pattern of placental epidermal growth factor receptor (EGFR) in pregnancies complicated by preeclampsia and/or intrauterine growth retardation.

    abstract::Placental pathology in preeclampsia (PE) and intrauterine growth retardation (IUGR) is associated with alterations of the placental epidermal growth factor receptor (EGFR). It is encoded by a single gene, which gives rise to two different full-length transcripts and one putative truncated transcript in the placenta. T...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-993890

    authors: Faxén M,Nasiell J,Blanck A,Nisell H,Lunell NO

    更新日期:1998-01-01 00:00:00

  • An analysis of second-stage labor beyond 3 hours in nulliparous women.

    abstract:OBJECTIVE:To analyze outcomes after second-stage labor beyond 3 hours and determine if prolonged second stages were intentional. STUDY DESIGN:Retrospective cohort analysis of maternal and neonatal outcomes in nulliparous women based on second-stage duration. Medical records were reviewed for management decisions in wo...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0032-1314894

    authors: Bleich AT,Alexander JM,McIntire DD,Leveno KJ

    更新日期:2012-10-01 00:00:00

  • Factors that Influence Longitudinal Growth from Birth to 18 Months of Age in Infants with Gastroschisis.

    abstract:OBJECTIVE:This study aimed to investigate factors that influence growth in infants with gastroschisis. STUDY DESIGN:Growth parameters at birth, discharge, 6, 12, and 18 months of age were collected from 42 infants with gastroschisis. RESULTS:The mean z-scores for weight, length, and head circumference were below norm...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0039-1693988

    authors: Nair N,Merhar S,Wessel J,Hall E,Kingma PS

    更新日期:2020-12-01 00:00:00

  • Impact of advanced maternal age on pregnancy outcome.

    abstract::The aim of this study was to compare the pregnancy outcome and delivery complications in women 40 years or older (cases) to that of women 20 to 30 years old (controls). Over a 5-year period, 319 cases had a singleton delivery in our institution. These women were compared with 326 controls. Parity was significantly hig...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2002-20175

    authors: Seoud MA,Nassar AH,Usta IM,Melhem Z,Kazma A,Khalil AM

    更新日期:2002-01-01 00:00:00

  • Oxygenation of the human fetus as a function of hemoglobulin concentration.

    abstract::We studied the relationships between fetal hemoglobin concentration, acid base status, and lactate concentration in umbilical venous and fetal heart blood in 157 fetuses affected by blood group incompatibility who had been exposed for 214 fetal blood sampling procedures (cordocentesis in 153 and intracardiac puncture ...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994524

    authors: Westgren M,Lingman G,Stangenberg M

    更新日期:1994-01-01 00:00:00

  • Acute pyelonephritis in pregnancy.

    abstract::There were 107 episodes of pyelonephritis associated with pregnancy or the early puerperium occurring in 103 gravidas investigated retrospectively for information concerning prematurity, low birthweight, and antibiotic susceptibility patterns in the recovered microorganisms. No difference was found in the incidence of...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-999800

    authors: Fan YD,Pastorek JG 2nd,Miller JM Jr,Mulvey J

    更新日期:1987-10-01 00:00:00

  • Use of a PCR-based assay for fetal Cw antigen genotyping in a patient with a history of moderately severe hemolytic disease of the newborn due to anti-Cw.

    abstract::Anti-Cw is an uncommon cause of clinically significant hemolytic disease of the newborn (HDN). We report an unusually severe case of HDN due to anti-Cw that required phototherapy and exchange transfusion. We also describe a novel PCR-RFLP method for Cw typing of fetal genomic DNA that was used for prenatal diagnosis i...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-993872

    authors: Reiner AP,Teramura G,Aramaki KM

    更新日期:1999-01-01 00:00:00

  • The Use of Sequential Integrated Screening to Stratify Risk in Monochorionic-Diamniotic Twin Pregnancies.

    abstract:OBJECTIVE: This study aimed to identify differences in sequential integrated screening and early ultrasound markers in monochorionic/diamniotic (MC/DA) pregnancies complicated by twin-to-twin transfusion syndrome (TTTS) and unequal placental sharing (UPS). STUDY DESIGN: Retrospective cohort study of MC/DA pregnancies ...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0040-1718371

    authors: Miller E,Blat C,Gosnell K,Gonzalez J,Ghaffari N

    更新日期:2020-10-08 00:00:00

  • Survival of an infant with pulmonary hypoplasia treated with dexamethasone.

    abstract::Pulmonary hypoplasia is lethal in its most severe form; in less severe cases the clinical course is protracted, usually resulting in chronic lung disease. A case of unexpected survival of an infant with clinical and radiologic evidence of pulmonary hypoplasia, in whom dexamethasone was administered, is presented. Poss...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-999375

    authors: Hurt H,Salvador A,Capitanio M

    更新日期:1991-05-01 00:00:00

  • Intrauterine coxsackie virus, group B type 1, infection: viral cultivation from amniotic fluid in the third trimester.

    abstract::We report a case that presents clear evidence of an intrauterine infection of twin fetuses with an enterovirus. The mother had signs and symptoms of chorioamniotitis at 34 weeks' gestation. Coxsackie virus, group B type 1 (CVB1), was cultured from amniotic fluid obtained by transabdominal amniocentesis when the membra...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994407

    authors: Strong BS,Young SA

    更新日期:1995-03-01 00:00:00

  • Does individual room implemented family-centered care contribute to mother-infant interaction in preterm deliveries necessitating neonatal intensive care unit hospitalization?

    abstract::The aim of the study was to investigate the effect of individual room care in the neonatal intensive care unit (NICU) on the factors that influence mother-preterm infant interaction. Mothers in group I had hospitalization with their preterm infants in an individual room in the NICU. Mothers in group II were not hospit...

    journal_title:American journal of perinatology

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-0028-1095186

    authors: Erdeve O,Arsan S,Canpolat FE,Ertem IO,Karagol BS,Atasay B,Yurdakok M,Tekinalp G,Turmen T

    更新日期:2009-02-01 00:00:00

  • Tocolytic treatment for preterm contractions with and without cervical changes.

    abstract::Our purpose was to evaluate the impact of intravenous and oral tocolysis on prolongation of gestation for women with preterm uterine contractions and/or labor. Candidates for evaluation and treatment including women with contractions between 24 and 35 weeks. Two hundred women (group I) without cervical changes met the...

    journal_title:American journal of perinatology

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-2007-994169

    authors: Brown HL,Hiett AK,Britton KA,Turnquest MA,Golichowski AM

    更新日期:1997-08-01 00:00:00

  • Plasma homocysteine in late pregnancies complicated with preeclampsia and in newborns.

    abstract::The aim of this study was to determine the relationship between maternal serum homocysteine levels in preeclampsia and the severity of the disease, neonatal serum homocysteine levels, maternal complications, and fetal outcome. Fifty pregnant women were included in this prospective study, of which 25 were severe (group...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2005-918889

    authors: Baksu A,Taskin M,Goker N,Baksu B,Uluocak A

    更新日期:2006-01-01 00:00:00

  • Rare manifestations of sirenomelia syndrome: a report of five cases.

    abstract::Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusio...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2004-835314

    authors: Drossou-Agakidou V,Xatzisevastou-Loukidou C,Soubasi V,Kostopoulou E,Laporda A,Pantzaki A,Agelidou S,Kremenopoulos G

    更新日期:2004-10-01 00:00:00

  • Maternal Obesity Is an Independent Risk Factor for Intensive Care Unit Admission during Delivery Hospitalization.

    abstract:OBJECTIVE:We aim to quantify the impact of obesity on maternal intensive care unit (ICU) admission. MATERIALS AND METHODS:This is a population-based, retrospective cohort study of Ohio live births from 2006 to 2012. The primary outcome was maternal ICU admission. The primary exposure was maternal body mass index (BMI)...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0038-1660460

    authors: Masters HR,Housley E,Van Hook JW,DeFranco E

    更新日期:2018-12-01 00:00:00

  • Aplasia cutis congenita in an infant of an initial triplet gestation: a case report.

    abstract::Aplasia cutis congenita (ACC) is the clinical manifestation of an uncommon group of skin disorders. One postulated etiology is disseminated intravascular coagulation from release of thrombogenic maternal arising from placental injury or fetal demise. This leads to disruption of the ectodermal blood supply responsible ...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-1999-7279

    authors: Da-Silva SS,Fagbongbe EO

    更新日期:1999-01-01 00:00:00

  • Obestatin Reduces Intestinal Damage in Experimental Necrotizing Enterocolitis in Newborn Rats.

    abstract:OBJECTIVE:To investigate the effect of pretreatment with obestatin (OB), an endogenous hormone also found in mother's milk, in experimental necrotizing enterocolitis (NEC). STUDY DESIGN:Pups were randomized into four groups: control, OB-control, NEC, and OB-NEC. NEC was induced by asphyxia and hypothermia in the NEC a...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0038-1676491

    authors: Korkut S,Özdemir A,Yay AH,Yalçın B,Ceylan M,Korkmaz L,Yazıcı C,Güntürk İ,Kurtoğlu S

    更新日期:2019-09-01 00:00:00

  • Management of Breech Presentation: A Comparison of Four National Evidence-Based Guidelines.

    abstract:OBJECTIVE:The management of breech presentation may improve perinatal outcomes. The aim of this study was to synthesize and compare published evidence of four national guidelines on breech presentation. STUDY DESIGN:A descriptive review of four recently published national guidelines on breech presentation and external...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0039-1692391

    authors: Tsakiridis I,Mamopoulos A,Athanasiadis A,Dagklis T

    更新日期:2020-09-01 00:00:00

  • A simplified risk-scoring system for prematurity.

    abstract::Prematurity, the major cause of perinatal morbidity and mortality, results from a multifactorial interaction of medical, historic, and psychosocial conditions. Although the literature contains several reports of prematurity risk-scoring systems, the relative importance of specific risk factors may depend on the popula...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-999893

    authors: Ross MG,Hobel CJ,Bragonier JR,Bear MB,Bemis RL

    更新日期:1986-10-01 00:00:00

  • Effect of maternal intravenous glucose administration on fetal heart rate patterns and fetal breathing.

    abstract::This study was undertaken to evaluate the effect of maternal intravenous (IV) administration of glucose on fetal breathing and its associated fetal heart patterns. Sixteen healthy women at term gestation participated in the study. The outcome of each of the pregnancies was normal. Fetal breathing and fetal electrocard...

    journal_title:American journal of perinatology

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-2007-999973

    authors: Divon MY,Zimmer EZ,Yeh SY,Vilenski A,Sarna Z,Paldi E,Platt LD

    更新日期:1985-10-01 00:00:00

  • Association between Hospital Birth Volume and Maternal Morbidity among Low-Risk Pregnancies in Rural, Urban, and Teaching Hospitals in the United States.

    abstract::Objectives This study aims to examine the relationship between hospital birth volume and multiple maternal morbidities among low-risk pregnancies in rural hospitals, urban non-teaching hospitals, and urban teaching hospitals, using a representative sample of U.S. hospitals. Study Design Using the 2011 Nationwide Inpat...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0035-1570380

    authors: Kozhimannil KB,Thao V,Hung P,Tilden E,Caughey AB,Snowden JM

    更新日期:2016-05-01 00:00:00

  • Fetal varicella syndrome with manifestations limited to the eye.

    abstract::The manifestations of fetal varicella syndrome usually involve several organ systems, including skin, ocular, neurologic, gastrointestinal, and genitourinary. Although ocular anomalies have been reported to be as high as 68%, manifestations limited to the eyes is extremely rare. Herein we report the case of fetal vari...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994493

    authors: Andreou A,Basiakos H,Hatzikoumi I,Lazarides A

    更新日期:1995-09-01 00:00:00

  • Effect of different phototherapy lights on incubator characteristics and dynamics under three modes of servocontrol.

    abstract::Phototherapy is one of the most common therapeutic interventions in modern neonatal medicine. Analysis of physiological responses to phototherapy requires understanding the physical effects of incident light under different modes of environmental control. In this study, we tested the effect of initiation of photothera...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-2007-994402

    authors: Dollberg S,Atherton HD,Hoath SB

    更新日期:1995-01-01 00:00:00

  • Buccal versus Vaginal Misoprostol for Term Induction of Labor: A Retrospective Cohort Study.

    abstract:OBJECTIVE:To compare the efficacy of similar buccal and vaginal misoprostol doses for induction of labor. STUDY DESIGN:Retrospective chart review of 207 consecutive women undergoing term induction of labor with misoprostol. Misoprostol route and dosing were collected. Time to delivery and other labor outcomes (e.g., v...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0038-1675219

    authors: Dorr ML,Pierson RC,Daggy J,Quinney SK,Haas DM

    更新日期:2019-06-01 00:00:00

  • Higher-dose oxytocin to prevent obstetric hemorrhage at vaginal delivery-does duration of infusion matter?

    abstract:OBJECTIVE:Postpartum higher-dose oxytocin (80 U) compared with lower dose (10 U) given in 500 mL over 1 hour does not decrease postpartum hemorrhage (PPH) requiring treatment, but reduces the risk of hematocrit decline ≥ 6% among women delivering vaginally. Our objective was to evaluate whether the duration of administ...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0034-1370347

    authors: Subramaniam A,Abramovici AR,Szychowski JM,Roach M,Owen J,Biggio JR,Tita AT

    更新日期:2014-11-01 00:00:00

  • Hermansky-Pudlak syndrome in pregnancy.

    abstract::Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesi...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0029-1220777

    authors: Spencer J,Rosengren S

    更新日期:2009-10-01 00:00:00

  • Neurodevelopmental Outcomes in Neonates with Mild Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia.

    abstract:OBJECTIVE:To review developmental outcomes of neonates with mild hypoxic-ischemic encephalopathy (HIE) treated with therapeutic hypothermia (TH). STUDY DESIGN:Neonates ≥35 weeks' gestation with mild HIE/TH (TH group, n = 30) were matched with healthy term-born infants (control group, n = 30) and reviewed for the prese...

    journal_title:American journal of perinatology

    pub_type: 杂志文章

    doi:10.1055/s-0038-1676973

    authors: Rao R,Trivedi S,Distler A,Liao S,Vesoulis Z,Smyser C,Mathur AM

    更新日期:2019-11-01 00:00:00