Abstract UENPS.238The insertion/deletion ACE gene polymorphism is associated withreduced newborn kidney size

Beata Loniewska⁎, Mariusz Kaczmarczyk, Anna Kuprjanowicz, Grazyna Adler,Agnieszka Binczak-Kuleta, Iwona Goracy, Agnieszka Kordek,Jacek Rudnicki, Andrzej CiechanowiczPAM, Szczecin, Poland

Background and aim

Suboptimal nephron number may be associated with increased risk foressential hypertension and susceptibility to renal injury. All of the componentsof the renin–angiotensin system (RAS) are present in the developing kidneyand play an important role in nephrogenesis. Several studies in animal modelsof fetal programming have shown that lower expression of RAS componentsduring the active period of nephrogenesis is associated with lower nephronnumber and hypertension in later life. The ACE gene encoding angiotensin I-converting enzyme, which has been mapped to human chromosome 17q23,has insertion/deletion (I/D) polymorphism in intron 16 consisting of a 287-base pair Alu repeat sequence with three genotypes: II, ID, and DD. The DDhomozygotes had higher plasma ACE levels than II subjects, and intermediateACE levels were observed in ID heterozygotes. The genetic effect accounted for47% of the total variance of serum ACE. Therefore, the aim of the study was toanalyze an association between the I/D ACE polymorphism and subtle renalhypoplasia in healthy full-term newborn infants.

Materials and methods

The study group consisted of 93 healthy Polish infants who were born towomen with uncomplicated pregnancies. Newborns delivered <36 weeks, orwith low birth weight (<2500 g), genetic abnormalities, renal malformationsor hydronephrosis as well as twins were excluded from the study. At birth,cord blood was obtained for isolation of leukocyte DNA. ACE genotypes wereassessed by PCR. Left and right kidney volumes were measured byultrasonography in newborns during the first 4 days of life with thefollowing equation: [volume=4/3 ??(length/2) (height/2) (width/2). Bodysurface area (BSA) was estimated from newborn length and weight with thefollowing equation: BSA=(height×weight/3600) 1/2.

Results

Characteristics of the newborn cohort (n=93) are shown in Table 1. Twentyfour II homozygotes, 43 ID heterozygotes and 26 DD homozygotes were found inthe studied group.Mean (±SD) newborn length, right kidney volume, total kidneyvolume and total kidney volume/BSA were significantly higher in DD homo-zygotes as compared with II+ID subjects. The total kidney volume/BSA amongnewbornswith at least one I allele (II+ID)was 10% lower than that inDD subjects.

Conclusions

Our results suggest that the reduced kidney size in normal newborns maybe partially due to a common I/D ACE polymorphism.

Table 1Characteristics of study subjects with regard to ACE genotype

Variable Total II+ ID DD p

Gender (% female) 49.5 50.8 46.2 0.691Gestational age (week) 39.6±1.3 39.6±1.2 39.5±1.4 0.743Weight (g) 3324.7±555.6 3285.9±557.1 3424.8±549.9 0.282BSA (m2) 0.227±0.026 0.224±0.026 0.232±0.025 0.164Left kidney volume (ml) 12.4±3.5 12.0±3.0 13.6±4.4 0.052Right kidney volume (ml) 11.9±3.5 11.3±3.2 13.4±3.9 0.008Total kidney volume (ml) 24.3±6.7 23.3±5.9 27.0±8.2 0.018Total kidney volume/BSA(ml/m2)

106.9±25.3 103.6±22.4 115.4±30.4 0.043

doi:10.1016/j.earlhumdev.2008.09.254

Abstract UENPS.239Angiotensin converting enzyme gene polymorphisms and acute renalfailure in babies with RDS

Bilge Tanyeri, Canan Aygun⁎, Abdulkerim Bedir,Sukru Kucukoduk, Ozan OzkayaOndokuz Mayis University, Samsun, Turkey

Background and aim

The etiology of acute renal failure (ARF) in newborns is multifactorial. TheincidenceofARF is reportedas6–24% inbabies admitted toNeonatal IntensiveCareUnits (NICU);with a higher ratio inpretermbabies. Especially small pretermswithrespiratory distress syndrome (RDS) are vulnerable to ARF. Hypotension, hypoxia,patent ductus arteriosus (PDA) are cited as etiological factors forARF in babieswithRDS, but genetical factors might also predispose some of these babies to ARF. Theaim of this study is to determine the association between ARF and angiotensinconverting enzyme (ACE) gene polymorphisms in preterm babies with RDS.

Materials and methods

One-hundred thirty two preterm babies followed in NICU between May2005 and December 2007, diagnosed as RDS and receiving at least one dose ofsurfactant were included in the study. 2 ml of blood was obtained from thesebabies within the first hour of birth, during umbilical catheterization. ARF wasdiagnosed as serum creatinine >1.5mg/dl (despite a normalmaternal creatininelevel) and/or oligo/anuria after the first 24 h of life. Babies were grouped as theones with ARF andwithout ARF. The clinical characteristics, renal function tests,postnatal complications such as intraventricular hemorrhage (IVH), periven-tricular leucomalasia (PVL), retinopathy of prematurity (ROP), PDA and deathwere also recorded. Angiotensin converting enzyme gene genotypes from DNAsamples were determined as DD, II and ID by polymerase chain reaction. TheHardy–Weinberg equilibrium was checked in all groups (all preterm babies,babies with ARF and babies without ARF) by x2 tests for each polymorphism. Allthe markers were in Hardy–Weinberg equilibrium.

Results

Thirty-nine (29.5%) of all preterm babies with RDS developed ARF.Vasomotor nephropathy was the leading cause of ARF in the study (79.5%).The second most common etiology for ARF was sepsis (20.5%). None of thebabies had a congenital renalmalformation leading to ARF. Genetic polymorph-ismsofACEgenehadno impacton the developmentofneonatalARF in the studygroup. Besides, ACE gene polymorphisms did not affect the frequency of IVH,PVL, ROP and PDA. Sepsis and death were lower in babies with DD genotype.

Conclusions

ACE gene polymorphisms do not effect the development of ARF inpremature babies with RDS.

The study was supported by Ondokuz Mayis University Scientific ProjectNumber: T-413.

doi:10.1016/j.earlhumdev.2008.09.255

Abstract UENPS.240The frequency of the urinary tract infection in term neonates withprolonged jaundice, Oromieh Iran

Nader Pashapour⁎, Sarriyeh GolmohammadlouOromieh Medical Science University, Oromieh, Iran

Background and aim

Breast-feeding is a major cause of prolonged jaundice and may disguiseother important causes such urinary tract infection (UTI). The aim of thisstudy was to evaluate the frequency of UTI and to determine the importanceof performing UTI work-up in neonates with prolonged jaundice in an areawith high breastfeeding rate.

Abstracts S99

Materials and methods

Jaundiced, otherwise clinically well infants more than 2 weeks of agewith complaint of visible yellow color of skin or eye, brought or referred tothe Newborn Nursery of Imam Hospital, Orumieh Iran, for evaluation ofprolonged jaundice were included in this study between April 2005 andMarch 2006. Work-ups of prolonged hyperbilirubinemia including directCoombs test, blood types of infant and mother, complete blood count, bloodsmear, glucose-6-phosphate dehydrogenase level, reticulocyte, bilirubinlevel, T4, TSH and urine analysis and culture were performed. Pediatricnephrologists carried out further investigation and follow-up of UTI cases.

Results

All cases were breastfed. Forty-three male infants (43%) and 57 femaleinfants (57%) were studied. Among 100 neonates enrolled in the study, 6 (6%)suffered from UTI; 4 of these were male and the rest female. Reflux on VCUGand kidney cortical defect on DSMA were detected in two male neonates.

Conclusions

The frequency of UTI is high in prolonged jaundice in the area where thestudy was conducted. Based on the results, we recommend that performingof urine cultures is necessary and should be considered as a routineprocedure in the evaluation of every prolonged jaundiced infant.

doi:10.1016/j.earlhumdev.2008.09.256

Abstract UENPS.241Transient pseudohypoaldosteronism in an infant with vesicoureteralreflux and urinary tract infection

Zeynel Gokmen⁎, Servet Ozkiraz, Ece Yapakci, Esra Baskin, Aylin TarcanAnkara, Ankara, Turkey

Background and aim

Congenital urologic malformations occur with an incidence of 1/100 to 1/200, leading to an increased risk of urinary tract infections. However, mostpatients remain without symptoms; serious electrolyte imbalance is rare.

Materials and methods

We report an infant who was admitted to hospital because of failure tothrive and poor weight gain. He had severe hyponatraemia and hyperkalae-mia. Further work-up established pseudohypoaldosteronism secondary todilated vesicoureteral reflux and urinary tract infection.

Results

A boy was born to a 26 years-old mother, gravida 3, parity 3, at 37 gestationalweeks via cesarean section. Birth weight was 2250 g, with APGAR score 8/9.Prenatal and postnatal ultrasonography revealed right hydroureteronephrosis.Grade V vesicoureteral reflux was detected on postnatal day 14 and amoxicilineprophylaxywasbegun.Hewas admitted tohospital becauseof failure to thrive andpoor weight gain on postnatal day 40. Laboratory studies showed hyponatraemia,hyperkalaemia and high levels of plasma renin activity and aldosterone thatsuggest pseudohypoaldosteronism. K. pneumoniae grew up in urine culture.Clinical signs and laboratory tests recovered after fluid resuscitation, sodiumsupplementation and antibiotic treatment of concomitant urinary tract infection.Hewas operated for Grade V vesicoureteral reflux on 60th day of life. He is 4500 gweighted on postnatal day 85, with normal serum electrolyte levels.

Conclusions

The pathogenesis of transient pseudohypoaldosteronism is probably a resultof high intrarenal pressure due to reflux, urinary tract infection and immaturity ofthe tubular function leading to tubular resistance/responsiveness to aldosterone.

doi:10.1016/j.earlhumdev.2008.09.257

Abstract UENPS.242Congenital nephrotic syndromeReport of 2 cases

Cristina Maria Mihai⁎, Larisia Mihai, Adriana Balasa, Ramona MihaelaStoicescu, Valeria Stroia, Corina Frecus, Viviana Cuzic“Ovidius” University, Faculty of Medicine, Constanta, Romania

Background and aim

Congenital nephrotic syndrome is a rare conditionaffecting children frombirthto the third month of life. Classically, there is severe nephrosis in utero associatedwith growth retardation, prematurity and large placenta. Massive proteinuria andnephritic syndrome occur within the first month of life, and this progress to renalimpairment in the autosomal recessive inheritance types. In secondary forms,those due to infections, early diagnosis and specific therapy could lead to a betterprognosis. Treatment options and long term survival strategies are discussed.

Materials and methods

We present 2 patients with 2 different types of congenital nephroticsyndrome. The first patient was diagnosed at 4 weeks of age with congenitalsyphilis and nephrotic syndrome. The second patient was diagnosed at3 weeks of age with a recessive form of congenital nephrotic syndrome.

Results

Different treatment options are discussed. Their evolution was satisfac-tory, initially, but the first patient presented a severe episode of septicemiasecondary to a skin infection; he was treated with a broad spectrumantibiotic and recovered, then was lost on follow up; the second is stilltreated with a complex medication at 10 months of age, awaiting fornephrectomy, peritoneal dialysis and kidney transplantation.

Conclusions

Aggressive nutritional and metabolic support have improved the longterm survival. Caloric intake of 120–130 cal/kg/day with 3–4 g/kg/day ofprotein can provide optimal growth, control edema, and reduce number ofinfections. Recently, new technological advances in infant dialysis are of usein those patients awaiting for the renal transplantation.

doi:10.1016/j.earlhumdev.2008.09.258

Abstract UENPS.243Extreme salt-wasting syndrome in a preterm neonate with remissionafter 4 weeks

Stefan Schlicht⁎, Barbara Kleinlein, Angelika Garhammer, Jochen PetersKinderklinik Dritter Orden, Munich, Germany

Background and aim

Objective: Description and management of a unique case of extreme salt-wasting syndrome in a premature neonate.

Design: Case report, clinical.Setting: Tertiary care intensive care unit.

Materials and methods

Patient: A preterm boy (GA 27+2, 1490 g) with excessive polyuria, renalsalt losses and failure to thrive.

Results

Case description and management: Maximal diuresis was 130 ml/kg/hwith varying urinary sodium concentrations between70 and 130mmol/l. Overa period of 4 weeks fluid and electrolyte replacements required hourlybalancing and secure central venous, arterial and suprapubic accesses. Highdoses of Indometacin and Desmopressin showed no effect on urine output. In

AbstractsS100