European Academy of Paediatrics abstracts
Results: Corneal cystine crystals were the most common ocular
ESPR session: kidney
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ANALYSIS OF CONGENITAL ANOMALIES OF THE KIDNEYS AND
URINARY TRACT USING ARRAY-BASED COMPARATIVE GENOMIC
HYBRIDISATION
1 association with hypocalcaemia and non-compliance with calcium
S Weber, 1M Renkert, 2 C Landwehr, 2 A Hoischen, 1E Wühl, 3 B Radlwimmer, 1F
Schaefer, 2 RG Weber. 1 Department of Pediatric Nephrology, University Children’s Hopsital
Heidelberg, Heidelberg, Germany; 2 Department for Human Genetics, University Bonn,
Bonn, Germany; 3 Department for Molecular Genetics, DKFZ, Heidelberg, Germany
Objective: Congenital anomalies of the kidneys and urinary tract
(CAKUT) are frequently associated with malformations of other
organ systems. In a high number of cases the aetiology of
maldevelopment remains unexplained. Array-based comparative
genomic hybridisation (CGH) was tested to determine the
detection rate of genomic microimbalances in these patients.
Methods: We analysed DNA samples of 30 unexplained CAKUT
patients affected by at least one additional relevant extrarenal
symptom using the genome-wide screening technology array CGH.
Subsequently, results were verified by fluorescence in situ hybridi-
sation (FISH) analysis in both patients’ and parental samples.
Results: Two of 30 patients presented microimbalances in array
CGH analysis, confirmed by FISH analysis. Patient A showed a de
novo microdeletion in 3q (3q23–q24), patient B an unbalanced
translocation (46,XY, der(1)t(1;16)(q44;q23.3) with partial monos-
omy of 1q44 and trisomy of bands 16q23.3 to 16q24.3. Clinically,
patient A was affected by a multicystic-dysplastic kidney associated
with mental retardation, microcephalus, growth retardation and
multiple joint contractions. Patient B presented with microhaema-
turia, hypospadia, eye anomalies, cleft palate, auricular fistula,
laryngomalacia, mental retardation and corpus callosum agenesis.
Conclusion: The identification of these microimbalances allowed
the restriction of the critical interval harbouring possible causative
genes. In total, the results demonstrate that array CGH is a
promising approach to identify a genetic origin in a subset of
patients affected by congenital complex malformations.
THE INCIDENCE OF OCULAR ABNORMALITIES IN CHILDHOOD
CHRONIC RENAL FAILURE
AJ Al Mosawi. Department of Pediatrics, University Hospital in Al Kadhimiyia, Baghdad, Iraq
Objectives: Few literature reports the incidence of ocular abnorm-
alities in chronic renal failure (CRF). The aim of this paper is to
determine the incidence of ocular abnormalities in childhood CRF.
Methods: From January 1993 to December 2005, 80 patients with
CRF (at the University Hospital in Al Kadhimiyia) were examined
to determine the presence of ocular abnormalitites. Fifty patients
were male (62.5%) and 30 (37%) were female. Their age at referral
ranged from 2 months to 18 years (mean 9 years). They were
followed for a period ranging from 5 days to f years.
Arch Dis Child 2008;93(Suppl II):A47
abnormalities associated with childhood CRF observed in six
patients with nephropathic cystinosis (7.5%). Congenital cataract
and glaucoma were observed in three patients (3.75%) with oculo-
cerebro-renal syndrome (OCRS). Congenital cataract and chorior-
etinal hypoplasia were present in one patient with OCRS.
Hypertensive retinopathy occurred in two patients. Acquired
cataracts occurred in one patient with Hinman syndrome in
and one-alphacalciferol supplementation. Retinitis pigmentosa
occurred in one patient with Laurence Moon Biedle syndrome.
Bilateral optic atrophy occurred in one patient with familial
nephropathy associated with club feet. Proptosis occurred in one
patient with membranoproliferative glomerulonephritis.
Conclusion: Ocular abnormalities are relatively common in child-
hood CRF, occurring in approximately 19%.
A COMPARATIVE IMMUNOHISTOCHEMICAL STUDY OF
MULTICYSTIC RENAL DYSPLASIA, FETAL AND EMBRYONIC
KIDNEYS AND INFANTILE CONTROLS
AK Urbiztondo, RL Romaguera, JH Bruce, MM Rodriguez. Department of Pathology,
University of Miami, Jackson Memorial Hospital, Miami, Florida, USA
Objective: Multicystic renal dysplasia (MRD) causes perinatal
mortality and infantile renal failure. Dysplastic kidneys contain
dilated tubules surrounded by immature mesenchyme, cartilage,
muscle and nerve. Several growth and transcription factors are
implicated in renal development in animal models, but there are
very few human studies so far.
Method: We selected 20 autopsies with MRD, 17 controls and 19
fetal–embryonic kidneys (gestations between 3.5 and 19 weeks).
Immunohistochemical staining with Pax2, transforming growth
factor beta (TGFb), BLC2, and b-catenin were localised and
quantified.
Results: Pax2 stained the nuclei of dysplastic tubular epithelium
and subcapsular non-dysplastic tubules, the nephrogenic zone and
proximal tubules of controls and was strongly positive in the
nephrogenic zone and some tubules in fetal kidneys. The intensity
of staining decreased with age. Pax2 was not detected in mature
glomeruli. TGFb staining was negative in MRD, controls and
fetuses–embryos. BCL2 stained the cytoplasm of dysplastic tubules.
In controls, it was positive in the nephrogenic zone, proximal
tubules and medulla. In fetal kidney, the subcapsular staining
formed a cap around S-shaped bodies. b-Catenin exhibited
membranous staining in dysplastic tubules and some subcapsular
non-dysplastic tubules. It was seen in the nephrogenic zone and
medulla of controls and in fetal tubules and glomeruli.
Conclusions: Pax2, BCL2 and b-catenin are expressed in dysplastic
tubular epithelium and even stronger in the nephrogenic zone of
fetal and infantile kidneys; renal mesenchyme is negative in normal
and dysplastic kidneys. In controls, the intensity of Pax2 staining
decreases as the kidney matures. TGFb is not expressed in MRD,
controls or fetal–embryonal kidneys.
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