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Congenital renal abnormalities (Types (Renal agenesis (Potter syndrome) …
Congenital renal
abnormalities
Clinical
presentation
Foetal anomaly scanning
Neonatal examination
Childhood
Diagnosis
Examination
Abdo exam
Abdo distension, yellow (uraemia), pallor,
palpable kidney
Neonatal exam
Dysmorphic features, distended abdomen,
palpable kidneys
History
DH
Allergies, meds
PMH
Growth and development
Vaccinations
Known medical conditions
POH
Bloods, scans, growth, gestation,
delivery, weight, complications
PC/HPC
Abnormal USS, abnormal
appearance at birth,
urinary retention
FH
Renal conditions
SH
Living arrangements, school/nursery
Investigations
Bloods
FBC, CRP, U+E, GFR, insulin/EDTA clearance,
Cr clearance, plasma urea
Imaging
USS KUB (structure)
AXR (stones)
Bedside
Obs (HTN etc.)
Special tests
Micturating urogram (reflux, obstruction)
DMSA scan (abnormal tissue/scarring)
Complications
UTIs
Obstruction
CKD
Screening
Antenatal screening programme
Foetal anomaly scan (USS 18-20w)
Renal agenesis, dysplastic kidney,
horseshoe kidney, obstruction etc.)
Definition
Developmental structural
abnormality of the kidneys
Epidemiology
Rare (1/300)
Types
Renal agenesis (Potter syndrome)
Both kidneys absent, thus severe oligohydraminos
Foetal compression, which is fatal
Low set ears, beaked nose, epicanthic folds, downward eye slant
Pulmonary hypoplasia, limb deformities
Multicystic dysplastic kidney
Failed union of ureter to the bladder, with non-functioning cystic mass with no renal tissue
If bilateral, results in Potter syndrome
Polycystic kidney disease
AD or AR
Some/normal renal function with cysts
Horseshoe kidney
Abnormal caudal migration causing adjoined kidney
May have infection or obstruction
Duplex kidney
Premature division of ureteric bud
Two ureters from one kidney (upper and lower poles)
Reflux, prolapse
Obstruction
Unilateral hydrnephrosis (PUJ/VUJ)
Bilateral hydronephrosis (bladder neck, urethral valves)
Bladder extrosopy
Failed fusion of umbilical midline structures
Deficient anterior abdo wall muscles, large bladder, distended ureters (prune belly syndrome)
Management
Conservative
Information, advice, support
Consultant led care (regular USS)
USS at birth (ASAP if bilateral hydro to exclude
posterior uretral valves, 4-6w if unilateral)
Medical
Abx
Indication: from birth if hydronephrosis
MOA:
Surgical
Cystoscopic ablation
Indication: bilateral nephrosis with
posterior urethral valves