Congenital Urogenital Abnormalities Flashcards
When do the kidneys develop?
Between 5th and 12th week
By 13th produce urine
Renal Agenesis Prevalence
1:2000 - unilateral
1:5000 - bilateral
Renal Agensis (unilateral) USS features
- Unilateral - non visualisation 1 kidney
- normal bladder/ amniotic fluid
- colour Doppler = 1 renal artery
- compensatory hypertrophy of contralateral kidney
Renal Agensis (bilateral) USS features
- Non visualisation of both kidneys and bladder
@ >17 weeks - Renal artery not seen on colour Doppler
- Adrenal glands = discoid shape, move laterally and inferiorly
May also be
Small fetal chest
Cardiac hypertrophy
Talipes
Renal Agenesis - Pathophysiology
Normally isolated/ sporadic
Failure of ureteric bud to fuse with mesonephric
Renal Agenesis - Chromosomal Defects
1-2% - associated chromosomal defects (mostly Trisomy 18)
Renal Agenesis - Associated Genetic Syndromes
Found in up to 10% of cases
Most common = Fraser syndrome
Fraser Syndrome
Autosomal recessive
Renal Agenesis
Laryngeal Atresia
Cryptophthalmos
Syndactyly
VACTERL association (Vertebral and ventricular septal defects, anal atresia, tracheo-oesophageal fistula, renal abnormalities, radial dysplasia, single umbilical artery)
VACTERL association
Vertebral and ventricular septal defects, anal atresia, tracheo-oesophageal fistula, renal abnormalities, radial dysplasia, single umbilical artery
Unilateral Renal Agenesis Management
Refer to FMU
Detailed USS
Unilateral + associated abnormalities =
offer invasive testing
Isolated unilateral renal agenesis = standard antenatal/ intrapartum care with good prognosis
Renal Agenesis in Female Infants
Postnatal pelvic USS to look for abnormalities in Mullerian structures
Bilateral Renal Agenesis Management
Lethal condition (usually in PN period due to pulmonary hypoplasia)
Invasive testing not normally offered
Continue pregnancy + palliative care planning, OR termination
Renal Agenesis Recurrence
3% in non syndromes mic cases
Unilateral - in 15% parent has unilateral renal agenesis (increased risk of recurrence)
Autosomal Dominant PKD
1:1000 people are gene carriers
Autosomal Dominant PKD clinical onset
30-50 years
Autosomal Dominant PKD - antenatal detection
Enlarged hyperechogenic kidneys (smaller than in autosomal recessive disease)
Renal pelvis seen
Bladder and amniotic fluid normal
Note normal fetal USS appearance does not exclude developing PKD in later life
AD PKD - associated abnormalities
No increase risk chromosomal abnormalities
Maybbe a/w pancreatic, hepatic and ovarian cysts
AD PKD - gene mutation
85% = PKD1 Gene on Chromosome 16
15% = PKD2 gene on chromosome 4
AD PKD - prenatal diagnosis
CVS in first trimester
AD PKD - management
4 weekly USS to assess amniotic fluid volume
Intrapartum care is standard
AD PKD risk of recurrence
50% as AD
Autosomal Recessive PKD - prevalence
1:30,0000 births
Autosomal Recessive PKD - Types
Perinatal - lethal due to pulmonary hypoplasia
Neonatal
Infantile + Juvenile - chronic renal failure, hepatic fibrosis, portal HTN (may survive into teens and require transplant)
Autosomal Recessive PKD - USS features
Bilaterally enlarged hyperechoic kidneys
Usually found at > 24 weeks gestation
Renal pelvis not visualised
Gradual onset polyhydramnios
Autosomal Recessive PKD - Associated syndromes
Incidence of chromosomal abnormalities and genetic syndromes not increased
Associated cystic fibrosis of liver (appears normal on USS) - more sever renal disease = less severe hepatic fibrosis
AR PKD - gene mutation
PKHD 1 gene on Chromosome 6
AR PKD - prenatal testing
CVS in 1st trimester
Reliable in 80% of affected families
AR PKD - monitoring
USS every 4 weeks to monitor fluid
AR PKD - delivery
Hospital with NICU
Offer IOL around 38 weeks
AR PKD - risk of recurrence
25% as AR
