Congenital disease of the Kideny

Question 1

What are the paediatric renal investigations?

Answer 1

Antenatal US,
Ultrasound,
Micturating cystourethrogram,
Nuclear medicine (DMSA or MAG 3)
CT
MR

Question 2

What are the different types of renal congenital anomalies?

Answer 2

Renal dysplasia/hypoplasia,
Renal Agenesis
MCDK,
Renal cystic dysplasia,
Obstructive uropathy,
Vesico-ureteric reflux

Question 3

What is renal agenesis?

Answer 3

Congenital absence of renal parenchymal tissue. If bilateral it is incompatible with life

Question 4

What is renal hypodysplasia, its presentation and management?

Answer 4

Congitally small kidneys with dysplastic features.
Neonates - acidosis, lung issues and raised creatinine
Children - failure to thrive, anorexia, proteinuria.
Supportive management

Question 5

Describe features of multicystic dysplastic kidney (MCDK)

Answer 5

It is detected antenatally as an abdominal mass on foetus. Different to PKD as only one kidney is made up of cysts, rarely both but if so then foetal death. Some involute. Risk of malignancy and hypertension

Question 6

What is the antenatal presentation of autosomal recessive polycystic kidney disease?

Answer 6

Oligohydramnios (decreased volume of amniotic fluid)

Question 7

What are the two types of polycystic kidney disease

Answer 7

Autosomal recessive - less common and presents earlier.
Autosomal dominant

Question 8

What are the features of autosomal recessive PKD

Answer 8

Presents with abdominal mass or renal failure.
Newborns may have potter’s syndrome.
Children tend to develop end stage renal failure.
Can also have liver involvement.
Biopsy shows multiple cylindrical lesions.

Question 9

What are the causes of ADPKD

Answer 9

Type 1 - defects in polycystin 1
Type 2 - defects in Polycystin 2

Question 10

What are the associated anomalies with ARPKD

Answer 10

Congenital hepatic fibrosis, portal hypertension and ascending cholangitis.
Poor prognosis and can develop ESRF

Question 11

What is the screening and diagnostic criteria for PKD?

Answer 11

Screened via ultrasound. Diagnostic criteria with positive family history:
Age < 30 - two cysts unilateral or bilateral.
Age 30-59 - Two cysts in both kidneys.
Age > 60 - four cysts in each kidneys

Question 12

What is the presentation and investigations for autosomal dominant polycystic kidney disease in childhood

Answer 12

Presentation - Haematuria, hypertension, flank pain and UTIs.
Investigation - ultrasound which may show large echogenic kidneys with macrocysts

Question 13

What is Potter’s syndrome?

Answer 13

Occurs due to oligohydramnios: underdeveloped cartilage, low set ears, flat noses, underdeveloped foetal lungs due to the oligohydramnios

Question 14

What are the associated anomalies with autosomal dominant polycystic kidney disease?

Answer 14

Anomalies - Mitral valve prolapse, cerebral aneurysm, AV malformation, hepatic/pancreatic cysts, colonic diverticula.

Question 15

What are the clinical features of ADPKD?

Answer 15

Chronic loin/flank pain,
Hypertension,
Gross haematuria (with cyst rupture),
Recurrent UTIs,
Renal stones,
End stage renal failure
Extra-renal: liver cysts, berry aneurysms, CV disease (mitral valve prolapse), cysts in other organs

Question 16

What is the management of ADPKD?

Answer 16

Supportive management: ACEi for hypertension, analgesia for pain, abx for UTIs, drainage of symptomatic cysts, dialysis and renal transplant.
Meds - Tolvaptan (vasporessin receptor antagonist) which slows progression of disease. Given if stage 2/3 CKD, rapidly progressive disease or patient access scheme.

Question 17

Describe features of hydronephrosis

Answer 17

It is enlargement of the kidneys which is associated with renal injury and impairment.
- More common in males. Often caused by vescio-ureteric reflux or obstruction of the urinary tract.
- Postnatal US shows renal pelvis >10mm in diameter

Question 18

Describe features of Pelvis/Ureter junction obstruction

Answer 18

It can be partial or total blockage of urine. More common in males.
It is diagnosed antenatally. It presents with an abdo mass, abdo/flank pain UTIs and failure to thrive

Question 19

Describe features of vesico-ureteric junction obstruction

Answer 19

It can be a functional or anatomical abnormality.
It can cause a megaureter with ureteric dilitation >7mm
It can also cause hydronephrosis

Question 20

Describe features of posterior urethral valves (presentation, investigation and management)

Answer 20

Most common obstructive uropathy.
It is detected antenatally and presents with bilateral hydronephrosis and UTIs.
Investigated via ultrasound or MCUG
Risk of CKD
Management with cystoscopy

Question 21

What is vesico-ureteric reflux and the diagnostic imaging

Answer 21

Retrograde passage of urine from bladder into upper urinary tract. It can cause UTIs which lead to scarring, hypertension and ESRF.
- Diagnosis is via MCUG
- Low grade is likely to resolve on its own