Congenital Abnormalities of the Kidney

Question 1

What is the embryological development of the kidneys?

Answer 1

They develop from pronephros, mesonephros, metanephros. At 10 weeks they being to produce urine

Question 2

What are the paediatric renal investigations?

Answer 2

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

Question 3

What are the different types of renal congenital anomalies?

Answer 3

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

Question 4

What is renal agenesis?

Answer 4

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

Question 5

What is renal hypodysplasia, its presentation and management?

Answer 5

• Congenitally small kidneys with dysplastic feature (malformed renal tissue).
• It presents in the neonate with lung issues, acidosis, and raised Cr. In children it presents with failure to thrive, anorexia, vomiting and proteinuria.
• Management is supportive

Question 6

Describe features of multicystic dysplastic kidney (MCDK)

Answer 6

It is detected antenatally as an abdominal mass on foetus. Some involute. Risk of malignancy and hypertension

Question 7

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

Answer 7

Oligohydramnios (decreased volume of amniotic fluid)

Question 8

Explain the presentation of autosomal recessive polycystic kidney disease in infancy and childhood

Answer 8

Infancy - Large palpable renal mass, respiratory distress, renal failure, hyponatremia and hypertension.
Childhood - renal failure and hypertension

Question 9

What are the associated anomalies with ARPKD

Answer 9

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

Question 10

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

Answer 10

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

Question 11

What are the associated anomalies and management of autosomal dominant polycystic kidney disease?

Answer 11

Anomalies - Mitral valve prolapse, cerebral aneurysm, AV malformation, hepatic/pancreatic cysts, colonic diverticula.
Management is supportive and direct by using Tolvaptan

Question 12

Describe features of hydronephrosis

Answer 12

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 13

Describe features of Pelvis/Ureter junction obstruction

Answer 13

• 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 14

Describe features of vesico-ureteric junction obstruction

Answer 14

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

Question 15

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

Answer 15

• 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 16

What is vesico-ureteric reflux and the diagnostic imaging

Answer 16

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

Question 17

Describe features of UTIs in children

Answer 17

• It occurs when there is significant bacteriuria with >10x5 CFU/ml.
• Diagnosed via urine collection - CCS, MSSU or catheter specimen,
• Likely caused by E.coli. Other organisms are more suspicious

Question 18

What are host factors that can increase the risk of UTIs?

Answer 18

• Age,
• Constipation,
• Urinary obstruction,
• Vesico ureteric reflux,
• Bladder/bowel dysfunction,
• Catheterisation,
• Sexually active

Question 19

What are the clinical presentations of upper and lower urinary tract infections and the management

Answer 19

Upper - Pyrexia, vomiting, systemic upset and abdo pain.
Lower - Dysuria, frequency, haematuria and wetting.
- Investigate if concerned about anomalies (if recurrent UTIs) as reccurent infections can cause scarring and HT/ESRF.
- Management via antibiotics, fluids, regular voiding and avoiding constipation.