GIT review

Question 1

congenital malformations of the kidney

Answer 1

20% of renal failure in kids is due to renal dysplasia or hypoplasia

Question 2

agenesis of the kidney

Answer 2

complete absence of one or both kidneys
results from a major disruption of metanephric development at an early stage (interaction between the ureteric bud and metanephric blastema
mix of genetic and environmental factors including infections

Question 3

bilateral agenesis

Answer 3

potter’s syndromes

• incompatible with life
• oligohydrammois (fetal urine produced around week 16, usually contributes to amniotic fluid)
• hypoplastic lungs

Question 4

patter’s syndrome also called

Answer 4

bilateral renal agenesis

Question 5

potters facies

Answer 5

large low set ears 
wide set eyes 
flattening of the nose 
receding chin 
prominent skin folds over the eyes

Question 6

unilateral agenesis

Answer 6

• usually asymptomatic
• many have other abnormalities of the genitourinary tract like vesicoureteric reflux
• ipsilateral ureter is absent or rudimentary
• the contralateral kidney undergoes compensatory hypertrophy

Question 7

hypoplasia of the kidneys

Answer 7

small but normally developed

usually occurs unilaterally

Question 8

ectopic kidney

Answer 8

• A Kidney not located in its usual position
• usually just above the pelvic brim or within the pelvis (resulting from failure of the kidney to ascend during embryogenesis)
• rarely seen in the thoracic cavity
• normal or slightly small, flatenned

Question 9

horseshoe kidney

Answer 9

fusion of the upper or lower poles of the two kidneys
usually lower poles
gets hooked at the inferior mesenteric artery (lower in the abdomen than normal kidneys)
common and usually incidentally detected

Question 10

polycystic disease of the kidney

Answer 10

polycystic disease

• autosomal dominant PKD
• autosomal recessive PKD
• glomerulocystic kidney disease

Question 11

cystic disease of the renal medulla

Answer 11

• nephronophthisis

- medullary sponge kidney

Question 12

simple renal cysts

Answer 12

• common finding in normal kidneys
• usually cause no symptoms or signs
• occasionally can rupture, cause haematuria, pain, abdominal mass, infection, hypertension
• major issue is excluding a more serious disorder eg. malignancy

Question 13

clues to malignancy in cystic renal lesions

Answer 13

• multiple septa
• thicket cyst wall
• solid areas within or around the cyst

Question 14

cystic renal dysplasia

Answer 14

• malformation of the kidney
• unilateral or bilateral
• often associated with obstruction/reflux
• consists of irregular cysts or varying sizes
• common cause of an abdominal mass in infants

Question 15

histology of cystic renal dysplasia

Answer 15

persistence of abnormal structures like cartilage, immature mesenchyme, immature collecting ductules, with abnormal lobular organisation

Question 16

polycystic kidney disease

Answer 16

• cystic genetic disorders of the kidneys
• two types - autosomal dominant and recessive
  both types are characterised by numerous fluidd filled cysts in the kidneys, causing massive enlargement

Question 17

autosomal dominant polycystic kidney disease

Answer 17

• common
• 10% of end stage renal failure patients having dialysis have ADPKD
• autosomal dominance with high penetrance
• proteins called polycystins which are important in the function of cilia

Question 18

ADPKD development

Answer 18

cyst formation begins in utero
cysts grow overtime, compress surrounding renal tissue, cause renal failure
kidneys become overgrown

Question 19

presenting complaint of ADPKD

Answer 19

• patients typically present in 30s-50s
• flank pain due to abdominal mass or renal stones
• pain from haemorrhage into a cyst
• haematuria
• hypertension

Question 20

associated congenital abnormalities of ADPKD

Answer 20

• cysts in the liver, pancreas, spleen , lungs
• intracranial berry aneurysms
• mitral valve prolapse

Question 21

autosomal recessive polycystic kidney disease

Answer 21

• rare
• autosomal recessive
• PKHD1 gene - protein called fibrocystic in cilia
• also causes liver cysts
• smooth kidneys, smaller cysts
• requires kidney transplant for survival

Question 22

obstructive uropathy

Answer 22

• obstruction to the urinary tract
• acute or chronic
• may be unilateral or bilateral
• any level from urethra to pelvis
• intrinsic, extrinsic
• enlargement of the prostate is a common cause

Question 23

causes of obstructive uropathy

Answer 23

• congenital anomalies
• urinary calculi
• benign prostatic hypertrophy
• tumours of the prostate, bladder, lymph nodes
• inflammation
• sloughed renal papillae/blood clots
• normal pregnancy
• uterine prolapse and cystocoele
• functional

Question 24

symptoms of obstructive uropathy

Answer 24

• kidney enlargement
• dilatation of the renal pelvis.calyces
• hydronephrisis
• thick walled bladder - muscle hypertrophies
• hydroureter - ureter expands

Question 25

hydropnephrosis

Answer 25

water inside the kidney distension and dilatation of the renal pelvis and calyces, caused by obstruction to the free flow of wine from the kidney leads to atrophy of the kidney

Question 26

obstructive uropathy clinical presentation

Answer 26

- pain from dilatation of the renal capsule/ureter/bladder - urinary tract infections - urinary calculi - renal failure - partial bilateral obstruction - inability to concentrate urine - complete bilateral obstruction - fatal

Question 27

urolithiasis

Answer 27

common men >women starts 20-30 often have family history

Question 28

types of kidney stones

Answer 28

- calcium oxalate - uric acid - struvute - calcium phosphate - others

Question 29

calcium containing stones (usually calcium oxalate) risk factors

Answer 29

- dehydration - hypercalciuria (with or without hypercalcaemia) - hyperoxaluric - genetic defects (increased oxalate excretion), dietary causes

Question 30

hypercalcaemia

Answer 30

increase absorption in the GI tract, hormonal causes

Question 31

hypercalciuria

Answer 31

impaired renal tubules don't reabsorb Ca effectively

Question 32

hyperoxaluric

Answer 32

genetic defects (increased oxalate excretion), dietary causes - rhubarb, spinach, chocolate, nuts and beer

Question 33

uric acid stones - risk factors

Answer 33

dehydration acidic urine hyperuricaemia - diet rich in shellfish, red meat increased urinary excretion of uric acid - rapid cell turnover eg,. leukaemia, chemotherapy

Question 34

struvite stones

Answer 34

- magnesium ammonium phosphate - after infection with urea-splitting bacteria - urea becomes ammonia, making urine more alkaline, precipitation of magnesium ammonium phosphate

Question 35

complications of urolithiasis

Answer 35

- silent - pass into the ureters - pain and obstruction - ulceration and bleeding - haematuria - infection

Question 36

renal colic

Answer 36

excruciating pain often constant rather than intermittent radiates from the flank to the groin urinary urgency, restlessness, haematuria, sweating, nausea, vomting pain associated with a ureteric stone

Question 37

summary of obstructive disease

Answer 37

- structural or functional hindrance of urine flow, sometimes leads to renal dysfunction - can occur at any point in the urinary tract, can affect one or both kidneys - common cause is calculi - common presentation is renal colic - complications are infection, renal failure