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Y5 Urinary System > List II - Less Common 'Know of' Conditions > Flashcards

List II - Less Common 'Know of' Conditions Flashcards

1
Q

What is adult polycystic kidney disease (PCKD)?

A
  • Autosomal dominant condition - late onset in adults

* Autosomal recessive condition - early onset in children

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2
Q

What is the cause of adult polycystic kidney disease?

A
  • Genetic mutation - autosomal dominant type
  • PKD1 chr 16 (90% cases)
  • PKD2 chr 4 (10-15% cases)
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3
Q

How common is adult PCKD?

A
  • Most common hereditary cause of chronic renal failure
  • 100/100,000
  • 8.9% <65yrs on renal replacement therapy

AR - 1/20,000 live births

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4
Q

What is the pathophysiology for PCKD?

A
  • AD - 100% penetrance, variable expression
  • PKD1/2 encodes for polycystin 1 and 2 (present in tissues other than kidney)
  • Cysts arise in any part of the kidney
  • Initially small sized
  • Later grows up to >5kg
  • Late onset of symptoms in adulthood
  • CRF - quicker onset if male, PKD1, <30 yrs at symptom onset
  • PKD2 get symptoms 15 yrs after PKD1’s
  • AR - gene on chromosome 6
  • Cysts only arise in distal tubule and collecting ducts
  • Early onset of symptoms in childhood
  • Increased BP and renal failure
  • Portal hypertension
  • Hepatomegaly
  • Extremis cystic disease associated with pulmonary hypoplasia and death
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5
Q

What are the presenting symptoms/signs of PCKD?

A

Symptoms

  • Loin pain, haematuria, recurrent UTI
  • Bleeding into cyst - pain, frank haematuria
  • Enlarging kidneys
  • Flank pain, fullness and chronic abdominal discomfort

Signs

  • Hypertension with cystic changes as size of cysts grow
  • Palpable masses in abdomen
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6
Q

What are the differential diagnoses of PCKD?

A
  • RCC
  • UTI
  • CRF
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7
Q

Which bloods should be done to investigate PCKD?

A
  • FBC
  • U and E
  • Consider genetic testing - can confirm radiological findings
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8
Q

What are the radiological investigations for PCKD?

A
  • Abdominal USS
  • Confirm bilateral kidney cysts that are distributed throughout the kidney (AD)
  • Enlarged kidneys (cyst expansion/interstitial fibrosis)
  • Liver cysts
  • Pancreatic cysts
  • CT abdomen
  • Screen for other pathology
  • Consider cerebral angiography
  • If suspecting expanding aneurysm
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9
Q

What is the aim of management of PCKD?

A
  • No specific treatment

* Therapy for complications

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10
Q

What are the medical options for PCKD?

A
  • Analgesia - opiates
  • Anti-hypertensives
  • UTI - prolonged course may be needed to penetrate cyst wall
  • USS guided cyst aspiration - only if extremely painful
  • Renal replacement therapy - once chronic renal failure is significant - dialysis
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11
Q

What is the surgical management option for PCKD?

A
  • Renal transplant
  • Indication - end stage renal failure
  • Native kidneys are sometimes removed prior to patient being accepted onto transplant list to make sufficient room for transplant
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12
Q

What are the possible complications of PCKD?

A
  • AD
  • Berry aneurysms (10% of families have experienced SAH)
  • Mitral valve prolapse
  • Inguinal hernias
  • Aneurysms in vertebral/coronary arteries
  • Renal impairment (usually in adulthood)
  • AR
  • Perinatal mortality 50%
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13
Q

What is the prognosis of PCKD?

A
  • Renal transplant - up to 50% need transplant by the age of 70 yrs
  • If BP is not controlled well, eGFR will decline faster
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14
Q

What preventative measures are available for PCKD?

A
  • Abdominal USS / screening / genetic counselling

- Offered to family members of confirmed PCKD patients

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15
Q

What are the causes of a urethral stricture?

A
  • Iatrogenic e.g. traumatic placement of indwelling catheters
  • Sexually transmitted infections
  • Hypospadias
  • Lichen sclerosis
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16
Q

What is vesicoureteric reflux?

A
  • Abnormal backflow of urine from the bladder into the ureter and kidney
  • Relatively common abnormality of the urinary tract in children predisposes to UTI
  • Found in around 30% of children who present with UTI
  • Around 35% of children develop renal scarring, it is therefore important to investigate for VUR in children following a UTI
17
Q

What is the pathophysiology of VUR?

A
  • Primary - Ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle
  • Therefore shortened intramural course of ureter
  • Vesicoureteric junction cannot therefore function adequately
  • Secondary - Neurogenic bladder
18
Q

How is VUR graded?

A
  • I - Reflux into the ureter only, no dilatation
  • II - Reflux into the renal pelvis on micturation, no dilatation
  • III - Mild/moderate dilatation of the ureter, renal pelvis and calyces
  • IV - Dilation of the renal pelvis and calyces with moderate ureteral tortuosity
  • V - Gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity
19
Q

What are the investigations required for VUR?

A
  • Normally diagnosed following a micturating cystourethrogram
  • DMSA scan may also be performed to look for renal scarring
20
Q

For children being treated for a UTI what imaging should be done?

A
  • Arrange USS of the urinary tract during the acute infection for all children with atypical infection:
  • Poor urine flow
  • Abdominal or bladder mass
  • Raised creatinine
  • Sepsis
  • Failure to respond to treatment with suitable antibiotics within 48 hrs
  • Infection with non-E. coli organisms
  • USS during the acute infection in children aged under 6 months with recurrent UTI
  • USS within 6 weeks for children aged 6 months and over with recurrent UTI
  • USS within 6 weeks, for all children younger than 6 months of age with first time UTI that responds to treatment
  • Dimercaptosuccinic acid scintigraphy (DMSA) scan should be done to detect renal parenchymal defects within 4-6 months following the acute infection in the following groups
  • All children aged under 3 years with atypical or recurrent UTI
  • All children aged 3 years or over with recurrent UTI

NB children with abnormal imaging results should be assessed by a paediatric specialist

21
Q

What is the definition of a recurrent UTI in children?

A
  • Two or more episodes of UTI with acute pyelonephritis/upper UTI or
  • One episode of UTI with acute pyelonephritis/upper UTI plus one more episode of UTI with cystitis/lower UTI or
  • Three or more episodes of UTI with cystitis/lower UTI

NB If a child is suspected of having a UTI and is under 3 months - refer urgently to paediatric specialist for treatment with antibiotics and send urine sample for urgent microscopy and culture

22
Q

What is glomerulonephritis?

A
  • Includes a variety of conditions, predominantly within the following two syndromes:
  • Nephritic syndrome
  • Nephrotic syndrome
  • Mixed
23
Q

What are the distinguishing features of nephritic syndrome?

A
  • Presents with the following:
  • Haematuria
  • Hypertension
24
Q

What are the distinguishing features of nephrotic syndrome?

A
  • Presents with the following:
  • Proteinuria
  • Oedema
25
Q

Which glomerulonephritides are associated with nephritic syndrome?

A
  • Rapidly progressive GN
  • IgA nephropathy
  • Alport syndrome
26
Q

What are the features of rapidly progressive GN?

A
  • AKA crescentric glomerulonephritis
  • Rapid onset, often presenting as AKI
  • Causes include Goodpasture’s, ANCA positive vasculitis
27
Q

What are the features of IgA nephropathy?

A
  • AKA Berger’s disease, mesangioproliferative GN
  • Typically young adult with haematuria following UTRI
  • Consideral pathological overlap with HSP
28
Q

Which glomerulonephritides are mixed (nephritic/nephrotic) ?

A
  • Diffuse proliferative glomerulonephritis

* Membranoproliferative glomerulonephritis (mesangiocapillary)?

29
Q

What are the features of diffuse proliferative glomerulonephritis?

A
  • Post streptococcal glomerulonephritis in children
  • Presents as nephritic syndrome / AKI
  • Most common form of renal disease in SLE
30
Q

What are the features of membranoproliferative glomerulonephritis (mesangiocapillary)?

A
  • Type 1 - Cryoglobuminaemia, hepatitis C

* Type 2 - Partial lipodystrophy

31
Q

Which glomerulonephritides are associated with nephrotic syndrome?

A
  • Minimal change disease
  • Membranous glomerulonephritis
  • Focal segmental glomerulosclerosis
32
Q

What are the features of minimal change disease?

A
  • Typically in a child with nephrotic syndrome 80%
  • Causes - Hodgkin’s, NSAID’s
  • Good response to steroid treatment
33
Q

What are the features of membranous glomerulonephritis?

A
  • Proteinuria / nephrotic syndrome / CKD
  • Cause - infection, rheumatoid drugs, malignancy
  • 1/3 resolve, 1/3 respond to cytotoxic drugs, 1/3 develop CKD
34
Q

What are the features of focal segmental glomerulosclerosis?

A
  • Idiopathic or secondary to HIV, heroin

* Proteinuria / nephrotic syndrome / CKD

35
Q

What is orthostatic proteinuria?

A
  • Defined as normal urinary protein excretion during the night but increased excretion during the day, associated with activity and posture
  • Levels above 1g per 24 hrs are more likely to be associated with underlying renal disease
  • Exact cause is unknown
36
Q

Who can be affected by orthostatic proteinuria?

A
  • Most common in children and young adults - most commonly young adult males
  • Prevalence 2-5% of adolescents and rare in those older than 30 years
37
Q

What is the presenting clinical features of orthostatic proteinuria?

A
  • Positive urinary protein dipstick during the day but negative tests with early morning urine
  • All other investigations of renal function and urinary tract anatomy are normal
38
Q

What is the management of orthostatic proteinuria?

A
  • Refer to nephrologist to rule out any other cause of persistent proteinuria
  • Management of nut cracker syndrome depends on the clinical presentation and the severity of the left renal vein hypertension
39
Q

What is the prognosis of orthostatic proteinuria?

A
  • Long term prognosis is excellent
  • Although many patients continue to have proteinuria of minor degree for several decades, they do not get hypertension or renal impairment

Y5 Urinary System (3 decks)

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