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
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)
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
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
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
6
Q
What are the differential diagnoses of PCKD?
A
- RCC
- UTI
- CRF
7
Q
Which bloods should be done to investigate PCKD?
A
- FBC
- U and E
- Consider genetic testing - can confirm radiological findings
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
9
Q
What is the aim of management of PCKD?
A
- No specific treatment
* Therapy for complications
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
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
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%
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
14
Q
What preventative measures are available for PCKD?
A
- Abdominal USS / screening / genetic counselling
- Offered to family members of confirmed PCKD patients
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
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
Which glomerulonephritides are associated with nephritic syndrome?
* Rapidly progressive GN
* IgA nephropathy
* Alport syndrome
26
What are the features of rapidly progressive GN?
* AKA crescentric glomerulonephritis
- Rapid onset, often presenting as AKI
- Causes include Goodpasture's, ANCA positive vasculitis
27
What are the features of IgA nephropathy?
* AKA Berger's disease, mesangioproliferative GN
- Typically young adult with haematuria following UTRI
- Consideral pathological overlap with HSP
28
Which glomerulonephritides are mixed (nephritic/nephrotic) ?
* Diffuse proliferative glomerulonephritis
| * Membranoproliferative glomerulonephritis (mesangiocapillary)?
29
What are the features of diffuse proliferative glomerulonephritis?
* Post streptococcal glomerulonephritis in children
* Presents as nephritic syndrome / AKI
* Most common form of renal disease in SLE
30
What are the features of membranoproliferative glomerulonephritis (mesangiocapillary)?
* Type 1 - Cryoglobuminaemia, hepatitis C
| * Type 2 - Partial lipodystrophy
31
Which glomerulonephritides are associated with nephrotic syndrome?
* Minimal change disease
* Membranous glomerulonephritis
* Focal segmental glomerulosclerosis
32
What are the features of minimal change disease?
* Typically in a child with nephrotic syndrome 80%
* Causes - Hodgkin's, NSAID's
* Good response to steroid treatment
33
What are the features of membranous glomerulonephritis?
* Proteinuria / nephrotic syndrome / CKD
* Cause - infection, rheumatoid drugs, malignancy
* 1/3 resolve, 1/3 respond to cytotoxic drugs, 1/3 develop CKD
34
What are the features of focal segmental glomerulosclerosis?
* Idiopathic or secondary to HIV, heroin
| * Proteinuria / nephrotic syndrome / CKD
35
What is orthostatic proteinuria?
* 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
Who can be affected by orthostatic proteinuria?
* 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
What is the presenting clinical features of orthostatic proteinuria?
* 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
What is the management of orthostatic proteinuria?
* 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
What is the prognosis of orthostatic proteinuria?
* 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
