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Thick Stuff > Urinary System - Level 3 > Flashcards

Urinary System - Level 3 Flashcards

1
Q

Type of polycystic kidney disease - autosomal dominant?

A

o 85% mutations in PKD1 (c16), 15% have PKD2 (c4) with slower course, PKD3 also described
o Mutations in polycystin 1/2/3 which regulate tubular and vascular development in kidneys and other organs

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2
Q

Type of polycystic kidney disease - autosomal recessive?

A

o Chromosome 6 encoding fibrocystin

o Less common than ADPKD

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3
Q

Epidemiology of polycystic kidney disease?

A
  • AD – 1 in 1000 individuals, 10% of people on dialysis
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4
Q

Symptoms of autosomal dominant polycystic kidney disease?

A

 Loin pain
 Hypertension
 Haematuria

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5
Q

Signs of autosomal dominant polycystic kidney disease?

A 
	Renal enlargement with cysts
	Haematuria
	Cyst infection
	Renal calculi
	Hypertension
	Progressive renal failure
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6
Q

Extra-renal signs of autosomal dominant polycystic kidney disease?

A 
	Liver cysts
	Subarachnoid haemorrhage (SAH)
	Mitral valve prolapse
	Ovarian cysts
	Diverticular disease
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7
Q

Symptoms of autosomal recessive polycystic kidney disease - category 1 - perinatal?

A

 Large abdomen, renal enlargement
 Severe renal impairment in utero – oligohydramnios and pulmonary hypoplasia
 75% result in death within a week of birth

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8
Q

Symptoms of autosomal recessive polycystic kidney disease - category 2 - neonate?

A

 Palpable kidneys at birth and kidney disease progresses
 Liver involvement
 Usually causes death within few months

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9
Q

Symptoms of autosomal recessive polycystic kidney disease - category 3 - infancy?

A

 Enlarged kidneys, hepatosplenomegaly

 Develop ESKD

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10
Q

Symptoms of autosomal recessive polycystic kidney disease - category 4 - childhood?

A

 Marked liver disease
 <10% develop ESKD
 Renal enlargement and hepatosplenomegaly
 Mortality is lowest in this category

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11
Q

Investigations in autosomal dominant polycystic kidney disease - screening for people with family affected?

A

Abdominal USS

Diagnosis when FHx &:

<30 - at least 2 unilateral or bilateral cysts

30 to 59 - 2 cysts in each kidney

> 60 - 4 cysts in each kidney

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12
Q

Investigations in autosomal dominant polycystic kidney disease - other investigations?

A

Bloods
• FBC (high Hb)
• U&E
• Bone profile

Imaging
• USS & CT

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13
Q

Investigations in autosomal dominant polycystic kidney disease - screening for SAH?

A

 MR angiography

 1st degree relatives with SAH + ADPKD

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14
Q

Investigations for autosomal recessive polycystic kidney disease?

A

o USS in perinatal period
o CT and MRI in older children
o Genetic Testing if one diagnosed case in family

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15
Q

Management of polycystic kidney disease - general advice?

A

o Advise against contact sport
o Avoid smoking
o Maintain healthy diet and BMI
o Regular exercise

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16
Q

Management of polycystic kidney disease - monitoring?

A

Annual
o BP
o U&E
o USS

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17
Q

Management of polycystic kidney disease - BP?

A

o Target BP <130/80

o Use ACEi/ARBs

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18
Q

Management of polycystic kidney disease - drug treatment?

A

Tolvaptan
o Slow progression of cysts development and renal insufficiency if CKD stage 2/3 at start of treatment and evidence of rapidly progressing disease

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19
Q

Management of polycystic kidney disease - in end-stage renal failure?

A

Dialysis or transplant

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20
Q

Prognosis of polycystic kidney disease?

A

o 50% will be in ESRD requiring dialysis or transplant by age of 60 in PKD1 and 75 in PKD2

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21
Q

Definition of polycystic ovary disease?

A

o Hyperandrogenism, oligomenorrhoea and polycystic ovaries on US without other causes of polycystic ovaries

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22
Q

Epidemiology of polycystic ovary disease?

A
  • Prevalence = 10% of women at childbearing age.

- Responsible for ~80% of anovulatory subfertility.

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23
Q

Pathogenesis of polycystic ovary disease?

A
  • Excess androgens
    o Hypersecretion of LH (increased frequency and amplitude of LH pulses).
    o LH stimulates androgen secretion from ovarian thecal cells
  • Androgens are steroid hormones (e.g. testosterone) that stimulates or controls the development and maintenance of male characteristics
    o Increased androgens in the ovary disrupt folliculogenesis lead to excess small ovarian follicles (hence the cysts) and irregular/absent ovulation.
    o  peripheral androgens cause hirsutism (acne/body hair).
  • Insulin resistance leads to hyperinsulinemia:
    o Reduced sex hormone binding globulin (SHBG) in liver so increased free testosterone
    o Increased androgen production
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24
Q

Aetiology of polycystic ovary disease?

A
  • Unknown

* Genetic (there is familial clustering of PCOS)

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25
Symptoms of polycystic ovary disease?
o Asymptomatic o Oligomenorrhoea (irregular periods, <9 per year) or amenorrhoea (no periods) o Signs of hyperaldosteronism: acne, hirsutism, alopecia. o Obesity o Psychological: mood swings, depression, anxiety o Sub/infertility o Recurrent miscarriage
26
Signs of polycystic ovary disease?
o Male-pattern baldness, alopecia o Obesity (usually central) o Acanthosis nigricans (areas of increased velvety skin pigmentation which occur in the axillae and other flexures) o Clitoromegaly, increased muscle mass, deep voice - severe
27
Investigations of polycystic ovary disease - bloods?
```  Total testosterone (normal or slightly raised)  Free testosterone (may be raised if >5nmol/L – exclude androgen-secreting tumours and CAH – 17-hydroxyprogesterone)  SHBG (normal or low in PCOS)  LH (elevated)  FSH (normal)  TFTs  Prolactin • To exclude a prolactinoma ```
28
Investigations of polycystic ovary disease - imaging and screening?
o USS o Screen for diabetes (OGTT) and abnormal lipids o BMI
29
What is the Rotterdam criteria for diagnosing polycystic ovary disease?
Requires the presence of 2 out of 3 of: • Polycystic ovaries on US (12 or more follicles or ovarian volume >10 on USS) • Oligo-ovulation or anovulation • Clinical/biochemical features of hyperandrogenism (Acne, excess body hair, alopecia OR raised serum testosterone)
30
Management of PCOS - general advice?
``` o Weight loss o Diet o Exercise o Stop smoking o Sleep apnoea advice ```
31
Management of PCOS - women not planning pregnancy - improving insulin resistance?
 Metformin (not licensed so risks and benefits weighed up)
32
Management of PCOS - women not planning pregnancy - hormonal control?
 COCP cyclical  IUS  If not taking pill (norethisterone 5mg TDS PO for 10 days)
33
Management of PCOS - women not planning pregnancy - hirsutism control?
```  Co-cyprindol 2mg/d  Waxing, shaving  Eflornithine facial cream  Spironolactone • Avoid in pregnancy, teratogenic ```
34
Management of PCOS - women presenting with subfertility and wishing to conceive?
Clomifene citrate  Induces ovulation  Use for <6 cycles  Need US monitoring Metformin added on Laparoscopic Ovarian Drilling  Needlepoint diathermy in 4 places per ovary to reduce steroid production  When clomifene not working
35
Complications of PCOS?
* Infertility * Endometrial hyperplasia and cancer * CVD risk * T2DM – screening offered if obese, FHx, >40 * GDM – screen in pregnancy 24-28 weeks
36
Definition of urethral stricture?
- Narrowing of urethra due to scar tissue developing in tissues - Men common
37
Causes of urethral stricture?
o Iatrogenic (catheter, endoscope, prostatectomy, TURP) o BPH o Trauma (pelvic fracture, straddle injury) o Infection (UTIs, gonorrhoea, chlamydia) o Congenital o Cancer (rare)
38
Symptoms and signs of urethral stricture?
- Reduced urine flow - Straining to pass urine - Spraying of urine or double stream - Incomplete bladder emptying - UTIs - Reduced force of ejaculation
39
Investigations of urethral stricture?
- Post-void bladder US - Urine flow tests - Retrograde urethrogram (antegrade cystourethrogram if suprapubic catheter in place)
40
Management of urethral stricture?
- Dilating and stretching - Stenting (work best for short strictures) - Internal urethrotomy (endoscopic) - Urethroplasty
41
Definition of vesicoureteric reflux?
- Reflux of urine from bladder into ureter - Usually due to primary maturation abnormality of vesicoureteral junction which leads to impairment of normal pinch-cock action of VUJ in micturition - Can be unilateral or bilateral
42
Epidemiology of vesicoureteric reflux?
Females common - 25% of children <6 with first-time URI have VUR and 25% have significant VUR - 1-3% prevalence in general population - Most common cause of chronic pyelonephritis
43
Associated conditions of vesicoureteric reflux?
o Congenital obstructive posterior urethral membrane (COPUM) o Bulbar urethral obstruction (Cobb collar) o Ureteral partial obstruction o Duplex collecting system
44
Symptoms of vesicoureteric reflux?
``` - Recurrent UTIs o Dysuria o Frequency o Offensive smelling urine o Abdominal pain o Fever ```
45
Investigations of vesicoureteric reflux?
- US KUB | - Micturating cysto-urethrogram (MCUG)
46
What is MCUG and how is it graded in vesicoureteric reflux?
Micturating cysto-urethrogram (MCUG) o Bladder catheterised, then filled with dye and x-ray o Graded:  1 – limited to ureters  2 – renal pelvis  3 – mild dilatation of ureter and pelvicalyceal system  4 – tortuous ureter with moderate dilatations, blunt fornices  5 - severe dilatation of ureter and pelvicalyceal system, loss of fornices
47
Further testing of vesicoureteric reflux?
- Mercapto acetyl tri-glycine reflux test (MAG3) o Injection of special dye is given and pictures taken when passing urine - Dimercapto succinic acid (DMSA) to assess kidneys
48
Management of vesicoureteric reflux - general measures?
o Ensure good fluid intake o Pass urine regularly (women after sexual intercourse) o Avoid constipation
49
Management of vesicoureteric reflux - medication?
o Low-dose prophylactic antibiotics at night |  Trimethoprim/Nitrofurantoin/Amoxcillin
50
Management of vesicoureteric reflux - surgery?
o Cystoscopy and injection of Deflux | o Open/Keyhole ureteric re-implantation
51
Complications of vesicoureteric reflux?
- Renal scarring - Recurrent UTIs - Acute pyelonephritis
52
Definition of glomerulonephritis?
- Increased glomerular cellularity restricts glomerular blood flow and therefore filtration is decreased - Leads to: o Decreased urine output and volume overload o Hypertension o Oedema o Haematuria and proteinuria
53
Epidemiology of glomerulonephritis?
- Peak age 7 years
54
Aetiology of nephritic syndrome - primary causes?
IgA Nephropathy o Visible haematuria o Most common glomerulonephritis Mesangiocapillary glomerulonephritis o Episodes of macroscopic haematuria, commonly associated with URTIs
55
Aetiology of nephritic syndrome - secondary causes?
Post-infectious (streptococcal most common, staph aureus) o Usually presents 7-21 days to streptococcal throat infection o Cola-coloured urine o High anti-DNAse Vasculitis (HSP, SLE, Wegeners granulomatosis) o HSP is vasculitis disease, see HSP o SLE mainly affect adolescent girls and presents with multiple antibodies and haematuria/proteinuria SLE Goodpasture syndrome o Anti-GBM positive o Auto-antibodies to type 1 collagen – renal and lung disease
56
Aetiology of nephrotic syndrome - primary causes?
Minimal change disease – 85% in children o Idiopathic, NSAIDs, Hodgkin’s lymphoma o Biopsy – normal under light microscopy o Steroids usual course of treatment Focal segmental glomerulonephritis (FSGN) – most common in adults o Segmental areas of mesangial collapse and sclerosis o Due idiopathic, HIV, SCD, Alport’s, obesity, reflux nephropathy Membranous nephropathy – common in older adults o Due to – malignancy, hepatitis B, gold, penicillamine, NSAIDs, thyroid, SLE o Thickened GBM Membranoproliferative glomerulonephritis
57
Aetiology of nephrotic syndrome - secondary causes?
* Infection – HIV, HepB/C, syphilis, malaria * SLE, HSP, Lupus * Diabetes – MC secondary cause * Alport’s syndrome * Malignancies * Toxins (snake bites, bee stings) and heavy metals
58
Symptoms of nephritic syndrome?
o Haematuria, raised BP, oliguria, reduced EGFR
59
Symptoms of nephrotic syndrome?
o Proteinuria, oedema, hypoalbuminaemia
60
Symptoms of uraemia?
o Malaise, anorexia, fever
61
Investigations in glomerulonephritis - what bloods to do to find cause??
o FBC, CRP, U&Es (creatinine, K, bicarbonate, calcium, phosphate, albumin) o Complement (low C3, normal C4) o ANA and anti-DNA antibodies (SLE suspected), Anti-GBM (Goodpastures), ANCA (if vasculitis suspected – Wegeners, polyangiitis) o Blood cultures o Glucose o Viral Serology (HepB/HepC)
62
Investigations in glomerulonephritis - other investigations?
Mid-stream urine M, C & S o Count RBCs, WBCs, hyaline, granular casts, red cell casts means glomerular bleeding in post-infectious glomerulonephritis o Urine culture and specific gravity Urine dipstick Urine PCR Renal US Renal biopsy
63
Management of glomerulonephritis?
Early referral to nephrologist Supportive treatment o Attention to fluid balance o Keep BP <130/80 or <125/75 if proteinuria >1g/d  ACEi/ARB – useful as reduce proteinuria and preserve renal function o Treat Oedema  Loop diuretics Nitroprusside for encephalopathy HSP and IgA nephropathy require long term follow-up SLE needs immunosupression
64
What is normal daily urine protein excretion in a day?
- Average daily urine protein excretion in adults is 80mg/day - Normal <150mg/day
65
Definition of orthostatic proteinuria?
o Normal urinary protein excretion during night but increased excretion during the day, associated with activity and upright posture o Due to increased renal dynamics o Mostly albumin
66
Epidemiology of orthostatic proteinuria?
- Most common in children and young adults, males more | - 22% of school males
67
Symptoms of orthostatic proteinuria?
- Transient symptoms – recent strenuous exercise
68
Other causes of proteinuria?
o Physical Exercise, fever, pregnancy, UTI, Nephrotic syndrome, renal tubular disease, CKD o Nutcracker Phenomenon – compression of left renal vein between aorta and superior mesenteric artery
69
Investigations of orthostatic proteinuria?
- Urinalysis - Bloods - Urine ACR/PCR EMU (first-void) & random sample in day - 24-hour urine collection
70
Investigations of orthostatic proteinuria -urinalysis findings?
o Positive protein dipstick during day o Negative EMU protein sample o Exclude UTI, diabetes
71
Investigations of orthostatic proteinuria -bloods findings?
o U&Es normal | o Glucose normal
72
Investigations of orthostatic proteinuria -urine ACR/PCR findings?
o Absence of proteinuria in morning sample and presence in daytime confirms orthostatic proteinuria
73
Investigations of orthostatic proteinuria -24-hour urine collection findings?
Protein, creatinine clearance – split into day and night collections
74
Investigations of orthostatic proteinuria -diagnosing nutcracker phenomenon?
o US KUB normal | o CT
75
Management of orthostatic proteinuria?
- Rule out other causes – may require referral to nephrologist - No specific treatment – may persist but no clinical significance

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