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Stage 3 > Nephrology: ADPKD, HUS, UTI/pyelonephritis, > Flashcards

Nephrology: ADPKD, HUS, UTI/pyelonephritis, Flashcards

1
Q

What is the most common genetic kidney disease in adults?

A

Autosomal dominant polycystic kidney disease (ADPKD) - hereditary disorder where many cysts form in both kidneys

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2
Q

What are the two mutations associated with ADPKD?

A

1) PKD1 gene (polycystin-1) on chromosome 16 (85%) - more severe disease
2) PKD2 gene (polycystin-2) on chromsome 4 (15%)

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3
Q

What are the renal presentations of ADPKD?

A

1) Flank + haematuria = cyst rupture
2) Flank pain + fever + urinary symptoms = cyst infection
3) Hypertension
4) Renal failure - slowly progressive CKD

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4
Q

How does cyst rupture in ADPKD present?

A

Flank pain + haematuria

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5
Q

How does cyst infection in ADPKD present?

A

Flank pain + fever + urinary symptoms

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6
Q

What does ADPKD eventually result in?

A

Renal failure (slowly progressive CKD)

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7
Q

What are the extra-renal presentations of ADPKD?

A

1) Extra-renal cysts e.g. liver, pancreas, spleen
2) Intracranial berry aneurysms commonly at the junction of the anterior communicating artery and anterior cerebral artery
3) Mitral valve prolapse, aortic regurgitation
4) Diverticular disease

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8
Q

What are the GI extra-renal presentations of ADPKD?

A

1) Extra-renal cysts e.g. liver, pancreas, spleen
2) Diverticular disease
3) Hernias

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9
Q

What is the neurological/neurovascular extra-renal presentation of ADPKD?

A

Intracranial berry aneurysms commonly at the junction of the anterior communicating artery and anterior cerebral artery - resulting SAH?

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10
Q

What are the cardiac extra-renal manifestations of ADPKD?

A

1) Mitral valve prolapse
2) Aortic regurgitation
(Valvular regurgitation)

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11
Q

What are the potential complications of ADPKD?

A

1) Cyst rupture
2) Cyst infection
3) CKD
4) SAH due to aneurysm
5) Intracerebral haemorrhage due to hypertension

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12
Q

What is the first line imaging investigation for ADPKD?

A

Ultrasound (15-39 years: >3 renal cysts, 40 - 59 years: >2 renal cysts bilaterally, >60 years: >4 renal cysts bilaterally)
- CT and MRI can be used to determine the extent of cystic disease

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13
Q

What investigation can be done for ADPKD in atypical cases?

A

Genetic testing

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14
Q

How do you manage patients with ADPKD?

A

1) Supportive management of CKD
2) Treatment of hypertension
3) Some patients will be eligible for treatment with Tolvaptan which has been shown to slow formation of cysts and decline in kidney function

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15
Q

How does ADPKD usually manifest?

A

1) Loin/abdo pain
2) Haematuria
3) Urinary frequency
4) Renal colic
5) Hypertension

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16
Q

How does renal cell carcinoma typically present?

A

1) Gross or microscopic haematuria
2) Flank pain
3) Fever of unknown origin
4) Palpable mass

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17
Q

What is the criteria for a 2ww referral for suspected bladder or renal cancer?

A

Adults > 45 years old with unexplained visible haematuria without infection

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18
Q

What is the triad of features in haemolytic uraemic syndrome?

A

Acute, fulminant disorder
1) Thrombocytopenia
2) Microangiopathic haemolytic anaemia
3) AKI
On background of diarrhoeal illness

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19
Q

In which patients does haemolytic uraemic syndrome (HUS) typically occur?

A

Children following infection typically with enterohaemorrhagic E coli O157 verotoxin from undercooked meat or petting farms

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20
Q

Which pathogen typically triggers haemolytic uraemic syndrome?

A

E coli (from undercooked meat or petting farms)

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21
Q

In which age group does haemolytic uraemic syndrome typically occur?

A

Children

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22
Q

What causes haemolytic uraemic syndrome?

A

The verotoxin/Shiga toxin from enterohaemorrhagic E coli O157 causes endothelial cell damage and thrombus formation within the renal arteries

23
Q

What are the symptoms of haemolytic uraemic syndrome?

A

1) Bloody diarrhoea
2) Vomiting
3) Abdominal pain
4) Low-grade pyrexia
5) Oliguria/anuria
6) Haematuria

24
Q

What are risk factors for haemolytic uraemic syndrome?

A

Eating undercooked meat or recent farm visits

25
Q

What are the signs of haemolytic uraemic syndrome?

A

1) Pale (secondary to anaemia) or jaundice (secondary to haemolysis)
2) Bruising (secondary to thrombocytopenia)
3) Abdominal tenderness

26
Q

What is the initial bedside test for haemolytic uraemic syndrome?

A

Urine dipstick - may show haematuria/proteinuria (non-nephrotic range)

27
Q

What would blood tests show in haemolytic uraemic syndrome?

A

1) FBC - normocytic anaemia (secondary to haemolysis), thrombocytopenia, raised neutrophil count
2) U&E - raised urea and creatinine
3) Clotting - normal
4) Blood film - reticulocytes (secondary to haemolysis) and schistocytes (fragmented red cells)

28
Q

What additional investigation would you do in haemolytic uraemic syndrome?

A

Stool culture for E coli

29
Q

How do you manage haemolytic uraemic syndrome?

A

1) Conservatively with supportive measures e.g. fluids for hypovolaemia
2) Haemodialysis - if necessary for severe renal impairment

30
Q

What is important NOT to do in haemolytic uraemic syndrome?

A

It is important to NOT administer antibiotics - this can induce expression and increase release of the verotoxin

31
Q

What are other potential infective causes of haemolytic uraemic syndrome?

A

Shigella (shiga toxin) and Strep pneumoniae

32
Q

What is a lower UTI?

A

Cystitis (infection of the bladder)

33
Q

What causes UTIs?

A

Transurethral ascend of colonic commensals, most commonly E coli - UTIs happen commonly in women, one of the greatest risk factors is sexual activities which move flora (E.coli) in the perineum to the urinary tract

34
Q

What are the clinical features of cystitis (UTI)?

A

1) Urinary frequency
2) Dysuria
3) Urgency
4) Foul-smelling urine
5) Suprapubic pain
6) Suprapubic tenderness on examination or normal examination

35
Q

What features of pyelonephritis are different from UTI?

A

1) Symptoms - vomiting, fever, loin pain
2) Examination - pyrexia, renal angle tenderness

36
Q

What is the first line investigation for UTI?

A

Urine dipstick

37
Q

What findings are positive on urine dipstick in UTI?

A

Leucocytes and nitrites

38
Q

What is the most common cause of UTI?

A

E coli

39
Q

In which patients with UTI would you send a mid-stream urine sample for MC&S?

A

1) Children
2) Men
3) Pregnant women
In uncomplicated cystitis no further investigations are required

40
Q

What is first line management for uncomplicated UTIs?

A

1) 3 day course of oral trimethoprim or nitrofurantoin
2) Advise patient on conservative measures to reduce the risk of further infection e.g. regular fluid intake, post-coital voiding

41
Q

Which UTI antibiotic treatment is contraindicated in pregnant women in the first trimester?

A

Trimethoprim

42
Q

What is pyelonephritis?

A

UTI affecting the kidneys/renal pelvis

43
Q

What causes pyelonephritis?

A

Trans-urethral ascent of colonic commensals, most commonly E. coli

44
Q

What is the most common cause of pyelonephritis?

A

E coli

45
Q

What are the clinical features of pyelonephritis?

A

1) Fever/rigors
2) Malaise
3) Loin/flank pain
4) Vomiting
5) Clinical examination reveals fever, loin/flank tenderness, renal angle tenderness

46
Q

What is the difference in cystitis vs pyelonephritis?

A

In cystitis the patient will rarely be pyrexial or have loin/flank tenderness - abnormal vital signs are more indicative of pyelonephritis

47
Q

What bedside investigation do you do for pyelonephritis and what does it show?

A

Urine dipstick - positive for leucocytes and nitrites

48
Q

How do you manage pyelonephritis?

A

1) Hospital admission
2) IV antibiotics - broad spectrum cephalosporin/quinolone e.g. ciprofloxacin/gentamicin
As the infection tracts up from the urethra to the ureters and kidneys, the infection becomes more systemic and more likely to develop into sepsis, hence a more broad-spectrum antibiotic is needed to treat the infection for a longer period

49
Q

What investigations do you do for pyelonephritis after admitting the patient?

A

1) Bloods - FBC (raised WCC), U&E (to check for renal impairment) and blood cultures
2) Urine MSU for MC&S
3) Renal US - to look for hydronephrosis if severe infection occurs with AKI

50
Q

Which imaging modality can you use to investigate severe pyelonephritis?

A

Renal US

51
Q

What is second line antibiotic treatment for UTIs?

A

Amoxicillin 500mg TDS for 7 days

52
Q

Which UTI antibiotic treatment is contraindicated in pregnant women in the first trimester?

A

Nitrofurantoin

53
Q

What antibiotic treatment is used in UTIs for pregnant women?

A

Amoxicillin 500mg 3 times daily for 7 days

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