Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

dk renal > inherited kidney disease > Flashcards

inherited kidney disease Flashcards

1
Q

name the 5 main inherited kidney diseases?

A
  • polycystic kidney disease
  • Alports Syndrome
  • Anderson Fabrys Disease
  • medullary cystic kidney
  • medullary sponge kidney
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is the commonest inherited cause of E.S.R.F?

A

1) polycystic kidney disease (PKD)

2) Alports syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

ADPKD is more common that ARPKD?

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what are the genetic causes of ADPKD?

A

PKD1 mutation on Ch 16 - 85% cases, most severe, early renal failure
PKD2 mutation on Ch 4 - 15% cases, mild, late renal failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

when does ADPKD usually present?

A

middle age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

__% of PKD patients have benign adenomas, why is this important?

A

25% of PKD patients have benign adenomas - risk of malignant transformation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

symptoms of ADPKD?

A 
decreased ability to concentrate urine
loin pain
hypertension
haematuria
cyst rupture/infection/stones
renal failure
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

extra-renal manifestation of ADPKD?

A

intracranial berry aneurysms
diverticular disease
heart valve disease
abdominal/inguinal hernias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what are the hepatic manifestations of ADPKD and when do they present?

A

hepatic cysts
present 10 years after renal features present
liver function is usually preserved

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

investigation of ADPKD?

A

USS - multiple cysts/enlarged kidneys

if unclear - CT/MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

management of ADPKD?

A

manage hypertension
hydration
reduce proteinuria
Tovalptan - to reduce cyst volume and progression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

why is TOVALPTAN used in ADPKD?

A

to reduce cyst volume and progression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

who gets ARPKD?

A

children

50% may not survive 1 year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what is a hallmark feature of ARPKD?

A

congenital hepatic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

which gene is involved in ARPKD?

A

PKDH1 on Ch6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

how may ARPKC present in children?

A

hypertension
recurrent UTIs
very slow decline in GFR

17
Q

pathological features of ARPKD?

A

elongated cysts due to dilation of medullary collecting ducts

18
Q

pathological features of ADPKD?

A

epithelial lined cysts arising from the renal tubules

19
Q

what is Alports syndrome?

A

X-linked disorder of type IV collagen

20
Q

which gene is mutated in Alports syndrome?

A

COL4A5, leading to defective collagen matrix

21
Q

symptoms of Alports?

A

haematuria
proteinuria (late, bad sign)
sensorineural defects
anterior lenticonus, cateracts

22
Q

if a person presents with ___ & ___, Alports must be excluded.

A

deafness and haematuria

23
Q

characteristic hallmark feature of Alports on a renal biopsy?

A

variable thickness in glomerular basement membrane

24
Q

how is Alports treated?

A 
no specific treatment
ACEI slow progression
manage hypertension/proteinuria
dialysis
transplant
25
Q

what is andersonian Fabrys Disease?

A

X linked lysosomal storage disorder - inborn error of gylcophospholipid metabolism (deficiency of a-galactosidase A)

26
Q

characteristic hallmark of Adnersonian Fabrys disease on renal biopsy?

A

concentric lamellar inclusions within lysosomes

27
Q

a cutaneous feature of Andersonian Fabrys?

A

angiokeratomes (red blue dots around umbilicus and periphery)

28
Q

treatment for Andersonian Fabrys?

A 
enzyme replacement (Fabryzyme)
and manage complications
29
Q

what is medullary cystic kidney disease?

A

rare autosomal dominant cyctic disease

abdormal morphology of the renal tubules resulting in fibrosis

30
Q

what size are the kidneys in medullary cystic kidney disease?

A

normal - small

31
Q

presenting features of medullary cystic kidney disease?

A

presents age 20-30
flank pain
haematuria
costovertebral angle tenderness

32
Q

diagnosis and treatment of medullary cystic kidney disease?

A

Ix: Fhx, CT scan
Tx: renal transplant

33
Q

what is medullary sponge kidney disease?

A

sporadic inheritance, uncommon

dilation of collecting ducts accompanied by cysts making the medullary are appear ‘spongy’

34
Q

cysts in medullary sponge kidney disease often contain calculi?

A

true

35
Q

renal failure is common in medullary sponge kidney disease?

A

false, it is uncommon

36
Q

diagnosis of medullary sponge kidney?

A

excretion urography - to demarcate calculi

dk renal (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions