Brainscape's Knowledge GenomeTM

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


See full index

Renal > Inherited Disorders of the Kidney > Flashcards

Inherited Disorders of the Kidney Flashcards

1
Q

What are the two types of PKD?

A

autosomal recessive and autosomal dominant

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

Which form of PKD is more common?

A

autosomal dominant

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

Where is the PKD1 gene mutation?

A

chromosome 16

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

Where is the PKD2 gene mutation?

A

chromosome 4

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

Whwat is the most common genetic mutation with ADPKD?

A

PKD1

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

What is the significance of PKD1 compared with PKD2?

A

PKD1 patients develop ESRD at an earlier stage

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

What is the pathology of ADPKD?

A

epithelial lined cysts arise from the renal tubules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the clinical features of ADPKD?

A

reduced urine concentration ability; chronic pain; hypertension; haematuria; cyst infection; renal failure

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

What are the causes of haematuria with ADPKD?

A

cyst rupture, cystitis and stones

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

What are the extra renal manifesations of ADPKD?

A

hepatic cysts and intracranial aneurysms; cardiac disease; diverticular disease; hernias

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

What symptoms can hepatic cysts give rise to?

A

SOB; pain; ankle swelling

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

What are hte forms of cardiac disease seen with ADPKD?

A

mitral/aortic valve prolapse; valvular disease

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

What type of hernia are common with ADPKD?

A

abdominal and inguinal

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

How is ADPKD diagnosed?

A

USS- renal enlargemnet and presence of mulitple bilateral cysts

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

What imaging can be done if diagnosis is not clear with USS for ADPKD?

A

CT/ MRI

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

How can ADPKD in children be differentiated from ARPKD?

A

ARPKD has congenital hepatic fibrosis whereas ADPKD doesn’t

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the management for ADPKD?

A

hypertension; hydration; proteinuria reduction; cyst haemorrhage and infection; tolvaptan

18
Q

What is the purpose of tolvaptan?

A

reduce cyst volume and progression

19
Q

What is tolvaptan?

A

vasopressin receptor antagonist

20
Q

Where is the gene mutation for ARPKD?

A

chromosome 6

21
Q

Where are the cysts found in ARPKD?

A

collecting duct system

22
Q

What are the signs of ARPKD?

A

hypertension; recurrent UTIs; palapble kidneys; portal hypertension

23
Q

What is the inheritance of Alport’s syndrome?

A

X-linked

24
Q

What is the pathology of Alport’s syndrome?

A

disorder of type 4 collagen matrix

25
Q

What are features of Alport’s ?

A

haematuria; SNHL; ocular-anterior lenticonus; leiomyomatosis or oesophagus/genitalia

26
Q

What is the feature seen onrenal biopsy with Alport’s?

A

variable thickness GBM

27
Q

What is the treatment for Alport’s?

A

nothing specific- tx of BP; proteinuria; dialysis/ transplantation

28
Q

What is the problem in Anderson Fabrys disease?

A

inborn error of glycosphingolipid metabolism- lack of alpha galactosidase

29
Q

What is the genetic mutation in anderson Fabrys disease?

A

x-linked

30
Q

What organs does Anderson Fabrys affect?

A

kidneys; liver; lungs; erythrocytes

31
Q

What are hte clinical features of Anderson Fabrys disease?

A

renal failure; cutaneous angiokeratomas; cardiomyopathy; valvular disease; stroke; acroparaesthesia

32
Q

How is Anderson Fabrys disease diagnosed?

A

plasma/leukcyte a-GAL actvitiy; renal biospy; skin biopsy

33
Q

What do angiokeratomas look like?

A

clusters of dark-red to blue lumps in the umbilical area

34
Q

What does a renal biopsy show with Fabry disease??

A

concentric lamellar inclusions within lysosomes

35
Q

What is the treatment for Anderson Fabrys disease?

A

enzyme replacement- fabryzyme; mx of complications

36
Q

What is the inheritance of medullary cystic kidney?

A

autosomal dominant

37
Q

What are the features of medullary cystic kidneys?

A

abnormal renal tubules leading to fibrosis, cysts are in the corticomedullary junction/medullar (as opposed to cortex as in ADPKD)

38
Q

What is the diagnosis of medullary cystic kidneys?

A

CT

39
Q

What is the treatmnet for medullary cystic kidney?

A

transplantation

40
Q

What is medullary sponge kidney?

A

dilatation of collectin ducts, medullary area appears like a psonge- cysts have calculi

41
Q

What is the inheritance of medullary sponge kidney?

A

sporadic

42
Q

How is medullary sponge kidney diagnosed?

A

excretion urography- to demarcate calculi

Renal (33 decks)

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