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Flashcards in Inherited Diseases of the Kidney Deck (29):
1

What are the 2 forms of inheritance of polycystic kidney disease?

Autosomal recessive
Autosomal dominant

2

Which is more common, ADPKD or ARPKD?

ADPKD

3

What are the 2 gene mutations and the chromosomes that they appear on that can lead to ADPKD? Which is most common?

PKD gene 1 - Chr 16 - most common 85%
PKD gene 2 - Chr 4 - 15%

4

Which PKD1 or PKD2 patients develop ESRF earlier?

PKD1

5

What pathologies occur in ADPKD on the kidneys?

Massive cyst enlargement
Massive kidneys
Epithelial lined cysts arise from a small population of renal tubules
Benign adenomas

6

How des ADPKD present?

Reduced urine concentrating ability
Chronic pain
HTN
Haematuria
cyst infection
Renal failure

7

What are the extra-renal manifestations of ADPKD and which is most common?

Hepatic cysts - most common
Intra-cranial aneurysm - uncommon
Cardiac disease
Diverticular disease
Hernias

8

What are the 1st and 2nd line radiological techniques for diagnosing ADPKD?

1st - US
2nd - Ct or MRI when US is unclear

9

ADPKD in children presents when?

In utero or first year of life

10

What suggests ARPKD rather than ADPKD in children?

US suggestion of congenita hepatic fibrosis suggests ARPKD

11

How is ADPKD managed?

HTN rigorously controlled
Hydration
Proteinuria reduction
Dialysis
Renal transplant

12

What are the complications of ADPKD?

Cyst haemorrhage
Cyst infection
Renal failure

13

ARPKD is always associated with what?

hepatic lesions

14

What gene is responsible for ARPKD and where is it?

PKHD1 on Chr 6

15

How does ARPKD present histologically?

Cysts are seen appearing from the collecting duct system

16

How does ARPKD present clinically?

Varies
Kidneys always palpable
HTN
Recurrent UTIs
Slow delcine in GFR

17

What is the other term for Alport's Syndrome?

Hereditary Nephritis

18

How is Alport's syndrome inherited?

X-linked inheritance

19

What causes Alport's syndrome?

Mutation in the COL4A5 gene eads to deficient collagenous matrix

20

What is the characteristic feature of Alport's syndrome and how else may it present?

Haematuria - characteristic feature
Proteinuria - seen later but confers bad prognosis
SNHL
Ocular defects
Leiomyomatosis of oesophagus/ genitalia - rare

21

On renal biopsy what is seen in Alport's syndrome?

variable thickness GBM and splitting of the lamina densa

22

Anderson Fabry's disease is what?

Inborn error of glycosphingolipid metabolism (deficiency of a-galactosidase A)
X-linked lysosomal storage disease

23

Where does Anderson Fabry's disease present?

Kidneys
Liver
Lungs
Erythrocytes

24

How is a diagnosis of Anderson Fabry's disease made?

Plasma/ leukocyte a-GAL activity
Renal biopsy - concentric lamellar inclusion within lysosomes
Skin biopsy

25

What is the skin condition seen in Anderson Fabry's disease?

Cutaneous-Angiokeratoma's

26

How is Medullary cystic kidney inherited?

Autosomal dominant inheritance

27

Macroscopically describe Medullary cystic kidney?

Cortex and edulla are both shrunken
Presence of irregularly distributed cysts of variable size at the corticomedullary junction and in the outer medulla

28

Treatment mechanism for meduallary cystic kidney?

Renal transplant

29

What is Medullary sponge kidney?

Dilation of the collecting ducts whihc can lead in severe cases to the meduallary appearing like a sponge
Uncommon
Sporadic inheritance