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2 RENAL > Inherited Renal Disorders > Flashcards

Inherited Renal Disorders Flashcards

1
Q

what are the 2 types of polycystic kidney disease

A

autosomal dominant (common)

autosomalrecessive

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2
Q

what us autosomal dominant polycystic kidney disease

A

most frequent life threatening hereditary disease causing massive cyst enlargement in the kidneys

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3
Q

what mutations cause ADPKD

A

PKD1 gene - most common

PKD2 gene

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4
Q

which ADPKD mutation causes end stage renal failure at an earlier stage

A

PKD1

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5
Q

what are the clinical features of ADPKD

A

Reduced urine concentration ability

Chronic pain

Hypertension

Haematuria (cyst rupture, cystitis, stones)

Cyst infection

Renal failure

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6
Q

what is the most common extra-renal manifestation of ADPKD

A

Hepatic cysts

present 10 years after renal cysts

liver function tends to be preserved but results in:

  • SOB
  • Pain
  • Ankle swelling
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7
Q

what are some other common extra-renal manifestation of ADPKD

A

Intra-cranial aneurysms
Cardiac disease
Diverticular disease
Hernias

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8
Q

how do you diagnose ADPKD

A

Radiology

  • US - shows multiple bilateral cysts
  • Renal enlargement
  • CT/MRI when unclear on USS

Genetic

  • linkage analysis
  • mutation analysis
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9
Q

how do you differentiate ADPKD from ARPKD in children

A

USS suggestion of Congenital Hepatic Fibrosis suggests recessive disease

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10
Q

when can ADPKD present in children

A

in uteri or first year of life (early onset)

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11
Q

what percentage risk is there of an individual with ADPKD passing it on to their child

A

50%

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12
Q

management for ADPKD

A

Hypertension (rigorous control)
Hydration
Proteinuria reduction

Tolvaptan - reduces cyst volume and progression

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13
Q

what is autosomal recessive polycystic kidney disease

A

disease appearing in young children with an association with HEPATIC LESIONS

mutation in PKDH1 gene

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14
Q

where are histological cysts seen appearing from in ARPKD

A

The collecting duct system

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15
Q

what is the clinical presentation of ARPKD

A

Hypertension
palpable kidney
recurrent UTI
Slow decline in GFR - less than 1/3 reach dialysis

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16
Q

prognosis of ARPKD

A

Infants who survive the neonatal period have a mortality rate of 9%-24% the the first year of life

children who survive the first year have an 80% probably of survival beyond 15 years

17
Q

what is Alpert’s syndrome

A

an x-linked inhibitive disorder of type IV collagen matrix

mutation in the COL4A5 gene

18
Q

how does Alpert’s present

A

Haematuria
Proteinuria seen later but confers bad prognosis
Extra renal
-sensorineural deafness
-ocular defects - anterior lenticonus
-leiomyomatosis of oesophagus/genitalia (rare)

19
Q

how do you diagnose alports

A

suspect if haematuia + hearing loss

renal biopsy
-variable thickness GBM is a characteristic feature

20
Q

Treatment for Alports

A

Standard aggressive treatment of BP and proteinuria

dialysis/transplantation

21
Q

what is Anderson Fabrys disease

A

Inborn error of glycosphingolipid metabolism
(deficiency of a-galactosidaseA)

x linked disease of lysosomal storage

v rare

22
Q

Clinical features of Anderson fabry’s disease

A 
Renal failure 
Cutaneous -angiokeratomas 
Cardiac -cardiomyopathy, valvular disease 
neurological - stroke, acroparesthesia 
psychiatric
23
Q

how do you diagnose Anderson Fabrys disease

A

Plasma/leukocye a-GAL activity
renal biopsy
skin biopsy

24
Q

treatment for Anderson Fabrys disease

A

enzyme replacement (fabryzyme)

management of complications

25
Q

what is Medullary Cystic Kidney

A

Rare inherited cystic disease (autosomal dominant inheritance)

abnormal renal tubules leading to fibrosis

26
Q

characteristics of Medullary cystic disease

A

Affected kidneys are normal/small

cysts in the corticomedullary junction or medulla

cortex and medulla both strange

irregularly distributed cysts of variable size

presents at average age of 28

27
Q

how do you diagnose medullary cystic kidney

A

Diagnosis - family history, CT scan

28
Q

treatment for medullary cystic kidney

A

renal transplantation

29
Q

what is a medullary sponge kidney

A

sporadic inherited disease that causes dilation of collecting ducts

in severe cases the medulla appear like a sponge

the cysts have calculi in them

30
Q

how do you diagnose medullary sponge kidney

A

by excretion urography 0 to demarcate calculi

2 RENAL (20 decks)

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