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Renal > Inherited Disorders of the Kidney > Flashcards

Inherited Disorders of the Kidney Flashcards

1
Q

ADPKD extra-renal features?

A 
Hepatic cysts
INTRA CRANIAL ANEURYSMS
Cardiac disease
Diverticular disease
Hernias
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2
Q

Diagnosis of ADPKD

A

Ultrasound-presence of multiple bilateral cysts
Renal enlargement
CT/MRI-when unclear on USS

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3
Q

How do you differentiate between autosomal dominant and autosomal recessive in children?

A

USS suggestion of Congenital Hepatic Fibrosis suggests recessive disease.

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4
Q

USS showing congenital hepatic fibrosis in children?

A

more likely to be RECESSIVE disease

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5
Q

Young children and constantly associated with hepatic lesions.

A

Autosomal recessive kidney disease

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6
Q

Chromosomes in ADPKD?

A

Chromosome 16
Chromosome 4

(chromo 16 has higher risk of earlier renal failure)

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7
Q

Cysts appearing from the COLLECTING DUCT SYSTEM?

A

Autosomal recessive kidney disease

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8
Q

Epithelial lined cysts arising from a small population of renal tubules?

A

Autosomal DOMINANT kidney disease

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9
Q

Effect of liver cysts?

A

(present 10 years after renal cysts)
Liver function generally well preserved
Can result in SOB, pain, ankle swelling

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10
Q

Intra-cranial aneurysms affect who?

A

Tend to be seen in clusters of family members so screen!

ADPKD

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11
Q

Which type of ADPKD patients are most likely to suffer from diverticular disease?

A

Those on dialysis

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12
Q

2 serious GI side effects of ADPKD

A

Diverticulitis

Colonic perforation

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13
Q

Increased chance of which type of hernia with ADPKD?

A

Abdominal/inguinal

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14
Q

Cardiac disease seen in ADPKD?

A

mitral/aortic valve prolapse

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15
Q

Gene involved in childrens autosomsal recessive kidney disease?

A

Chromosome 6

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16
Q

Renal involvement in ARPKD

A

Usually bilateral and symmetrical

17
Q

Clinical presentation ARPKD

A

Hypertension
Recurrent Urinary Tract Infections

Slow Decline in GFR -less than 1/3 reach dialysis

18
Q

Disorder of type IV collagen matrix

A

Alport syndrome

hereditary nephritis

19
Q

Alport syndrome method of inheritance

A

X-linked

20
Q

A rare condition associated by a hereditary nephritis with haematuria, proteinuria, progressive kidney disease and HIGH-FREQUENCY NERVE DEAFNESS

A

Aport syndrome

  • Hameaturia is characteristic feature
  • Proteinuria is seen later but confers bad prognosis

Extra-renal features:
Sensorineural deafness
OCular defects - anterior lenticonus

21
Q

What should you suspect if haematuria +/- hearing loss?

A

Alport syndrome

22
Q

Biopsy characteristic feature of alport syndrome?

A

Variable thickness GM

23
Q

X-linked lysosomal storage disease?

A

Anderson Fabrys disease

24
Q

Inborn error of Glycosphingolipid metabolism (deficiency of a-galactosidase A)

A

Anderson fabry’s disease

25
Q

Which organs are affected in Anderson Fabry’s disease?

A

Kidneys, liver, lungs, erythrocytes

-Most common renal manifestation is proteinuria and progressive CKD

26
Q

Zebra or myeloid bodies?

A

Anderson Fabry’s disease

27
Q

Diagnosis
Plasma /Leukocyte a-GAL activity
Renal Biopsy
Skin Biopsy

Clinical Features
Renal failure

Cutaneous-Angiokeratomas

Cardiac-cardiomyopathy,valvular
disease

Neurological- stroke, acroparaesthesia

Psychiatric

A

Anderson-Fabry’s disease

28
Q

Angiokeratomas are associated with which kidney disease?

A

Anderson-Fabrys disease

29
Q

Lamellar inclusions within lysosomes found in which kidney disease?

A

Fabrys disease

30
Q

Anderson fabry’s disease treatment?

A

Enzyme replacement-Fabryzyme

Management of Complications

31
Q

What is medullary cystic kidney?

A

Autosomal dominant

  • morphologically abnormal renal tubules leading to fibrosis
  • kidneys may be smaller
  • cysts are in the corticomedullary junction/medulla, not essential for diagnosis
32
Q

Average age for medullary cystic disease presentation?

A

28 years

33
Q

Treatment for medullary cystic kidney disease?

A

Renal transplantation

34
Q 
Uncommon
Sporadic Inheritance
Dilatation of collecting ducts
Severe cases- medullary area appears 				like a sponge
Cysts have calculi

-Cysts form in collecting ducts and keep urine from flowing freely through the tubules

A

Medullary sponge kidney

35
Q

How would you diagnose medullary sponge kidney?

A

Diagnose by excretion urography

36
Q

Looks like a bag of grapes on x-ray

A

Medullary sponge kidney

Renal (44 decks)

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