Inherited Disorders of the Kidney

Question 1

ADPKD extra-renal features?

Answer 1

Hepatic cysts
INTRA CRANIAL ANEURYSMS
Cardiac disease
Diverticular disease
Hernias

Question 2

Diagnosis of ADPKD

Answer 2

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

Question 3

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

Answer 3

USS suggestion of Congenital Hepatic Fibrosis suggests recessive disease.

Question 4

USS showing congenital hepatic fibrosis in children?

Answer 4

more likely to be RECESSIVE disease

Question 5

Young children and constantly associated with hepatic lesions.

Answer 5

Autosomal recessive kidney disease

Question 6

Chromosomes in ADPKD?

Answer 6

Chromosome 16
Chromosome 4

(chromo 16 has higher risk of earlier renal failure)

Question 7

Cysts appearing from the COLLECTING DUCT SYSTEM?

Answer 7

Autosomal recessive kidney disease

Question 8

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

Answer 8

Autosomal DOMINANT kidney disease

Question 9

Effect of liver cysts?

Answer 9

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

Question 10

Intra-cranial aneurysms affect who?

Answer 10

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

ADPKD

Question 11

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

Answer 11

Those on dialysis

Question 12

2 serious GI side effects of ADPKD

Answer 12

Diverticulitis

Colonic perforation

Question 13

Increased chance of which type of hernia with ADPKD?

Answer 13

Abdominal/inguinal

Question 14

Cardiac disease seen in ADPKD?

Answer 14

mitral/aortic valve prolapse

Question 15

Gene involved in childrens autosomsal recessive kidney disease?

Answer 15

Chromosome 6

Question 16

Renal involvement in ARPKD

Answer 16

Usually bilateral and symmetrical

Question 17

Clinical presentation ARPKD

Answer 17

Hypertension
Recurrent Urinary Tract Infections

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

Question 18

Disorder of type IV collagen matrix

Answer 18

Alport syndrome

hereditary nephritis

Question 19

Alport syndrome method of inheritance

Answer 19

X-linked

Question 20

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

Answer 20

Aport syndrome

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

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

Question 21

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

Answer 21

Alport syndrome

Question 22

Biopsy characteristic feature of alport syndrome?

Answer 22

Variable thickness GM

Question 23

X-linked lysosomal storage disease?

Answer 23

Anderson Fabrys disease

Question 24

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

Answer 24

Anderson fabry’s disease

Question 25

Which organs are affected in Anderson Fabry's disease?

Answer 25

Kidneys, liver, lungs, erythrocytes -Most common renal manifestation is proteinuria and progressive CKD

Question 26

Zebra or myeloid bodies?

Answer 26

Anderson Fabry's disease

Question 27

Diagnosis Plasma /Leukocyte a-GAL activity Renal Biopsy Skin Biopsy Clinical Features Renal failure Cutaneous-Angiokeratomas Cardiac-cardiomyopathy,valvular disease Neurological- stroke, acroparaesthesia Psychiatric

Answer 27

Anderson-Fabry's disease

Question 28

Angiokeratomas are associated with which kidney disease?

Answer 28

Anderson-Fabrys disease

Question 29

Lamellar inclusions within lysosomes found in which kidney disease?

Answer 29

Fabrys disease

Question 30

Anderson fabry's disease treatment?

Answer 30

Enzyme replacement-Fabryzyme Management of Complications

Question 31

What is medullary cystic kidney?

Answer 31

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

Question 32

Average age for medullary cystic disease presentation?

Answer 32

28 years

Question 33

Treatment for medullary cystic kidney disease?

Answer 33

Renal transplantation

Question 34

``` 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

Answer 34

Medullary sponge kidney

Question 35

How would you diagnose medullary sponge kidney?

Answer 35

Diagnose by excretion urography

Question 36

Looks like a bag of grapes on x-ray

Answer 36

Medullary sponge kidney