#9 Zaman - Congenital and Cystic Diseases

Question 1

You have a patient that you believe has Alport’s Syndrome. You decide to do an alpha 5 skin staining. What results will confirm the Alport’s diagnosis?

Answer 1

Negative skin staining.

Question 2

What are common symptoms of Alport’s syndrome?

Answer 2

Nephritis progressing to renal failure

Nerve deafness

Lens dislocation

Cataracts

Corneal dystrophy

Question 3

Identify the disease if any.

Answer 3

Alport’s Syndrome

Renal tubular cells appear foamy because of accumulation of fats and mucopolysaccharides.

Splitting of the basement membrane.

Basket weave

Question 4

Identify the disease if any.

Answer 4

Thin Basement Membrane Disease

Diffuse thinning of the basement membrane.

Excellent prognosis.

Question 5

Patient appears with multiple angiokeratomas over the lower portion of the body. You test for deficiency of alpha-galactosidase A to confirm what diagnosis?

Answer 5

Fabry disease

LM - shows honeycomb

EM - shows zebra bodies

Question 6

What should you as a physician be monitoring in a patient who has a horseshoe kidney?

Answer 6

Increased risk of carcinoid tumor of the kidney between 40-70 years old

Question 7

A CT is taken and the following is reported:

Presence of cartilage, undifferentiated mesenchyme, immature collecing ductules, and abnormal lobar organization.

What is your suspected diagnosis?

Answer 7

Multi-cystic renal dysplasia

Unilateral disease is characterized by a flank mass.

Renal failure may result in bilateral disease.

Question 8

Rare childhood disease in which the kidney is normal and the cysts are in the parenchyma.

Answer 8

Autosomal Recessive Polycystic KD

Question 9

Enlargement of the kidney with irregular bursts.

Common in adults.

Presents with hematuria, hypertension and protienuria.

Answer 9

Autosomal dominant polycystic KD

Question 10

If you have a patient with autosomal dominant polycystic KD what emergency event is associated with ADPKD?

Answer 10

CNS Berry aneurysms