Renal

Question 1

What are some key things to look for in Von Hippel Lindau Syndrome?
• how is it inherited?

Answer 1

Inheritance:
• Chromosome 3, tumor suppressor gene, AUTOSOMAL DOMINANT (remember VHL suppresses HIF-1alpha in the absence of hypoxia)

COMBO:
• Abnormal Vessel Growth (hemangiomas in retina, brain, spinal chord)****
•Cysts in Kidney, and Pancreas
• Pheochromocytomas
• Islet Tumors
• Clear Cell Tumors of the Kidney (renal cell carcinoma)***

***most common manifestations

Question 2

What are two risk factors for the development of Goodpasture’s syndrome?

Answer 2

1. Exposure to Hydrocarbon Solvents
2. Smoking

Question 3

How is does minimal change disease present?

• LM, IF, EM changes on biospy?
• Treatment?

Answer 3

Most common nephrOtic syndrome in children and typically follows an infection (or sometimes follows lymphoma)

LM changes: No Changes
EM changes: Podocyte Effacement
IF changes: None

Treatment: patients respond good to STERIODS

Question 4

• *Hereditary Cystinuria**
• Etiology/Inheritance?
• Key Findings?
• Treatment?

Answer 4

Hereditary Cystinuria (SIXtine - for stones)

Etiology:
- Autosomal Recessive Defect in amino acid transporter in the PCT leading to inability to reabsorb COLA (Cystine, Ornithine, Lysine, Arginine)

Key Findings:

• Hexagonal Cystine Stones in kidney
• XS urinary COLA

Treatment:

• Potassium Citrate, Acetazolamide (raise urinary pH)
• Penicillamine (chelates)
• Hydration

Question 5

Calium Stones

• Precipitates With
• X-ray Findings
• Crystal

Answer 5

Caclium Precipitates with:
Ca Oxalate (80% of Ca stones)
- Radiopaque
- Shaped like evelope/dumbell

Ca Phosphate

• Radiopaque
• Wedge-Shaped Prism

Question 6

What medication is useful in treating Calcium phosphate or oxalate stones?

Answer 6

Thiazide

Question 7

Ammonium magnesium phosphate

• Prepitates with?
• X-ray findings?
• Crystal?

Answer 7

Ammionium Magnesium Phosphate
Preciptates at High pH
Radiopaque
Coffin Lids

Question 8

Uric Acid

• Precipitates with?
• X-ray findings?
• Urine Cystal?

Answer 8

Uric Acid

• Precipitates at low pH
• RadiolUcent
• Rhomboid or rosettes

Question 9

Cystine

• Precipitates with?
• X-ray?
• Urine Cystal?

Answer 9

Cystine

• Precipitates at low pH
• Radiolucent
• Hexagonal