Rare and Unusual Kidney Diseases

Question 1

A 35 year old male presents with CKD (or Fanconi syndrome) and is originally from Croatia (or around the River Danube). What is the most likely diagnosis?

Answer 1

• Balkan Endemic Nephropathy
• Cause has not been established but may be secondary to aristocholic acid, ochratoxin A, or heavy metals such as Cadmium, Lead, or Selenium
• Similar to Chinese Herb Nephropathy
• Associated with Urothelial tumours

Question 2

What kidney disease is caused by Hanta virus?

Answer 2

• Nephropathia endemica (an ATIN)

Question 3

What is the best initial test for Renal TB?

Answer 3

• Urine mycobacteria (several samples as shedding is intermittent) OR a urine TB PCR (if available)

Question 4

What is Malakoplakia?

Answer 4

• Granulomatous inflammation of the urinary tract
• Characterised by the presence of Von Hansemann cells (histiocytes) that contain Michaelis Gutmann bodies (intracellular inclusions of Ca Phosphate and Iron)
• Associated with nephromegaly
• Treatment with antibiotics, bethenachol, and vitamin C

Question 5

Causes of nephromegaly?

Answer 5

• Infiltrative diseases
• Xanthogranulomatous pyelonephritis
• Acute bacterial pyelonephritis
• Renal Cell Carcinoma
• Polycystic kidney disease

Question 6

Painful, pruritic skin vesicles on hands and forearms in a patient with ESKD (and Hep C/Alcoholism/Iron overload/Diabetes)

Answer 6

• Porphyria Cutanea Tarda
• Accumulation of porphyrins as opposed to an enzymatic defect (that typically causes the disease)
• Treatment is to avoid alcohol/treat Hep C/Fe overload