Renal Disorder-6

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Topic: Renal disorder-6

Posted on: November 24, 2016

Patient no 10

(Recent Updates)
An 18 years olds male presents with acute gouty arthritis and renal functional
impairment (see below). He has strong family history of gout and Chronic Kidney
Disease starting during teen age. His lab investigations are as following:

• Uric Acid: 678 μmol/L
• Creatinine: 345 μmol/L
• Urine albumin: 2.1 mg/mol of creatinine (<3)
• Urine Microscopy: negative
• Fractional Excretion of Uric Acid: 3.2 % (ref values:5-11%)
• Uromodulin gene (UMOD) mutation: Positive

a. What is the most probable diagnosis?

b. What is the older name of Uromodulin

a. Uromodulin Kidney Disease (UKD)

b. Tom-Horsefall protein

Ref No 10a
Autosomal dominant tubulointerstitial kidney disease
(medullary cystic kidney disease)
www.UpToDate.com 2015
Ref No 10b
Uromodulin: old friend with new roles in health and disease
Pediatr Nephrol (2014) 29:1151–1158

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