Thursday, August 18, 2011

Topic Discussion: Uromodulin Associated Kidney Disease

1.A disease entity called family juvenile hyperuricemic nephropathy or medullary cystic kidney disease type 2 is something that we rarely encounter.  It is also called uromodulin storage or uromulin associated kidney disease.
2.Clinically: Uric acid associated damages- tophi, gout and ultimately chronic renal damage leading to dialysis by 4th decade. 
3. Chromosome 16p12 ( autosomal dominant)
4. It's a reduced excretion problem of urate( unclear why?)
5. Diagnosis can be made:- history of childhood gout, renal insuff without hematuria or proteinuria and bland urine sediment and family history of gout
6. Renal US might reveal cysts but NOT always
7. Allopurinol and ACEI or ARB treatment are only potential supportive measures.

Some interesting work is being done at certain centers around the country
Look at the lists below:

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