I am 70 and have kidney cysts. I also have been diagnosed with interstitial nephritis (distal). My e-GFR is in the upper 40’s, and I have a very low (1.002) specific gravity. I have some proteinuria–mainly after exercise. I have recently only had dipstick urine tests, nothing quantitative. have also been diagnosed with Sjogren’s. Recently I met with a new nephrologist. she believes I have a recently discovered disorder called an HNF-Beta 1 mutation. People with this supposedly have renal cysts, pancreatic insufficiency (pancreatic hypoplasia), hypomagnesemia, liver disorders, urogenital malformations, increased transaminases, and maturity onset diabetes. I do have pancreatic insufficiency which has been attribute to sjogren’s, and occasional increased AST. Otherwise I do not have the features of this disease. I am very leery of this new diagnosis. I have found some literature on it, but not too much. It has been researched, it seems primarily in Europe. I want to learn more and get another opinion. Are you familiar with this disorder? Do you know where it is being studied? I would also like to know your opinion on using dipstick methods to determine the protein/creatinine ratio in a person with low specific gravity. Do labs do quantitative tests any more? Thanks.

I am not familiar with the genetic disorder known as HNF-Beta 1.  I have not previously recognized anyone with this disease.  I am not aware of anyone studying this disease.  I also do not recommend dipstick evaluation of proteinuria.  It is better to quantitate the protein in the urine by doing a protein to creatinine ratio.  Most genetic disorders manifest at younger rather than older ages.  I recommend further consultation with your nephrologist as to how certain you can be about this diagnosis.

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