Close genetic linkage between HLA and renal glycosuria.

Renal glycosuria is an inherited disorder of renal tubule function in which significant amounts of glucose are excreted in the urine in the simultaneous presence of normal blood glucose levels. Renal glucose titration analyses and HLA genotypes were performed in 5 unrelated affected families with a total of 25 patients and 40 healthy relatives. In each family the gene responsible for renal glycosuria segregates with the HLA complex suggesting a close genetic linkage.

Origin of glycosylated hemoglobin A1 in chronic renal failure.

In chronic renal failure both HbA1 and HbA1c levels have been reported to be elevated. In order to investigate the causes of such increase we measured HbA1 (cation-exchange chromatography), blood urea nitrogen, arterial blood pH, plasma bicarbonate, phosphatemia, serum iron and serum ferritin before dialysis in 60 uremic patients receiving long term hemodialysis. The increased levels of HbA1 do not correlate with glucose intolerance, phosphatemia, blood urea nitrogen, time averaged concentration of urea, serum iron and serum ferritin.

More on the increase of hemoglobin A1 in chronic renal failure: the role of acidosis.

In chronic renal failure both Hb A1 and Hb A1c levels have been reported to be elevated. In order to investigate the causes of such increase we measured Hb A1 (cation-exchange chromatography), blood urea nitrogen, arterial blood pH and plasma bicarbonate in 40 patients with chronic renal failure receiving conservative treatment, 45 uremic patients on intermittent hemodialysis and 60 subjects with normal renal function. In patients with chronic renal failure Hb A1 highly correlates with arterial blood pH and plasma bicarbonate, thus emphasizing the major role played by uremic acidosis in the increased Hb A1 fraction in chronic renal failure.

Is renal glycosuria a benign condition?

HLA typing and a range of autoantibodies were evaluated in five families affected with type A renal glycosuria. HLA typing demonstrates that this inherited disease is controlled by an autosomal dominant gene located on chromosome six in close genetic linkage with the HLA complex. All affected family members have significant titres of autoantibodies to nuclear antigens, native DNA, smooth muscle, mitochondria, liver antigens, thyroglobulin, thyroid microsomes and renal tubule brush border with variable association.