Long-term outcome of renal glucosuria type 0: the original patient and his natural history

Primary renal glucosuria (OMIM 233100) is defined by an increased urinary glucose excretion in a patient with a normal blood glucose concentration in whom all other filtered substrates are handled completely normally by the proximal tubules. Mild renal glucosuria is a relatively common condition that was first studied at the beginning of the last century [1], but it was not until 1987 that a study on a patient with virtual absence of renal tubular glucose reabsorption was published. This condition has been termed type 0 renal glucosuria [2]. Here we report on the long-term history of this patient whose underlying genetic defect has recently been identified [3,4].