Long-term outcome of renal glucosuria type 0: the original patient and his natural history. |
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| Authors: | Sabine Scholl-Bürgi René Santer Jochen H H Ehrich |
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| Institution: | Department of Pediatrics, Medical School Hannover, Hannover, Germany. sabine.scholl@uibk.ac.at |
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| Abstract: | |
Introduction
| Primary renal glucosuria (OMIM 233100) is defined by an increasedurinary glucose excretion in a patient with a normal blood glucoseconcentration in whom all other filtered substrates are handledcompletely normally by the proximal tubules. Mild renal glucosuriais a relatively common condition that was first studied at thebeginning of the last century 1], but it was not until 1987that a study on a patient with virtual absence of renal tubularglucose reabsorption was published. This condition has beentermed type 0 renal glucosuria 2]. Here we report on the long-termhistory of this patient whose underlying genetic defect hasrecently been identified 3,4].
Case
| Patient P.M., a male of German descent, was born in
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| Keywords: | glucose glucosuria kidney SGLT transport |
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