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

作者：Sabine Scholl‐Bürgi, René Santer, Jochen H. H. Ehrich · 发表于：Nephrology Dialysis Transplantation · 年份：2004 · DOI：10.1093/ndt/gfh366 · 被引用次数：104 · 研究领域：Diet and metabolism studies、Glycogen Storage Diseases and Myoclonus、Digestive system and related health

1Department of Pediatrics, Medical School Hannover, Hannover and 2Department of Pediatrics, University of Hamburg, Hamburg, Germany 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]. Patient P.M., a male of German descent, was born in Romania. His parents are distantly related; the maternal grandfather and the paternal great-grandfather were twins. Eczema developed when he was 1 year old. Glucosuria was first detected in the patient at the age of 11 years, as he had suffered from persistent nocturnal enuresis, polyuria, polydipsia and episodes of polyphagia. Extensive laboratory examinations at the age of 15 years revealed a daily glucose excretion in the range of 109–141 g (606–780 mmol) with normal blood glucose levels. His physical examination and a detailed analysis of other renal function tests were entirely normal. In particular, other renal tubular function pa...