Abstract. The role of SGLT2 (the gene for a renal sodiumdependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice mutation was found in 5 families of different ethnic backgrounds, and a 12-bp deletion was found in two German families. Fourteen individuals (including the original patient with 'renal glucosuria type 0') were homozygous or compound heterozygous for an SGLT2 mutation resulting in glucosuria in the range of 14.

In patients with end-stage renal failure (ESRF), the incidence of atherosclerosis and cancer is increased. The importance of lipid peroxidation (LPO) products in the pathogenesis of these complications has recently been emphasized. The LPO products malondialdehyde (MDA) and hexanal, lipophilic antioxidants and erythrocyte glutathione (GSH) were estimated in 10 pediatric hemodialysis (HD) patients before and after HD and in 11 peritoneal dialysis (CPD) patients. Before HD, MDA was elevated [median (interquartile range): 384.5 (110 to 501) nM; normal < 150 nM], whereas plasma hexanal levels were normal in all patients [130.5 (88 to 222) nM; < 320 nM]. HD decreased MDA concentrations on average by 88% but did not change hexanal levels. CPD patients exhibited high plasma MDA concentrations [371 (287 to 468) nM], whereas hexanal was in the low normal range [56 (51 to 81) nM]. Antioxidants were normal in both groups and unchanged during HD. GSH decreased slightly during HD. We hypothesize that MDA may accumulate in ESRF due to reduced plasma clearance. Our results argue against a general increase of LPO in uremia.

There is increasing evidence that cytogenetically invisible chromosome rearrangements are an important cause of genetic disease. Clues to the chromosomal location of these rearrangements may be provided by a specific clinical diagnosis, which can then be investigated by targeted FISH or molecular studies. However, the phenotypic features of some microdeletion syndromes are difficult to recognise, particularly in infants. In addition, the presence of other chromosome aneuploidy may mask the typical clinical features. In the present study, the presence of tubers on cranial magnetic resonance imaging (

Objective To assess the suitability of a laparoscopic Tenckhoff catheter implantation (TCI) technique in children. Design Prospective nonrandomized controlled study. Setting Laparoscopic and conventional TCIs in children were performed in a tertiary-care hospital. Patients Between 1998 and 2001, 25 laparoscopic and 23 conventional TCIs were performed in 42 children. Patients in unstable clinical conditions were excluded. The laparoscope was inserted via transumbilical incision, and a forceps by percutaneous puncture. After catheter insertion, the tip was positioned in the Douglas space, and the inner cuff placed adjacent to the peritoneum, without sutures. Peritoneal dialysis was initiated immediately after surgery. Main Outcome Measures Catheter-related complications during the first 4 weeks after TCI. Results After laparoscopic TCI, dialysate leakage occurred in 2 of 25 cases, one of which could be managed conservatively. In 1 patient in whom dwell volume was increased immediately after laparoscopic TCI, subcutaneous leakage occurred at the site of forceps insertion. In 2 patients with severe pre-existing intra-abdominal adhesions, outflow obstruction persisted after laparoscopic TCI. Simultaneous herniotomy was performed in 2 male infants. After conventional TCI, dialysate leakage occurred in 5 of 23 cases, 1 of which could be managed conservatively. Outflow obstruction occurred in 2 cases. Conclusion Laparoscopic TCI is feasible in children of all age groups, with at least equivalent functional results compared to conventional TCI. An additional advantage is the option to identify and eliminate anatomical risk factors, such as intra-abdominal adhesions or preformed inguinal hernias in male infants.

Drug dosing in paediatric nephrology requires multiple considerations and is therefore time-consuming and error-prone. This review combines dose adjustment guidelines for children with renal failure and information on the immature renal function of neonates and premature babies in order to help both paediatric nephrologists and neonatologists estimate drug doses for their patients.