Persistently high urine glucose levels caused by familial renal glycosuria.

Glycosuria generally occurs when the threshold for glucose reabsorption by the proximal renal tubule is exceeded or when reabsorption of filtered glucose is impaired. Although the discovery of glycosuria in a child will prompt screening for diabetes mellitus, it is also a sign of a rare tubulopathy called "familial renal glycosuria" (OMIM #233100). This tubulopathy is linked to a defect in the sodium-glucose co-transporter 2, encoded by the SLC5A2 gene. Here, we describe and discuss two pediatric cases in whom familial renal glycosuria was discovered fortuitously after the observation of persistently high urine glucose levels in the absence of hyperglycemia.

Another case of idiopathic megaesophagus in a girl with growth hormone deficiency.

BACKGROUND: Achalasia or idiopathic megaesophagus is rare in children, and an association with growth hormone (GH) deficiency has rarely been described. CASE REPORT: This report is of a girl treated with recombinant GH (rGH) for isolated GH deficiency who simultaneously presented with idiopathic megaesophagus. CONCLUSION: This case report highlights the fact that practitioners need to be aware of this possible morbid association.

Childhood cryptosporidiosis: a case report.

Cryptosporidium has emerged as an important cause of diarrheal illness worldwide, especially amongst young children and patients with infectious or iatrogenic immune deficiencies. The authors describe a case of mild cryptosporidiosis in a well-nourished, immunocompetent, one-year-old child. Rapid clinical and parasitological improvement was observed after a 3-day course of nitazoxanide.

[Neonatal renal venous thrombosis following an electrical shock in pregnancy]. / Thrombose néonatale de la veine rénale suite à une électrisation in-utero accidentelle.

Neonatal renal venous thrombosis may result in severe morbidity. Predisposing conditions are well known. We report the case of an unusual and early neonatal renal venous thrombosis. The mother received an electrical shock at 34 weeks gestation. This case demonstrates that maternal electrical shock effect on the fetus should be early investigated.

[Prevalence of celiac disease markers in a French cohort of children and adolescents with type 1 diabete mellitus]. / Prévalence des marqueurs biologiques de la maladie coeliaque dans une cohorte d'enfants et d'adolescents diabétiques de type I.

The aim of this study was to determine the prevalence of celiac disease (CD) markers in a French cohort of 84 children type 1 diabetics. Detection of antitransglutaminase (AtTG), antiendomysium (AEA) and antigliadin (AGA) antibodies was performed. Group 1 included 81 (96.4%) diabetic patients with negative antibodies. Group 2 included 3 patients (3.6%) with positive serological markers: 1 AGA-AEA-AtTG and 1 AEA-AtTG with proved histological diagnosis and 1 AGA positive with negative histology. No statistically significant difference was observed between the groups with regard to age, duration of diabetes, familial target stature, and ratios Height/Age and Weight/Height. Presence of CD serological markers was related to a lower level of HbA1c. Prevalence of CD serological markers is important in this French cohort but lower than other countries.

[Central venous access for hemodialysis: use and practice with the child in France]. / Accès veineux centraux pour hémodialyse: usage et pratique chez l'enfant en France.

Central venous catheter (CVC) are being increasingly used as hemodialysis vascular access. In order to evaluate the indications, practice and uses in the pediatric population, we conducted a study in children with renal failure (RF). A questionnaire was sent to the 21 french paediatric hemodialysis centers to inquire population deserved, number, type, site and indications of CVC, procedure of management and attitude towards infection and thrombosis. A prospective survey was added to compile information about CVC during the period 7/2000-31/12/2000. Results (exhaustivity response 80%) showed 1. large diversity in choice of material with predominance of pediatric permcath QUINTON; 2. exclusive surgical insertion for 8 out of 19 centers; 3. rare use of femoral route (never and exceptionally reported, respectively by 4 and 6 centers and predominantly in acute RF; 4. heterogene attitude towards fixing, dressing, heparine locking and procedure of urokinase administration in case of thrombosis, whilst procedure towards infection was homogeneous; 5. indications of insertion of the 31 prospective study CVC were distributed in 4 subgroups a) breakdown of vascular permanent access (6 cases) or of peritoneal dialysis (2 cases), b) unexpected terminal renal failure (6 cases), c) deliberate choice to wait transplantation (4 cases) or to face breakdown of transplantation (4 cases), d) dysfunction of a previous CVC (7 cases); 6. a rate of 20% of dysfunction (flow problem); 7. a rate of replacement of 11%. AVC are effective forms of vascular access. However CVC indications should be carefully analysed and balanced if possible with alternative route such as anticipated creation of arterioveinous fistula, peritoneal dialysis and preemptive transplantation.