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.

Transient pseudohypoaldosteronism: a potentially severe condition affecting infants with urinary tract malformation.

BACKGROUND: Secondary pseudohypoaldosteronism (S-PHA) is a life-threatening condition affecting young children with urinary tract malformation (UTM). OBJECTIVE: The aim of the study was to highlight the diagnosis of S-PHA in children with UTM and propose appropriate management. STUDY DESIGN: The authors retrospectively reviewed cases of S-PHA related to UTM observed at the institution and searched the PubMed® database to review the literature. RESULTS: A total of 116 cases of S-PHA associated with UTM, including the four cases from the institution, were reviewed. One hundred six cases (92.2%) were younger than 6 months, and 95 cases (81.9%) occurred in boys. Urinary tract infection was associated in 105 cases (90.5%). All types of UTM were observed. In the absence of urinary tract infection, S-PHA was related to bilateral UTM or solitary kidney. In 89 cases (76.5%), S-PHA resolved with medical treatment only. In cases of UTM requiring immediate surgery, electrolyte imbalance related to S-PHA also resolved after surgery. Children with associated urinary tract infection and bilateral UTM are at higher risk of developing S-PHA. DISCUSSION: The pathogenesis of S-PHA has not been fully elucidated. Renal tubular immaturity may be one of the factors involved, in view of the young age of the population being affected. A high rate of bilateral UTM (or UTM on solitary kidney) was observed (50.9%), suggesting an association with S-PHA. In the absence of urinary tract infection (UTI), S-PHA appeared to occur more frequently in the presence of bilateral UTM. Although the indication for early surgery remains unclear, it may have a role in the prevention of UTI and prevention of recurrence of S-PHA. Serum electrolytes should be checked in children with UTM before urological surgery, and/or presenting urinary tract infection, before the age of 6 months. The results of this study must be interpreted cautiously because of its retrospective nature and the fact that data were derived from various articles. Few articles on S-PHA related to UTM have been published in the literature. To the best of the authors' knowledge, the study constitutes the largest series published to date. CONCLUSIONS: S-PHA results in potentially severe electrolyte imbalance and affects children younger than 6 months with UTI and/or UTM. Electrolyte abnormalities related to S-PHA often resolve after administration of appropriate intravenous electrolyte solution and treatment of UTI and/or surgery.

[Evaluation of the measurement of hemoglobin by the Hemocue System® in the preterm neonate less than 28 days old]. / Évaluation de la mesure du taux d'hémoglobine par Hémocue® chez le nouveau-né prématuré de moins de 28 jours de vie.

BACKGROUND: Hemoglobin (Hb) measurement is essential for the monitoring of anemia in preterm neonates to assess if any bleeding (pulmonary, cerebral, digestive) is present. EDTA samples require 500 µL vs. 10 µL for the Hemocue(®) system. This system has been evaluated and validated in adults and children but not in preterm neonates with fetal hemoglobin. The aim of the study was to compare Hb measurement with the Hemocue(®) system vs. the EDTA laboratory system on fetal Hb in preterm neonates. MATERIALS AND METHODS: This was a prospective study conducted in the preterm intensive care unit in the Amiens Hospital. Preterm neonates, before 28 days of life, requiring EDTA (Hb) measurement were included. Two Hemocues(®) were performed at the same time. Postnatal age (correlated to the fetal hemoglobin level decrease), blood sample site, and other factors that could influence the Hb result were evaluated. RESULTS: Seventy-six EDTA and 152 Hemocue(®) samples from 38 preterm neonates were included. The term was 28.1±3.7 weeks of gestation, the birth weight was 1215.5±657 g. We found a good correlation between the Hemocue(®) and EDTA samples (Hemocue(®)=EDTA*0.94-0.4; R(2)=0.63; P<0.001). The influence of confounding factors was insignificant. CONCLUSION: The use of the Hemocue(®) system showed a good correlation with the EDTA measurement of fetal Hb, with a moderate bias (-0.2±1.5 g/dL), which remained stable for the first 28 days of life.