Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia.

X-linked hypophosphatemia (XLH) is the most common form of genetic rickets. Mainly diagnosed during childhood because of growth retardation and deformities of the lower limbs, the disease affects adults with early enthesopathies and joint structural damage that significantly alter patient quality of life. The conventional treatment, based on phosphorus supplementation and active vitamin D analogs, is commonly administered from early childhood to the end of growth; unfortunately, it does not allow complete recovery from skeletal damage.

Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia.

X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia, caused by inactivating mutations in the Phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. With aging, adult patients develop paradoxical heterotopic calcifications of tendons and ligaments at their insertion sites (enthesophytes), and joint alterations. Understanding the progression of this structural damage that severely affects patients' quality of life will help to improve the management of XLH.

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.

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.

[Evaluation of the measurement of hemoglobin by the Hemocue System® in the preterm neonate less than 28 days old].

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.