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16,194 results
  • GeneReviews®: Hereditary Distal Renal Tubular Acidosis [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AAlexander RT, Law L, … Santos FBOOK
  • Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations…
  • Short stature: making a crystal clear diagnosis. [Case Reports]
    J Pediatr Endocrinol Metab 2019; 32(10):1187-1191Blackburn J, Ramakrishnan R
  • Background Short stature is a common presentation in paediatric practice. Rickets can lead to poor growth and finding the underlying cause of rickets can, at times, be challenging. Case presentation The child was initially referred due to parental concerns of delayed walking, bowed legs, waddling gait and faltering growth. She was noted to have features of rickets. Bone profile and renal function…
  • FGF23 and Associated Disorders of Phosphate Wasting. [Journal Article]
    Pediatr Endocrinol Rev 2019; 17(1):17-34Gohil A, Imel EA
  • Fibroblast growth factor 23 (FGF23), one of the endocrine fibroblast growth factors, is a principal regulator in the maintenance of serum phosphorus concentration. Binding to its cofactor αKlotho and a fibroblast growth factor receptor is essential for its activity. Its regulation and interaction with other factors in the bone-parathyroid-kidney axis is complex. FGF23 reduces serum phosphorus con…
  • Clinical features of vitamin D deficiency in children: A retrospective analysis. [Journal Article]
    J Steroid Biochem Mol Biol 2019; :105491Zhang X, Liu Z, … Wang W
  • Vitamin D is very important for children's health. Previous studies have shown that vitamin D deficiency leads to a series of diseases in adults. However, pediatricians are mostly aware of rickets caused by vitamin D deficiency in children and poorly aware of other symptoms. This study aimed to retrospectively analyze the different clinical features of vitamin D deficiency to enhance identificati…
  • Craniosynostosis and metabolic bone disorder. A review. [Journal Article]
    Neurochirurgie 2019Di Rocco F, Rothenbuhler A, … Lingart A
  • CONCLUSIONS: The impact of metabolic synostosis is very variable, depending on the specific underlying metabolic disease, with a large spectrum of morphological and functional consequences. Diagnosis should be early and management should be carried out by a multidisciplinary team with expertise in both rare skeletal disorders and craniosynostosis. The impact of emergent medical therapies recently developed for some of these diseases will be assessed by systematic coherent follow-up of international registries.
  • Vitamin D Receptor Deficiency Does Not Affect Blood Pressure and Heart Function. [Journal Article]
    Front Physiol 2019; 10:1118Grundmann SM, Schutkowski A, … Stangl GI
  • Vitamin D is thought to play a role in blood pressure regulation, which in turn can influence cardiovascular risk. Several meta-analyses of cohort studies found low serum levels of 25-hydroxyvitamin D to be associated with increased blood pressure or increased cardiovascular morbidity and mortality in the general population. Active vitamin D mediates its function via the vitamin D receptor (Vdr),…
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