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557 Possible Causes for Flattening of the Talar Dome, Mutation in the PHEX Gene, Parathyroid Hormone Increased

  • X-Linked Hypophosphatemia

    To date, 131 mutations in the PHEX gene have been reported.[ncbi.nlm.nih.gov] […] shortening of the talar neck and flattening of the talar dome.[ncbi.nlm.nih.gov] Biochemical findings include elevated circulating levels of FGF-23 associated with hypophosphatemia, hyperphosphaturia, normal serum levels of calcium and parathyroid hormone[orpha.net]

  • Familial Hypophosphatemia

    X-linked dominant hypophosphatemic rickets, due to mutations in the PHEX gene, is the most common inherited form of the disorder.[genedx.com] Increased levels of parathyroid hormone further aggravate phosphorus loss.[consultant360.com] Review Topic QID: 932 2 increased phosphate level 3 decreased alkaline phosphatase level 4 increased vitamin D level 5 increased parathyroid hormone level ML 1 Select Answer[orthobullets.com]

    Missing: Flattening of the Talar Dome
  • Vitamin D Deficiency

    […] in the PHEX gene.[ncbi.nlm.nih.gov] Cross sectional studies demonstrated that prevalence of HF is increased in patients with Vitamin D deficiency or parathyroid hormone (PTH) plasma level increase, whereas longitudinal[ncbi.nlm.nih.gov] Increased parathyroid hormone (PTH) is also known to be associated with heart failure.[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome
  • Hypophosphatemia

    Etiology The disease is caused by various mutations in the PHEX gene (Xp22.1) and is transmitted as an X-linked dominant trait with complete penetrance, but variable expressivity[orpha.net] Biochemical findings include elevated circulating levels of FGF-23 associated with hypophosphatemia, hyperphosphaturia, normal serum levels of calcium and parathyroid hormone[orpha.net] , increased or normal plasma levels of alkaline phosphatise, normal plasma calcidiol concentration and inappropriately normal or low serum levels of calcitriol.[orpha.net]

    Missing: Flattening of the Talar Dome
  • Proximal Renal Tubular Acidosis

    […] in the PHEX gene Pathophysiology : : mutation in the PHEX gene increased levels of FGF23 (by an unknown mechanism) indirect inhibition of the sodium- phosphate cotransporter[amboss.com] ] Decreased serum calcium and increased parathyroid hormone levels associated with Vitamin D deficiency probably reduce the bicarbonate reabsorption at the proximal tubules[sjkdt.org] […] excretion) NH 4 excretion Normal or calcium excretion Treatment References: [1] [2] [3] X-linked hypophosphatemic rickets Etiology : X-linked dominant disease caused by a mutation[amboss.com]

    Missing: Flattening of the Talar Dome
  • Distal Renal Tubular Acidosis

    […] in the PHEX gene Pathophysiology : : mutation in the PHEX gene increased levels of FGF23 (by an unknown mechanism) indirect inhibition of the sodium- phosphate cotransporter[amboss.com] […] excretion) NH 4 excretion Normal or calcium excretion Treatment References: [1] [2] [3] X-linked hypophosphatemic rickets Etiology : X-linked dominant disease caused by a mutation[amboss.com]

    Missing: Flattening of the Talar Dome
  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    This process is due to mutations in the FGF23 and PHEX gene.[ivami.com] Biochemical evaluation of the proband revealed hypophosphatemia with increased renal phosphate wasting, hypercalciuria, low serum parathyroid hormone (PTH) and an elevated[ncbi.nlm.nih.gov] […] in phosphorus dose 21 ; increased parathyroid hormone requires an increase in calcitriol and decrease in phosphorus.[scielo.mec.pt]

    Missing: Flattening of the Talar Dome
  • Acute Alcohol Intoxication

    Serum parathyroid hormone levels exceeded base-line values during the last 4 hours of the 16-hour study period; this increase was accompanied by a decrease in the urinary[ncbi.nlm.nih.gov] The increase in serum magnesium concentrations coincided with the decline in serum parathyroid hormone concentrations.[nejm.org] In the women, serum parathyroid hormone levels decreased from 29.2 /- 2.8 to 17.3 /- 2.6 ng per liter two hours after the administration of alcohol was begun (P less than[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Rickets

    CONCLUSIONS: Novel and de novo mutations are frequent and PHEX mutations are still the most common genetic defects in the Turkish population.[ncbi.nlm.nih.gov] In the later course, levels are, slightly low because parathyroid hormone increases renal excretion. Very high or very low concentrations suggest renal rickets.[boneandspine.com] They were treated with calcitriol and Joulie's solution, whereon it was observed that serum parathyroid hormone and phosphaturia decreased while phosphataemia increased.[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome
  • Third Trimester Pregnancy

    The concomitant phenomenon of a third trimester pregnancy with a significant degree of pelvic organ prolapse is extremely rare. We report on a patient with pelvic organ prolapse complicating third trimester pregnancy treated by concomitant cesarean hysterectomy and abdominal sacrocolpopexy. A 30-year-old woman,[…][ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene