• The overactivity of FGF-23 reduces vitamin D 1α-hydroxylation and phosphate reabsorption by the kidneys, leading to hypophosphatemia and the related features of ricket. (wikipedia.org)
  • Ms-D3 Softgel Capsule 4's is also used in the treatment of familial hypophosphatemia (a group of rare inherited disorders characterized by impaired kidney conservation of phosphate and in some cases, altered vitamin D metabolism). (apollopharmacy.in)
  • Defective phosphate transport and hypophosphatemia in this case result in appropriately increased 1,25-dihydroxyvitamin D3 levels, thus leading to hypercalciuria. (msdmanuals.com)
  • At least seven mutations in the FGF23 gene have been found to cause hyperphosphatemic familial tumoral calcinosis (HFTC), a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. (encyclopedia.pub)
  • Incidental Finding of Attenuated Familial Adenomatous Polyposis. (cdc.gov)
  • Echinocytes occur in many conditions, including malnutrition associated with mild hemolysis due to hypomagnesemia and hypophosphatemia, uremia, hemolytic anemia in long-distance runners, and pyruvate kinase deficiency . (medscape.com)
  • Familial cases can occur as either part of the multiple endocrine neoplasia syndromes (MEN 1 or MEN 2a), hyperparathyroid-jaw tumor (HPT-JT) syndrome, or familial isolated hyperparathyroidism (FIHPT). (medscape.com)
  • Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. (ox.ac.uk)
  • Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. (beds.ac.uk)
  • RESULTS: Sixteen members were hypercalcemic with normal or elevated serum PTH concentrations and mild hypophosphatemia, features consistent with FHH3. (ox.ac.uk)
  • No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. (ox.ac.uk)
  • It was first described by Jones in 1933 as a familial multilocular cystic disease of the jaws. (washington.edu)
  • Developmental conditions include abnormal morphology of the crown (eg, dens invaginatus, dens evaginatus) and abnormal structure of the dentine (eg, dentine dysplasia, dentinogenesis imperfecta, osteogenesis imperfecta , familial hypophosphatemia). (medscape.com)
  • Herein, we report a familial case of a whole germline CDC73 deletion discordant for PHPT. (elsevierpure.com)
  • X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. (ox.ac.uk)
  • Healthcare Transition from Pediatric- to Adult-Focused Care in X-Linked Hypophosphatemia: Review and Expert Consensus. (cdc.gov)
  • At least seven mutations in the FGF23 gene have been found to cause hyperphosphatemic familial tumoral calcinosis (HFTC), a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. (nih.gov)
  • Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling disorder of fibroblast growth factor 23 (FGF23) deficiency or resistance. (nih.gov)
  • Overactivity of fibroblast growth factor 23 reduces phosphate reabsorption by the kidneys, leading to low levels of phosphate in the blood (hypophosphatemia) and related problems with bone growth in people with autosomal dominant hypophosphatemic rickets. (nih.gov)
  • 11] Menon LP,Weinstein RS.Iron replacement ameliorates hypophosphatemia in autosomal dominant hypophosphatemic rickets:A review of the role of iron. (magtech.com.cn)
  • Rhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis. (wjgnet.com)
  • Hypophosphatemia (the H in XLH) is a condition caused by a low level of phosphorus in the blood. (xlhlink.com)
  • Sodium Phosphates Injection, USP, 3mM P/mL, is indicated as a source of phosphorus, for addition to large volume intravenous fluids, to prevent or correct hypophosphatemia in patients with restricted or no oral intake. (ncats.io)
  • Hypophosphatemia in the strict sense of the term refers to subnormal phosphorus concentrations in blood. (tnwmovie.com)
  • It has been stated that 38% of hyperadrenocortical dogs have hypophosphatemia, but actual serum phosphorus concentrations were not reported. (tnwmovie.com)
  • In practice, however, it is common to consider hypophosphatemia as a synonym for phosphorus deficiency, which is incorrect and potentially misleading, because blood phosphate concentration is a poor surrogate marker for the phosphorous level in the body. (tnwmovie.com)
  • Familial hypophosphatemic rickets (HR) is a rare inherited disorder characterized by renal phosphate wasting and inappropriately low levels of calcitriol causing hypophosphatemia and abnormal bone mineralization, first described by Albright [ 1 ]. (hindawi.com)
  • X-linked hypophosphataemia is a rare condition that causes low phosphate levels in the blood (hypophosphataemia), associated high phosphate excretion in the urine (hyperphosphaturia), and symptoms of rickets such as bowed or knock-kneed legs. (contact.org.uk)
  • The prevailing form of HR is X-linked dominant hypophosphatemia (XLH) caused by an inactivating mutation of the PHEX gene [ 5 ]. (hindawi.com)
  • These disorders may lead to either hyper- or hypophosphatemia, which can be caused by cellular shifts of phosphate. (ncats.io)
  • 6] Kinoshita Y,Fukumoto S. X-linked hypophosphatemia and FGF23-related hypophosphatemic diseases:prospect for new treatment[J]. Endocr Rev,2018,39(3):274-291. (magtech.com.cn)
  • Hypophosphatemia is a low level of phosphate in your blood. (tnwmovie.com)
  • The primary forms of osteoporosis in childhood are relatively rare, and some of them are familial or genetically determined (Table 1 ). (biomedcentral.com)
  • Patients with hypophosphatemia can be treated with dietary phosphate supplements (potassium phosphate, for example). (ncats.io)
  • Patients with non-synonymous allelic variants had an earlier onset of gout (42 vs 48 years, P = 0.0143) and a greater likelihood of a familial history of gout (41% vs 27%, odds ratio = 1.96, P = 0.053). (symptoma.com)