Lumped in with autosomaHypoparathyroidismRicketsPseudohypoparathyroidismHypercalcemiaPhosphateDisordersAdenomatous polyposisHypomagnesemiaVitaminHyperparathyroidismSyndromesRenalMediterraneanSevereMildDiseaseConditionsCaseRareReviewHypoparathyroidismHereditaryOsteomalaciaHyperphosphatemiaGeneticTumoral calcinosisAutosomalHypokalemiaHypocalcemiaPhosphorusSevereRenal phosphateHyperphosphaturiaDisorderDiagnosisConcentrationsShort statureDominantDisordersChronic2017DiseasesCellularBloodPrimaryLevelsDietaryPatients
Lumped in with autosoma1
- X-linked hypophosphatemia may be lumped in with autosomal dominant hypophosphatemic rickets under general terms such as hypophosphatemic rickets. (wikipedia.org)
Hypoparathyroidism6
- This soft capsule can be used with other medications to treat hypocalcemia brought on by hypoparathyroidism, familial hypophosphatemia, or pseudohypoparathyroidism. (fareedpharma.com)
- Used to treat vitamin D deficiency or insufficiency, refractory rickets (vitamin D resistant rickets), familial hypophosphatemia and hypoparathyroidism, and in the management of hypocalcemia and renal osteodystrophy in patients with chronic renal failure undergoing dialysis. (drugbank.com)
- Vitamin D is also used with other medications to treat low levels of calcium or phosphate caused by certain disorders (such as hypoparathyroidism, pseudohypoparathyroidism, familial hypophosphatemia). (shelter.co.in)
- Vitamin D is additionally utilized with different prescriptions to treat low degrees of calcium or phosphate brought about by specific problems (like hypoparathyroidism, pseudohypoparathyroidism, familial hypophosphatemia). (medikartindia.com)
- Additionally, vitamin D supplements are sometimes used in combination with other medications to combat low levels of calcium or phosphate caused by specific disorders, such as hypoparathyroidism, pseudohypoparathyroidism, or familial hypophosphatemia. (arisoapp.com)
- Because vitamin D is involved in regulating the levels of minerals such as phosphorous and calcium, it is used for conditions caused by low levels of phosphorous (familial hypophosphatemia and Fanconi syndrome) and low levels of calcium (hypoparathyroidism and pseudohypoparathyroidism). (nutritioncy.com)
Rickets9
- X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. (wikipedia.org)
- An outstanding feature of familial hypophosphatemic rickets is disproportionate short stature. (boneandspine.com)
- Hypophosphatemic rickets is a genetic disorder characterized by hypophosphatemia, defective intestinal absorption of calcium, and rickets or osteomalacia unresponsive to vitamin D . It is usually hereditary. (msdmanuals.com)
- The disease manifests as a spectrum of abnormalities, from hypophosphatemia alone to growth retardation and short stature to severe rickets or osteomalacia. (msdmanuals.com)
- This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. (uky.edu)
- The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, childhood, and adolescence. (uky.edu)
- Article selection was done by comparing the evaluation of the growth in patients with familial hypophosphatemic rickets, including the variables that might affect them, for possible future therapeutic proposals. (uky.edu)
- It is concluded that the most significant fact in the treatment of familial hypophosphatemic rickets in infancy was the magnitude of the final stature. (uky.edu)
- 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. (encyclopedia.pub)
Pseudohypoparathyroidism1
- Vitamin D3 supplements are often used to treat disorders such as pseudohypoparathyroidism and familial hypophosphatemia. (truehealingnaturals.com)
Hypercalcemia5
- Laboratory tests showed hypercalcemia (13.6 mg/dL), hypophosphatemia (2.4 mg/dL), and elevated intact PTH level (149 pg/mL). (elsevierpure.com)
- Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism also belong to this category. (medscape.com)
- CONTEXT: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations are 3q21.1, 19p, and 19q13, respectively. (ox.ac.uk)
- BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) is one of the conditions that should be considered in the differential diagnosis of hypercalcemia and normo-hypophosphatemia in childhood. (bvsalud.org)
- Primary hyperparathyroidism is characterized by hypercalcemia and hypophosphatemia, secondary hyperparathyroidism is characterized by hyperphosphatemia and mild hypocalcemia, and tertiary hyperparathyroidism is characterized by hypercalcemia. (washington.edu)
Phosphate4
- 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)
Disorders3
- Introduction: Primary hyperparathyroidism (PHPT) occurs as part of familial syndromes, including CDC73-related disorders caused by germline pathogenic variants of the CDC73 gene, particularly in early adulthood. (elsevierpure.com)
- In addition to hypophosphatemia, these disorders all have normal glomerular filtration rate, normal serum levels of calcium. (boneandspine.com)
- Vitamin D supplements can be used to help treat inherited disorders resulting from an inability to absorb or process vitamin D, such as familial hypophosphatemia. (cloud9acuclinic.com)
Adenomatous polyposis1
- Incidental Finding of Attenuated Familial Adenomatous Polyposis. (cdc.gov)
Hypomagnesemia1
- 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)
Vitamin1
- an active form of vitamin D, used to treat kidney disease with low blood calcium, hyperparathyroidism due to kidney disease, osteoporosis, and familial hypophosphatemia. (what-i-believe.ca)
Hyperparathyroidism1
- 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)
Syndromes1
- Tumor-induced osteomalacia has similar clinical manifestations to the familial syndromes. (boneandspine.com)
Renal1
- 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)
Mediterranean1
- Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. (beds.ac.uk)
Severe1
- The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. (beds.ac.uk)
Mild1
- RESULTS: Sixteen members were hypercalcemic with normal or elevated serum PTH concentrations and mild hypophosphatemia, features consistent with FHH3. (ox.ac.uk)
Disease2
- 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)
Conditions1
- 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)
Case1
- Herein, we report a familial case of a whole germline CDC73 deletion discordant for PHPT. (elsevierpure.com)
Rare1
- X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. (ox.ac.uk)
Review1
- Healthcare Transition from Pediatric- to Adult-Focused Care in X-Linked Hypophosphatemia: Review and Expert Consensus. (cdc.gov)
Hypoparathyroidism6
- Ergocalciferol is indicated for use in the treatment of hypoparathyroidism, refractory rickets, also known as vitamin D resistant rickets, and familial hypophosphatemia. (nih.gov)
- Ergocalciferol capsules are indicated for use in the treatment of hypoparathyroidism, refractory rickets, also known as vitamin D resistant rickets, and familial hypophosphatemia. (nih.gov)
- Ergocalciferol is used in the treatment of hypoparathyroidism (condition in which the body does not produce enough parathyroid hormone), refractory rickets (softening and weakening of bones that does not respond to treatment), and familial hypophosphatemia (rickets or osteomalacia caused by an inherited condition with a decreased ability to break down vitamin D in the body). (medlineplus.gov)
- It is also used to treat low levels of calcium or phosphate caused by hypoparathyroidism, pseudohypoparathyroidism and familial hypophosphatemia. (optionrx.com)
- Vitamin D is also used with other medications to treat low levels of calcium or phosphate caused by certain disorders (such as hypoparathyroidism, pseudohypoparathyroidism, familial hypophosphatemia). (shelter.co.in)
- Vitamin D is additionally utilized with different prescriptions to treat low degrees of calcium or phosphate brought about by specific problems (like hypoparathyroidism, pseudohypoparathyroidism, familial hypophosphatemia). (medikartindia.com)
Hereditary5
- Hypophosphatemic rickets is a genetic disorder characterized by hypophosphatemia, defective intestinal absorption of calcium, and rickets or osteomalacia unresponsive to vitamin D . It is usually hereditary. (msdmanuals.com)
- X-linked hypophosphatemia (XLH) is a hereditary, progressive, and lifelong rare disease that affects up to 1 in 20,000 people. (xlhlink.com)
- The remaining 20% of familial hypophosphatemia patients have autosomal dominant hypophosphatemic rickets from gain-of-function autosomal recessive hypophosphatemic rickets and hereditary hypophosphatemic rickets with hypercalciuria. (medscape.com)
- Hypophosphatemic rickets(HR),also known as familial hypophosphatemia,is a hereditary disease characterized by hypophosphatemia and renal phosphate loss,mainly manifested as bone mineralization disorders. (magtech.com.cn)
- 13] Rafaelsen S,Johansson S,Raeder H,et al.Hereditary hypophosphatemia in Norway:a retrospective population-based study of genotypes,phenotypes,and treatment complications[J].Eur J Endocrinol,2016,174(2):125-136. (magtech.com.cn)
Osteomalacia4
- Hyperphosphatemia and hypophosphatemia both lead to the development of diseases, such as hyperphosphatemic tumoral calcinosis and rickets/osteomalacia, respectively. (nih.gov)
- X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. (wikipedia.org)
- Calcitriol is also sometimes used to treat rickets (softening and weakening of bones in children caused by lack of vitamin D), osteomalacia (softening and weakening of bones in adults caused by lack of vitamin D), and familial hypophosphatemia (rickets or osteomalacia caused by decreased ability to break down vitamin D in the body). (medlineplus.gov)
- The disease manifests as a spectrum of abnormalities, from hypophosphatemia alone to growth retardation and short stature to severe rickets or osteomalacia. (msdmanuals.com)
Hyperphosphatemia1
- 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)
Genetic3
- Genetic counseling can be offered to family members of affected individuals and genetic screening for the CASR familial mutation. (orpha.net)
- With recent advances in the understanding of the genetic basis of familial hypophosphatemic rickets, the term X-linked hypophosphatemic rickets has become more commonly used. (medscape.com)
- Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets. (bredagenetics.com)
Tumoral calcinosis1
- Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling disorder of fibroblast growth factor 23 (FGF23) deficiency or resistance. (nih.gov)
Autosomal2
- 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)
Hypokalemia1
- Rhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis. (wjgnet.com)
Hypocalcemia1
- Hypocalcemia and hypophosphatemia have also been described. (tnwmovie.com)
Phosphorus5
- 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)
Severe1
- The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. (nih.gov)
Renal phosphate1
- 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)
Hyperphosphaturia1
- 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)
Disorder1
- [ 1 ] X-linked hypophosphatemia (XLH) is a dominant disorder and accounts for more than 80% of all familial hypophosphatemia. (medscape.com)
Diagnosis5
- At the age of 22 the patient was osteotomized in both tibiae and a diagnosis of familial hypophosphatemic rickets was suspected. (hindawi.com)
- Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium. (nih.gov)
- Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. (nih.gov)
- Familial occurrence of this condition led to the diagnosis of familial hypophosphatemic rickets. (medscape.com)
- 12] Haffner D,Emma F,Eastwood DM,et al.Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia[J].Nat Rev Nephrol,2019,15(7):435-455. (magtech.com.cn)
Concentrations1
- FHH type 3 exhibits mild hypophosphatemia and elevated plasma PTH concentrations. (orpha.net)
Short stature1
- An outstanding feature of familial hypophosphatemic rickets is short stature. (medscape.com)
Dominant1
- The prevailing form of HR is X-linked dominant hypophosphatemia (XLH) caused by an inactivating mutation of the PHEX gene [ 5 ]. (hindawi.com)
Disorders1
- These disorders may lead to either hyper- or hypophosphatemia, which can be caused by cellular shifts of phosphate. (ncats.io)
Chronic1
- Hypophosphatemia can be acute or chronic. (tnwmovie.com)
20171
- X-linked hypophosphatemia and growth[J]. Rev Endocr Metab Disord,2017,18(1):107-115. (magtech.com.cn)
Diseases1
- 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)
Cellular1
- Causes of hypophosphatemia are shown in Table 1.Hypophosphatemia can occur when there are increased losses, decreased intake, or cellular shifts of phosphate. (tnwmovie.com)
Blood1
- Hypophosphatemia is a low level of phosphate in your blood. (tnwmovie.com)
Primary1
- The primary forms of osteoporosis in childhood are relatively rare, and some of them are familial or genetically determined (Table 1 ). (biomedcentral.com)
Levels2
- hypophosphatemia would normally cause elevated 1,25-dihydroxyvitamin D3 levels. (msdmanuals.com)
- Defective phosphate transport and hypophosphatemia in this case result in appropriately increased 1,25-dihydroxyvitamin D3 levels, thus leading to hypercalciuria. (msdmanuals.com)
Dietary1
- Patients with hypophosphatemia can be treated with dietary phosphate supplements (potassium phosphate, for example). (ncats.io)
Patients1
- 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)