Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308133034> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W4308133034 endingPage "A222" @default.
- W4308133034 startingPage "A222" @default.
- W4308133034 abstract "Abstract Introduction Hereditary Hypophosphatemic Rickets (HHR) is a group of rare inherited disorders consisting of X-linked hypophosphatemic rickets (XLHR, prevalence 1 in 20,000 births), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal recessive hypophosphatemic rickets (ARHR). XLHR is caused by loss of function mutation of the PHEX gene, ARHR is caused by loss of function mutation of the DMP1/ENPP1 gene and ADHR is caused by activating point mutations in FGF23. These mutations result in renal phosphate wasting, hypophosphatemia, and impaired bone mineralization. It presents in childhood as skeletal deformities, abnormal gait, skeletal pain, dental abnormalities, and stunted growth. Adults have osteomalacia-related pain, fractures, and arthritis. The diagnosis is made by findings consistent with rickets and normal serum calcium, normal 25-hydroxy vitamin D, low-normal 1,25-dihydroxy vitamin D, elevated alkaline phosphatase activity, and low phosphate levels. Urine studies show low urine calcium and decreased tubular maximum reabsorption of phosphate, confirming renal wasting of phosphate. The goal of treatment in adults is to reduce pain, prevent fractures, enhance mobility, and decrease osteomalacia. Phosphate and vitamin D supplementations are used with close monitoring as it is associated with severe adverse events. It can cause hypercalcemia leading to nephrocalcinosis, nephrolithiasis, chronic kidney disease, and hyperparathyroidism. There is no evidence that the treatment affects long-term skeletal complications. Burosumab, a monoclonal antibody that inhibits FGF23, is approved for the treatment of XLHR. No studies are available about the use of Burosumab in ADHR or ARHR. Case Presentation A 18-year-old male with past medical history of hypophosphatemic rickets with multiple fractures, on oral phosphate tablets and calcitriol, presented to the Endocrinology clinic to establish care. He had been following Pediatric Endocrinology in the past. His blood work showed normal calcium, low phosphate of 1.6 mg/dl (normal: 2.5-4.5 mg/dl), vitamin D 25 hydroxy level of 26 ng/ml (normal: 20-100 ng/ml), vitamin D 1,25-dihydroxy level of 25 pg/ml (normal: 30-80 pg/ml), intact parathyroid hormone level of 549 pg/ml (normal: 15-65 pg/ml), and alkaline phosphatase of 438 U/l (normal: 40-150 U/l). Urine calcium was low and urine phosphorus was elevated with phosphate/creatinine ratio more than 2000 (normal: 60-962), consistent with renal phosphate wasting. Genetic testing in the past was negative for PHEX gene mutation, so he was not a candidate for Burosumab. Conclusion There is limited knowledge about Hereditary Hypophosphatemic Rickets, especially ADHR and ARHR due to limited cases (less than 100 cases reported so far). The current standard of treatment of HHR is sub-optimal and associated with adverse effects. Burosumab has not been tested in ADHR or ARHR, so it is unclear if it will be beneficial in this subgroup. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m., Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m." @default.
- W4308133034 created "2022-11-08" @default.
- W4308133034 creator A5075855563 @default.
- W4308133034 creator A5087114848 @default.
- W4308133034 date "2022-11-01" @default.
- W4308133034 modified "2023-09-25" @default.
- W4308133034 title "PSAT228 Hereditary Hypophosphatemic Rickets: Management in Adults" @default.
- W4308133034 doi "https://doi.org/10.1210/jendso/bvac150.455" @default.
- W4308133034 hasPublicationYear "2022" @default.
- W4308133034 type Work @default.
- W4308133034 citedByCount "0" @default.
- W4308133034 crossrefType "journal-article" @default.
- W4308133034 hasAuthorship W4308133034A5075855563 @default.
- W4308133034 hasAuthorship W4308133034A5087114848 @default.
- W4308133034 hasBestOaLocation W43081330341 @default.
- W4308133034 hasConcept C114276007 @default.
- W4308133034 hasConcept C124490489 @default.
- W4308133034 hasConcept C126322002 @default.
- W4308133034 hasConcept C134018914 @default.
- W4308133034 hasConcept C160160445 @default.
- W4308133034 hasConcept C181199279 @default.
- W4308133034 hasConcept C185592680 @default.
- W4308133034 hasConcept C2776139714 @default.
- W4308133034 hasConcept C2776338720 @default.
- W4308133034 hasConcept C2776489590 @default.
- W4308133034 hasConcept C2778049618 @default.
- W4308133034 hasConcept C2778471162 @default.
- W4308133034 hasConcept C2778573388 @default.
- W4308133034 hasConcept C2779740938 @default.
- W4308133034 hasConcept C2780091579 @default.
- W4308133034 hasConcept C2781145721 @default.
- W4308133034 hasConcept C2781208988 @default.
- W4308133034 hasConcept C2911197707 @default.
- W4308133034 hasConcept C519063684 @default.
- W4308133034 hasConcept C55493867 @default.
- W4308133034 hasConcept C71924100 @default.
- W4308133034 hasConceptScore W4308133034C114276007 @default.
- W4308133034 hasConceptScore W4308133034C124490489 @default.
- W4308133034 hasConceptScore W4308133034C126322002 @default.
- W4308133034 hasConceptScore W4308133034C134018914 @default.
- W4308133034 hasConceptScore W4308133034C160160445 @default.
- W4308133034 hasConceptScore W4308133034C181199279 @default.
- W4308133034 hasConceptScore W4308133034C185592680 @default.
- W4308133034 hasConceptScore W4308133034C2776139714 @default.
- W4308133034 hasConceptScore W4308133034C2776338720 @default.
- W4308133034 hasConceptScore W4308133034C2776489590 @default.
- W4308133034 hasConceptScore W4308133034C2778049618 @default.
- W4308133034 hasConceptScore W4308133034C2778471162 @default.
- W4308133034 hasConceptScore W4308133034C2778573388 @default.
- W4308133034 hasConceptScore W4308133034C2779740938 @default.
- W4308133034 hasConceptScore W4308133034C2780091579 @default.
- W4308133034 hasConceptScore W4308133034C2781145721 @default.
- W4308133034 hasConceptScore W4308133034C2781208988 @default.
- W4308133034 hasConceptScore W4308133034C2911197707 @default.
- W4308133034 hasConceptScore W4308133034C519063684 @default.
- W4308133034 hasConceptScore W4308133034C55493867 @default.
- W4308133034 hasConceptScore W4308133034C71924100 @default.
- W4308133034 hasIssue "Supplement_1" @default.
- W4308133034 hasLocation W43081330341 @default.
- W4308133034 hasLocation W43081330342 @default.
- W4308133034 hasOpenAccess W4308133034 @default.
- W4308133034 hasPrimaryLocation W43081330341 @default.
- W4308133034 hasRelatedWork W2074650037 @default.
- W4308133034 hasRelatedWork W2113051644 @default.
- W4308133034 hasRelatedWork W2914069189 @default.
- W4308133034 hasRelatedWork W2995596813 @default.
- W4308133034 hasRelatedWork W4213015947 @default.
- W4308133034 hasRelatedWork W4283209804 @default.
- W4308133034 hasRelatedWork W4288058052 @default.
- W4308133034 hasRelatedWork W4308133034 @default.
- W4308133034 hasRelatedWork W4309362584 @default.
- W4308133034 hasRelatedWork W934258327 @default.
- W4308133034 hasVolume "6" @default.
- W4308133034 isParatext "false" @default.
- W4308133034 isRetracted "false" @default.
- W4308133034 workType "article" @default.