Hypophosphatemic Bone Disease Research Articles

ODP568 Success of CME at Improving Knowledge, Competence and Confidence Related to Diagnosing and Treating Hypophosphetemic Bone Disease

Abstract Introduction We sought to determine if an online continuing medical education (CME) activity could improve knowledge and competence of endocrinologists (endos) and rheumatologists (rheums) related to diagnosis and treatment of patients with hypophosphatemic bone disease. Methods The effect of an online, 30-minute, CME-certified roundtable discussion among 3 faculty was analyzed to determine efficacy. The activity posted November 4, 2020, and data were collected through February 4, 2021. Results Overall, 33% of endo learners and 48% of rheum learners improved their knowledge/competence. Conclusions This study demonstrates the success of an online 30-minute roundtable discussion on improving knowledge, competence, and confidence regarding diagnosis and treatment of hypophosphatemic bone disease, with gaps identified for future education. Presentation: No date and time listed

Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation.

In this article, we describe the long-term outcomes of children who were previously reported to have developed hypophosphatemic bone disease in association with elemental formula use. An extended chart review allowed for an updated report of 34 children with regard to severity/duration of bone disease, extent of recovery, and time to correction using radiology reports and biochemical data. After implementation of formula change and/or phosphate supplementation, we found that serum phosphorus concentration increased and serum alkaline phosphatase activity decreased in all patients, normalizing by 6.6 ± 4.0 (mean ± SD) months following diagnosis. The decrease in serum alkaline phosphatase from diagnosis to the time of correction was moderately correlated with the concurrent increase in serum phosphorus (R = 0.48, P < .05). Age at diagnosis significantly correlated with time to resolution (R = 0.51, P = .01). This study supports the earlier report that bone disease associated with hypophosphatemia during elemental formula use responds to formula change and/or phosphate supplementation.

Characterization by bone histology of hypophosphatemic vs vitamin-D deficiency bone disease

Characterization by bone histology of hypophosphatemic vs vitamin-D deficiency bone disease

Characterization by bone histology of hypophosphatemic vs vitamin-D deficiency bone disease

Characterization by bone histology of hypophosphatemic vs vitamin-D deficiency bone disease

Localization of a Renal Sodium-Phosphate Cotransporter Gene to Human Chromosome 5q35

Several Mendelian disorders of renal phosphate reabsorption, associated with hypophosphatemia and bone disease, have been described. These include X-linked hypophosphatemia (XLH), hereditary hypophosphatemic rickets with hypercalciuria, hypophosphatemic bone disease, and autosomal dominant and autosomal recessive hypophosphatemic rickets. The underlying mechanisms for renal phosphate wasting in these disorders remain unknown. The proximal tubule is the major site of renal phosphate reabsorption. Thus, mutations in genes that participate in the transepithelial transport of phosphate in this segment of the nephron may be responsible for these disorders. Recently, a cDNA encoding a renal proximal tubular, brush-border membrane Na[sup +]-phosphate cotransporter (NaP[sub i]-3) was cloned from human kidney cortex. As a first step in establishing whether mutations in the NaP[sub i]-3 gene are the cause of inherited disorders in phosphate homeostasis, the authors sought to determine its chromosomal localization. 9 refs., 1 fig.

Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: Further evidence that they are different diseases

Oral examinations were performed on 5 patients with hypophosphatemic bone disease (HBD) (2 males and 3 females), 14 patients with X-linked hypophosphatemia (XLH), and 4 affected XLH relatives (6 males and 12 females). The control subjects were the unaffected siblings and parents of the patients and unrelated healthy, gender- and age-matched subjects. Serum phosphorus values were the same by disease type and gender in patients with HBD and XLH. They shared certain dental abnormalities, in particular pulpal necrosis and large pulp spaces. However, only patients with XLH had Class III malocclusions and mild enamel defects, and males with XLH had more severe occlusal and enamel defects than females with XLH. Different dental phenotypes are further evidence that XLH and HBD are different diseases. The dental abnormalities were not prevented by treatment, instituted early in life, which raised serum phosphorus to the near normal range.

Audiologic findings in young patients with hypophosphatemic bone disease.

Audiometric tests were conducted on 19 subjects with hypophosphatemic bone disease to investigate whether auditory impairment like that reported in affected adults occurs in young patients. No hearing loss or significant auditory findings were noted among the children or young adult patients. However, sensorineural hearing loss of cochlear origin was identified in the three oldest subjects (40 to 58 years), although a history of noise exposure in two of them could explain the observations. The results indicate that if an association exists between hypophosphatemic bone disease and hearing impairment, the auditory signs will not develop until adulthood in treated patients. Additional studies of large populations of affected adults are needed to identify the incidence and mechanism(s) of the auditory system abnormalities and to assess any effect of medical therapy for the metabolic bone disease.

Renal ultrasound in metabolic bone disease.

Fifty-one patients aged 1 year to 56 years with metabolic bone disease underwent renal ultrasound. Medullary nephrocalcinosis was found in nine of 24 patients with X-linked hypophosphatemic rickets and is considered to be iatrogenic, related to vitamin D therapy. Another three in this group of 24 with both medullary and cortical increased renal echogenicity had suffered from repeated episodes of vitamin D intoxication and had secondary hyperparathyroidism. Nephrocalcinosis was less frequent in patients with treated vitamin D-dependent rickets or hypophosphatemic bone disease where generally smaller doses of vitamin D are given. Patients with pseudohypoparathyroidism, on small doses of vitamin D, had a normal renal ultrasound. In cystinosis and Fanconi's syndrome, the kidneys are small, echodense (both the cortex and medulla) with a tendency to cyst formation.

Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone Disease

The serum concentration of 1,25-dihydroxylvitamin D (1,25-[OH]2D) in normal children and in children with inherited diseases of bone was compared by use of a competitive binding assay. Observed values were: in 12 normal children and adolescents, 37.1 +/- 1.9 pg per milliliter (mean +/- S.D.); in 14 patients with X-linked hypophosphatemic rickets treated with vitamin D2 and phosphate supplements, 15.6 +/- 7.8 (P less than 0.01 versus control); in six patients with autosomal recessive vitamin D dependency treated with vitamin D2, 9.5 +/- 2.9 (P less than 0.01 versus control); and in four untreated patients with autosomal dominant hypophosphatemic (non-rachitic) bone disease, 30.2 +/- 6.3 (not significantly different from the controls). The difference in bone disease between X-linked hypophosphatemia (severe) and hypophosphatemic bone disease (mild) at comparable low serum levels of phosphate implies that 1,25-(OH)2D and phosphate may have independent roles in the pathogenesis of defective bone mineralization.

Hereditary Hypophosphatemic Bone Disease

Hereditary Hypophosphatemic Bone Disease