Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria

Abstract

A 14-year-old boy presented with the clinical and radiological features of rickets. Serum inorganic phosphate levels were constantly low, whereas serum calcium and parathyroid hormone levels were within the normal range. Laboratory investigation did not show any evidence for vitamin-D deficiency, chronic renal insufficiency, Fanconi syndrome, tubular acidosis, hepatic disease or intestinal malabsorption. A family study comprising 34 members over four generations revealed 10 other individuals to be affected and the mode of inheritance to be autosomal dominant. In addition to hypophosphataemia and normocalcaemia, the diasease is characterized by elevated serum 1,25 dihydroxyvitamin D levels and hypercalciuria. This hereditary syndrome of renal hypophosphataemia differs from the common familial X-linked hypophosphataemia and the recently described autosomal recessive hypophosphataemic rickets with hypercalciuria by its dominant mode of inheritance; it differs from hypophosphataemic non-rachitic bone disease by the elevated serum 1,25 dihydroxyvitamin D levels and hypercalciuria.

This is a preview of subscription content, log in to check access.

References

  1. 1.

    Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH (1958) A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. Medicine 37: 97–142

  2. 2.

    Scriver CR, Reade TM, DeLuca HF (1978) Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med 299: 976–979

  3. 3.

    Chesney RW, Mazess RB, Rose P, Hamstra AJ, Deluca HF, Breed AL (1983) Long-term influence of calcitriol and supplemental phosphate in X-linked hypophosphatemic rickets. Pediatrics 71: 559–567

  4. 4.

    Greenberg BG, Winters RW, Graham JB (1960) The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis of congenital hypophosphatemia. J Clin Endocrinol Metab 20: 364–379

  5. 5.

    Bouillon R, Koninckx P, De Moor P (1974) A radioimmunoassay for serum parathyroid hormone: methods and clinical application. In: Radioimmunoassay and related procedures in medicine, vol 1. International Atomic Energy Agency, Vienna, pp 353–365

  6. 6.

    Bouillon R, Van Kerckhove P, De Moor P (1976) The measurement of 25-hydroxyvitamin D3 in serum. Clin Chem 22: 364–368

  7. 7.

    Bouillon R, De Moor P, Baggiolini EG, Uskokovic MR (1980) A radioimmunoassay for 1,25-dihydroxycholecalciferol. Clin Chem 26: 562–567

  8. 8.

    Bouillon R, Van Baelen H, De Moor F (1977) The measurement of vitamin D-binding protein in human serum. J Clin Endocrinol Metab 5: 225–231

  9. 9.

    Walling MW (1977) Intestinal calcium and phosphate transport: differential response to vitamin D3 metabolites. Am J Physiol 233: 488–494

  10. 10.

    Raisz LG (1980) Direct effects of vitamin D and its metabolites on skeletal tissue. Clin Endocrinol Metab 9: 27–41

  11. 11.

    Albright F, Butler AM, Bloomberg E (1937) Rickets resistant to vitamin D therapy. Am J Dis Child 54: 529–547

  12. 12.

    Scriver CR, MacDonald W, Reade T, Glorieux FH, Nogrady B (1977) Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement and inheritance. Am J Med Genet 1: 101–117

  13. 13.

    Tieder M, Modai D, Samuel R, Arie R, Halabi A, Bab I, Gabizon D, Liberman UA (1985) Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312: 611–617

  14. 14.

    Bianchine JW, Stambler AA, Harrison HE (1971) Familial hypophosphatemic rickets showing autosomal dominant inheritance. In: Bergsma D (ed) The clinical delineation of birth defects. X. The endocrine system. Williams and Wilkins, Baltimore, pp. 287–295

Download references

Author information

Correspondence to Willem C. Proesmans.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Proesmans, W.C., Fabry, G., Marchal, G.J. et al. Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. Pediatr Nephrol 1, 479–484 (1987). https://doi.org/10.1007/BF00849257

Download citation

Key words

  • Hypophosphataemia
  • Hereditary nephropathies
  • Rickets
  • Hypercalciuria
  • Vitamin D