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Renal

Clinical snapshot

In a natural history study of patients ≤5 years of age with hypophosphatasia (HPP)1,a:

52% (16/31) of patients had nephrocalcinosis

Patients with hypophosphatasia (HPP) can suffer from profound renal manifestations.2-6

In hypophosphatasia, defective bone mineralization and impaired regulation of phosphate and calcium can result in renal manifestations.2-5

Patients with hypophosphatasia may experience2-4

Hypercalcemia
Hypercalciuria
Hyperphosphatemia

Elevation of calcium can result in2,4,5

Nephrocalcinosis
Renal damage, which may be severe

Systemic manifestations of hypophosphatasia can include severe renal damage and renal failure.2,4,5

aData from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients with severe perinatal- and infantile-onset hypophosphatasia ≤5 years of age.1

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References:
  1. Whyte MP, Leung E, Wilcox W, et al; for Study 011-10 Investigators. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at: 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting; May 3-6, 2014; Vancouver, BC.
  2. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  3. Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP. Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine. 1984;63(1):12-24.
  4. Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr. 2011;100(7):e43-e46.
  5. Eade AWT, Swannell AJ, Williamson N. Pyrophosphate arthropathy in hypophosphatasia. Ann Rheum Dis. 1981;40(2):164-170.
  6. Cundy T, Michigami T, Tachikawa K, Dray M, Collins J. Phenotypic change in a patient with hypophosphatasia with the onset of renal failure. Paper presented at: 40th Annual Congress of the European Calcified Tissue Society (ECTS); May 18-21, 2013; Lisbon, Portugal.
  7. Barvencik F, Beil FT, Gebauer M, et al. Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis. Osteoporos Int. 2011;22(10):2667-2675.