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Respiratory

Severe hypomineralization of the rib cage can lead to fatal respiratory manifestations.1,2

Defective bone mineralization in hypophosphatasia (HPP) can cause rachitic chest, resulting in decreased thoracic volume and pulmonary hypoplasia.1,3-5

Severe respiratory manifestations of hypophosphatasia range from progressive respiratory insufficiency to respiratory failure3-5
  • Respiratory failure is the most common cause of death in infants with hypophosphatasia1,3

In patients with hypophosphatasia, the need for invasive respiratory support usually results in a fatal outcome.8

Patients with hypophosphatasia with respiratory insufficiency often require intubation, mechanical ventilation, and/or oxygen support.8

In a natural history study of patients ≤5 years of age with hypophosphatasia (N=48)8,b:

64% (29/45) of patients with hypophosphatasia required respiratory support, most commonly invasive ventilation (mechanical ventilation via intubation or tracheostomy)
  • 95% (18/19) of patients who required invasive ventilation died

aRadiographs are from different patients with hypophosphatasia.

bData 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.8

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References:
  1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  2. Whyte MP. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 4. 8th ed. New York, NY: McGraw-Hill; 2001:5313-5329.
  3. Baumgartner-Sigl S, Haberlandt E, Mumm S, et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone. 2007;40(6):1655-1661.
  4. Balasubramaniam S, Bowling F, Carpenter K, et al. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis. 2010;33(3):25-33.
  5. Silver MM, Vilos GA, Milne KJ. Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr Pathol. 1988;8(5):483-493.
  6. Rodriguez E, Bober MB, Davey L, et al. Pediatr Pulmonol. 2012;47(9):917-922.
  7. Simmons JH. Best practices in: recognizing and diagnosing hypophosphatasia. Clinical Endocrinology News website. http://www.mdedge.com/sites/default/files/issues/articles/Alexion_10_11_Final_Web.pdf. Published September 30, 2013. Accessed October 26, 2017.
  8. 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.