Abstract |
Hypophosphatasia ( HPP) is a rare disease resulting from alterations of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. We describe a full-term boy diagnosed with perinatal HPP after birth, showing dramatic improvement after treatment with Asfotase Alfa, an enzyme-replacement therapy (ERT) prescribed in HPP cases. He initially presented with respiratory insufficiency due to bone hypomineralization, and severe pulmonary hypoplasia that required tracheostomy and invasive ventilation for 8 months. He was taken off ventilation at 41 weeks of age. He also presented complications including hypercalcemia, craniosynostosis, nephrocalcinosis, hypotonia, and a severe feeding disorder. He is still alive at 30 months of age, and his respiratory status and tonus is steadily improving. This case reflects the progression of HPP patients with specific therapy added to symptomatic management. Some aspects of the disease are now well known, such as nephrocalcinosis and craniosynostosis, related to the natural course of the disease, which persisted despite the ERT. The long-term prognosis and outcome for this newborn child remain unknown.
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Authors | H Rougier, A Desrumaux, N Bouchon, I Wroblewski, I Pin, F Nugues, E Mornet, G Baujat |
Journal | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
(Arch Pediatr)
Vol. 25
Issue 7
Pg. 442-447
(Oct 2018)
ISSN: 1769-664X [Electronic] France |
PMID | 30249491
(Publication Type: Case Reports, Journal Article, Review)
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Copyright | Copyright © 2018 Elsevier Masson SAS. All rights reserved. |
Chemical References |
- Immunoglobulin G
- Recombinant Fusion Proteins
- Alkaline Phosphatase
- asfotase alfa
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Topics |
- Alkaline Phosphatase
(therapeutic use)
- Enzyme Replacement Therapy
(methods)
- Humans
- Hypophosphatasia
(complications, therapy)
- Immunoglobulin G
(therapeutic use)
- Infant, Newborn
- Male
- Recombinant Fusion Proteins
(therapeutic use)
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