Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature

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...

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Bibliographic Details
Published in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2018-10, Vol.25 (7), p.442-447
Main Authors: Rougier, H., Desrumaux, A., Bouchon, N., Wroblewski, I., Pin, I., Nugues, F., Mornet, E., Baujat, G.
Format: Article
Language:English
Subjects:
Alkaline Phosphatase - therapeutic use
Asfotase alfa
Bone hypomineralization
Craniosynostosis
Enzyme Replacement Therapy - methods
Humans
Hypophosphatasia - complications
Hypophosphatasia - therapy
Immunoglobulin G - therapeutic use
Infant, Newborn
Male
Nephrocalcinosis
Perinatal hypophosphatasia
Recombinant Fusion Proteins - therapeutic use
Respiratory insufficiency
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Summary: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.
ISSN:0929-693X
1769-664X
DOI:10.1016/j.arcped.2018.08.002