Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature.
Arch Pediatr
; 25(7): 442-447, 2018 Oct.
Article
in En
| MEDLINE
| ID: mdl-30249491
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Recombinant Fusion Proteins
/
Immunoglobulin G
/
Alkaline Phosphatase
/
Enzyme Replacement Therapy
/
Hypophosphatasia
Type of study:
Prognostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Arch Pediatr
Year:
2018
Document type:
Article