کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
11008311 | 1840459 | 2018 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature
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کلمات کلیدی
HPPCPAPnephrocalcinosis - NephrocalcinosisAsfotase alfa - آسفاتاز آلفاEnzyme-replacement therapy - آنزیم جایگزین درمانContinuous positive airway pressure - فشار جریان هوای همواره مثبتrespiratory insufficiency - نارسایی تنفسیERT - هستندhypophosphatasia - هیپوفسفاتزیCraniosynostosis - کرانیوسینوستوز، جوشخوردن جمجمه
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
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چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Archives de Pédiatrie - Volume 25, Issue 7, October 2018, Pages 442-447
Journal: Archives de Pédiatrie - Volume 25, Issue 7, October 2018, Pages 442-447
نویسندگان
H. Rougier, A. Desrumaux, N. Bouchon, I. Wroblewski, I. Pin, F. Nugues, E. Mornet, G. Baujat,