Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy.

Pediatric Pulmonology
E RodriguezThomas H Shaffer

Abstract

Hypophosphatasia is a rare autosomal recessive disorder caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP) and characterized by defective bone mineralization. In the perinatal lethal form, respiratory complications due to rachitic deformities of the thoracic cage and associated hypoplastic lungs are present. ENB-0040 is a bone-targeted human recombinant TNSALP fusion protein that aims to restore skeletal mineralization. The goal of this study was to characterize pulmonary and thoracic cage mechanics in an infant with the perinatal lethal form of hypophosphatasia under enzyme replacement therapy. Pulmonary function testing was performed on a preterm, 8-week-old patient with hypophosphatasia who was mechanically ventilated since birth because of severe chest wall insufficiency. The measurements consisted of respiratory impulse oscillation measurements (resistance and reactance), ventilatory mechanics (compliance and resistance), and thoracoabdominal motion (TAM) analysis. At baseline, chest wall compliance was 50% of normal, and the TAM indicated predominantly abdominal displacement. After 12 weeks of treatment, a consistent decrease in ventilator requirements and improvement in lung function and che...Continue Reading

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Jun 25, 2010·Pediatric Pulmonology·M E RodriguezThomas H Shaffer

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Citations

Aug 28, 2013·Journal of Inherited Metabolic Disease·Hirotaka OikawaWilliam S Sly
Nov 23, 2015·Calcified Tissue International·José Luis Millán, Michael P Whyte
Feb 20, 2016·Nature Reviews. Endocrinology·Michael P Whyte
Aug 8, 2015·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·M L Bianchi
Sep 14, 2016·Metabolism: Clinical and Experimental·Thomas J WeberPriya S Kishnani
Nov 1, 2016·Der Internist·T SchmidtF Barvencik
Jul 13, 2018·Pediatric Pulmonology·Abigail StrangThomas H Shaffer
Feb 21, 2019·International Journal of Oral Science·En LuoQianming Chen
Jan 14, 2017·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Michael P Whyte
Aug 8, 2018·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Maki OyachiNoriyuki Namba
Dec 5, 2018·Medicine·Laura CastellsMaría L Couce
Aug 9, 2020·Orphanet Journal of Rare Diseases·Raja PadidelaHoward M Saal
Sep 28, 2017·Respiratory Medicine·Deepthi Alapati, Thomas H Shaffer

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