2011 OPEN FORUM Abstracts
INFANTILE HYPOPHOSPHATASIA ASSOCIATED WITH RESPIRATORY INSUFFICIENCY.
Amy Gibbs1, Gary R. Lowe1, Ariel Berlinski1,2; 1Respiratory Care, Arkansas Children's Hospital, Little Rock, AR; 2Dept. of Pediatrics, Pulmonary Medicine Section, University of Arkansas for Medical Sciences, Little Rock, AR
Introduction: We report the successful use of chronic mechanical ventilation (MV) in an infant diagnosed with infantile hypophosphatasia (IHPP) who developed chronic respiratory failure. This case illustrates the patient's presentation, course, and feasibility of use of chronic MV in patients with this condition. Case Summary: Patient is a 3.8 y/o biracial female with family history of adult form of HPP. She was born full term and presented at age 2 months (mo) with poor feeding, hypercalcemia, hyponatremia, and microscopic hematuria. The patient received nutritional supplements, calcitonin and was discharged home. She was diagnosed with IHPP at age 3 mo, and one month later G-tube/Nissen were placed due to failure to thrive. She was hospitalized 5 times during the first 5 mo of life for non-respiratory problems. She was re-admitted at age 6 mo for respiratory and urinary tract infection. She developed respiratory insufficiency, and was started on heated high flow nasal cannula (4LPM/1.0 FIO2). She began having frequent episodes of respiratory distress requiring intubation and MV. Initial ventilator settings were PRVC, rate-25, Vt-40 ml, PEEP-7, and FIO2 -.35. She was tracheostomized at age 8 mo after 2 failed extubations. She was transitioned to LTV at age 15 mo after 5 unsuccessful attempts. She required placement back on Servo 300 at age 19 mo when she acquired RSV lower respiratory tract infection. She transitioned back to the LTV at age 20 mo and was discharged home 2 weeks later on ventilator settings of SIMV-PC/PS, rate-35, PC-18, PS-14, PEEP-6, and O2 -1.5 LPM. She was readmitted one mo later with respiratory infection and acute respiratory failure and changed to the Servo-i. She was treated with antibiotics and transitioned back to the LTV at age 37 mo and discharged 2 weeks later. Discussion: IHPP is a rare inherited disorder (1/100,000 births) characterized by defective bone mineralization. IHPP is diagnosed before age 1 year with onset of symptoms usually occurring within 6 mo and has 50% mortality rate. Diagnosis consists of hypercalcemia, decreased alkaline phosphatase, metaphyseal flaring, enlarged fontanelles, and wide cranial sutures. IHPP is considered fatal secondary to respiratory insufficiency or infection resulting from a defective thoracic bellows system as a result of demineralization of the ribs. This case illustrates that chronic respiratory failure in patients with this condition can be effectively treated with MV.
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