title: Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunter.
abstract: M. Hunter is characterized by an accumulation of mucopolysaccharides in cells, blood, and connective tissue as a consequence of a deficiency of the enzyme iduronate-2-sulfatase. Unlike enzyme replacement therapy with idursulfase in children, there is limited long-term experience in adult patients with Morbus Hunter.The case presented here describes the development of a man born in 1971 who was admitted to Hemer Lung Clinic in 2005 with severe obstructive sleep apnea, pulmonary functional impairment, and ventilatory failure (FEV 1: 0.8 L, VC: 1.0 L; pO(2): 52 mmHg; pCO(2): 81 mmHg, 6 MWT: 100 m). Initially, the patient received symptomatic treatment with noninvasive ventilation, which achieved a considerable improvement in pulmonary function and a normalization of blood gasses. Since February 2008, the patient received additional enzyme replacement therapy with idursulfase, which resulted in a further significant functional improvement (FEV1: 1.6; VC: 2.3 L; VO(2)max: 1,350 mL or 28.1 mL/kg body weight), in a normalization of prior elevated pulmonary artery pressures and also in impressive changes in the physiognomy and joint mobility. In November 2010, the polysomnography and nocturnal blood gas analysis without NIV showed only a mild obstructive sleep-related breathing disorder with no sign of hypoventilation. Therapy was changed to nocturnal CPAP therapy with a constant pressure of 6 cm H(2)O. Additional administration of oxygen was not required. With this therapy, the patient has been asymptomatic up to September 2011.Adult Hunter patients also benefit from enzyme replacement therapy and, in restrictive ventilatory defects with hypoventilation, from symptomatic therapy with noninvasive ventilation.
authors: Department of Pneumology, Hemer Lung Clinic, Hemer, 58675, Germany, Michael.Westhoff@lkhemer.de.
authors: M
authors: M
authors: Westhoff
authors: P
authors: P
authors: Litterst