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Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter

  • M. WesthoffEmail author
  • P. Litterst
Research Report
Part of the JIMD Reports book series (JIMD, volume 5)

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; pO2: 52 mmHg; pCO2: 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; VO2max: 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 H2O. 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.

Keywords

Continuous Positive Airway Pressure Enzyme Replacement Therapy Total Lung Capacity Continuous Positive Airway Pressure Therapy Tracheal Stenosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

6-MWT

Six-minute walk test

AHI

Apnea/hypopnea index

BGA

Blood gas analysis

CPAP

Continuous positive airway pressure

DLCO

Diffusing capacity of the lung for carbon monoxide

FEV1

Forced expiratory volume in 1 s

FVC

Forced vital capacity

GAG

Glycosaminoglycan

IVS

Inter ventricular septum

MPS

Mucopolysaccharidosis

NIV

Noninvasive ventilation

P01

Negative airway pressure

PA syst.

Pulmonary artery systolic pressure

pCO2

Partial pressure of carbon dioxide

Pimax

Maximal inspiration pressure

pO2

Partial pressure of oxygen

TLC

Total lung capacity

VC

Vital capacity

VO2max

Maximum oxygen uptake

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  1. 1.Department of PneumologyHemer Lung ClinicHemerGermany

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