title: Successful treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilation.
abstract: Cystinosis is a rare metabolic disorder characterized by lysosomal cystine accumulation leading to multi-organ damage, with kidneys being clinically first affected. Longer survival of cystinosis patients due to successful renal replacement therapy, revealed previously unknown extra-renal symptoms of cystinosis, generally appearing after the first decade. Respiratory insufficiency caused by overall respiratory muscle myopathy is a severely invalidating and sometimes a life-threatening complication of cystinosis. We report a successful treatment of hypoventilation, due to diaphragm myopathy in a cystinosis patient, by nocturnal non-invasive positive pressure ventilation (NIPPV). After initiation of NIPPV the clinical condition of the patient improved and blood-gasses normalized, indicating that this treatment modality should be considered in cystinosis patients with severe respiratory insufficiency.
authors.affiliation: University Department of Human Movement Sciences, University Medical Center Groningen, Groningen, The Netherlands. m.a.edens@epi.umcg.nl
authors.forename: M A
authors.initials: MA
authors.lastname: Edens
authors.forename: W J
authors.initials: WJ
authors.lastname: van Son
authors.forename: M H G
authors.initials: MH
authors.lastname: de Greef
authors.forename: E N
authors.initials: EN
authors.lastname: Levtchenko
authors.forename: T
authors.initials: T
authors.lastname: Blijham
authors.forename: P J
authors.initials: PJ
authors.lastname: Wijkstra
mesh_terms: D000328:Adult; D001784:Blood Gas Analysis; D003554:Cystinosis / Q000150:complications*; D006801:Humans; D008297:Male; D011175:Positive-Pressure Respiration / Q000379:methods*; D012120:Respiration Disorders / Q000150:complications* / Q000628:therapy*; D012143:Respiratory Physiological Phenomena; D016683:Supine Position