Title: Successful treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilation
Authors: Edens, M A ×
van Son, W J
de Greef, M H G
Levtchenko, Elena
Blijham, T
Wijkstra, P J #
Issue Date: Oct-2006
Series Title: Clinical nephrology vol:66 issue:4 pages:306-9
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.
ISSN: 0301-0430
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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