title: Perioperative care of the patient with nephropathic cystinosis.
abstract: Cystinosis is an autosomal recessive disease that results in a defective integral membrane protein responsible for the transport of cystine out of lysosomes. This results in the accumulation of cystine in the lysosomes of almost every tissue, with subsequent formation of damaging crystals. The cystinotic process may affect every system of the body, but is particularly damaging to the kidneys and eyes. We discuss the perioperative care of a cystinotic patient with renal insufficiency, Fanconi's syndrome, and photophobia. Other organ systems affected by the cystinotic process are also discussed, with suggestions for the perioperative management of each. Issues of primary concern during perioperative care include preservation of renal function and maintenance of fluid and electrolyte homeostasis.
authors.affiliation: Department of Child Health, The Division of Pediatric Critical Care/Pediatric Anesthesiology, The University of Missouri, Columbia, MO, USA.
authors.forename: Theresa L
authors.initials: TL
authors.lastname: Ray
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Tobias
mesh_terms: D000768:Anesthesia, General; D003553:Cystine / Q000378:metabolism; D003554:Cystinosis / Q000150:complications*; D005198:Fanconi Syndrome / Q000150:complications; D005260:Female; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000150:complications*; D008964:Molar, Third / Q000601:surgery; D019647:Oral Surgical Procedures; D019990:Perioperative Care; D020795:Photophobia / Q000150:complications; D051437:Renal Insufficiency / Q000150:complications; D014095:Tooth, Impacted / Q000601:surgery; D014882:Water-Electrolyte Balance
chemical_list: D003553:Cystine