title: Infantile cystinosis.
abstract: Ten patients of nephropathic cystinosis were admitted during the period 1995-2000. Their mean age was 12 months. The signs of failure to thrive and advanced rickets were seen in all patients. Other features included polyuria, polydipsia, pathologic fractures and deafness. Laboratory findings included glucosuria, hyposthenuria, hypocalcemia, proteinuria and azotemia. Therapy with phosphocysteamine showed marked clinical improvement.
authors.affiliation: Pediatric Nephrology Unit, Abuzar Children's Medical Center, University of Medical Sciences, Ahvaz, Iran. abuzarhosp-library@yahoo.com
authors.forename: M
authors.initials: M
authors.lastname: Mirdehghan
authors.forename: A
authors.initials: A
authors.lastname: Ahmadzadeh
authors.forename: M
authors.initials: M
authors.lastname: Bana-Behbahani
authors.forename: Ismail
authors.initials: I
authors.lastname: Motlagh
authors.forename: Bashir
authors.initials: B
authors.lastname: Chomali
mesh_terms: D000141:Acidosis, Renal Tubular / Q000209:etiology*; D000963:Antimetabolites / Q000627:therapeutic use; D003241:Consanguinity; D003539:Cystaphos / Q000627:therapeutic use; D003554:Cystinosis / Q000150:complications* / Q000188:drug therapy / Q000401:mortality; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D007492:Iran / Q000453:epidemiology; D008297:Male; D012189:Retrospective Studies; D012279:Rickets / Q000209:etiology; D016896:Treatment Outcome
chemical_list: D000963:Antimetabolites; D003539:Cystaphos