Infantile cystinosis

Indian Pediatr. 2003 Jan;40(1):21-4.

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.

MeSH terms

  • Acidosis, Renal Tubular / etiology*
  • Antimetabolites / therapeutic use
  • Consanguinity
  • Cystaphos / therapeutic use
  • Cystinosis / complications*
  • Cystinosis / drug therapy
  • Cystinosis / mortality
  • Failure to Thrive / etiology
  • Female
  • Humans
  • Infant
  • Iran / epidemiology
  • Male
  • Retrospective Studies
  • Rickets / etiology
  • Treatment Outcome

Substances

  • Antimetabolites
  • Cystaphos