What is Cystinosis?

Cystinosis is an inherited metabolic disorder caused by a deficiency of the lysosomal cystine transporter. This results in the accumulation of the amino acid cystine in the lysosomes of the body’s cells, leading to progressive damage and dysfunction of various organs and tissues.

Symptoms of Cystinosis

The signs and symptoms of cystinosis vary depending on a person's age at the time of diagnosis. Common symptoms of cystinosis include:

  • Dehydration
  • Lack of energy
  • Progressive visual impairment and night blindness
  • Fanconi syndrome––renal tubular acidosis, glucosuria, hypophosphatemia, aminoaciduria, and potassium wasting
  • Renal Fanconi Syndrome or end stage renal disease
  • Muscle wasting
  • Growth retardation
  • Hypothyroidism
  • Skeletal abnormalities
  • Weight loss

Diagnosis and Treatment of Cystinosis

Cystinosis is diagnosed primarily through a skin biopsy that looks for elevated levels of cystine in the cells. Treatment involves cystine-depleting therapy, which helps prevent further kidney damage and other complications. Patients may necessitate dialysis and/or a kidney transplant, as well as physical therapy, speech therapy, and occupational therapy to maintain an optimal quality of life.