Abderhalden-Kaufmann-Lignac syndrome

Synonyms

Abderhalden-Lignac-Kaufmann disease, Nephropathic cystinosis, AKL syndrome,

Overview

Abderhalden-Kaufmann-Lignac syndromeia a rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.

Symptoms

  • Developmental delay
  • Dwarfism
  • Rickets
  • Osteoporosis
  • Renal tubular disease
  • Aminoaciduria
  • Glucose in the urine
  • Low blood potassium levels
  • Cysteine deposits in conjunctiva of eye
  • Cysteine deposits in cornea

Causes

The genetic cause of the disease is not known

Resources

  • NIH