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Abderhalden-Kaufmann-Lignac syndrome

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 - Abderhalden-Kaufmann-Lignac syndrome

  • 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 - Abderhalden-Kaufmann-Lignac syndrome

The genetic cause of the disease is not known

Prevention - Abderhalden-Kaufmann-Lignac syndrome

Not supplied.

Diagnosis - Abderhalden-Kaufmann-Lignac syndrome

Not supplied.

Prognosis - Abderhalden-Kaufmann-Lignac syndrome

Not supplied.

Treatment - Abderhalden-Kaufmann-Lignac syndrome

Not supplied.

Resources - Abderhalden-Kaufmann-Lignac syndrome

  • NIH
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