Alsing syndrome

Synonyms

1

Overview

A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.

Symptoms

  • Macular coloboma
  • Skeletal abnormality
  • Thickening of kidney filtration tissues
  • Polyuria
  • Enuresis
  • Polydipsia
  • Inability to concentrate urine
  • Kidney failure
  • Metabolic acidosis
  • Anemia
  • Growth retardation
  • Renal salt wasting
  • Impaired kidney function

Resources

  • NIH