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