Renal coloboma syndrome
Renal Coloboma Syndrome
Renal coloboma syndrome (pronunciation: /rɪˈnæl kɒləˈboʊmə sɪnˈdroʊm/), also known as Papillorenal syndrome, is a rare genetic disorder characterized by kidney abnormalities and optic nerve defects. The term "renal" refers to the kidneys, while "coloboma" refers to a gap or defect in the structure of the eye.
Etymology
The term "renal coloboma syndrome" is derived from the Latin word "renalis" meaning "pertaining to the kidneys" and the Greek word "koloboma" meaning "a defect or a gap". The term "syndrome" is derived from the Greek word "syndromē" meaning "concurrence of symptoms, concourse of people".
Symptoms
The primary symptoms of renal coloboma syndrome include renal dysplasia (abnormal kidney development), hypoplasia (underdevelopment) or agenesis (absence) of the kidneys, and coloboma of the optic nerve. Other symptoms may include hearing loss, heart defects, and intellectual disability.
Causes
Renal coloboma syndrome is caused by mutations in the PAX2 gene. This gene provides instructions for making a protein that is involved in the formation of the kidneys and the optic nerve.
Diagnosis
Diagnosis of renal coloboma syndrome is based on clinical examination, genetic testing, and imaging studies such as ultrasound and magnetic resonance imaging (MRI).
Treatment
Treatment for renal coloboma syndrome is symptomatic and supportive. It may include dialysis or kidney transplantation for kidney failure, and vision therapy or surgery for eye abnormalities.
Related Terms
External links
- Medical encyclopedia article on Renal coloboma syndrome
- Wikipedia's article - Renal coloboma syndrome
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