Papillorenal syndrome
Papillorenal syndrome
Papillorenal syndrome (pronunciation: pah-pil-lo-renal sin-drome), also known as renal-coloboma syndrome or Papillorenal dysplasia, is a rare genetic disorder that primarily affects the kidneys and eyes.
Etymology
The term "Papillorenal" is derived from two Latin words: "papilla", meaning 'nipple' or 'teat', and "renal", meaning 'related to kidneys'. The syndrome is named so due to its characteristic effects on the optic nerve (papilla) and kidneys (renal).
Definition
Papillorenal syndrome is characterized by abnormalities in the kidneys (renal dysplasia) and underdevelopment or absence of the optic nerve (optic nerve coloboma). The syndrome is caused by mutations in the PAX2 gene and is inherited in an autosomal dominant manner.
Symptoms
The most common symptoms of Papillorenal syndrome include visual impairment, kidney abnormalities leading to chronic kidney disease, and in some cases, hearing loss. The severity of the symptoms can vary greatly among affected individuals.
Diagnosis
Diagnosis of Papillorenal syndrome is based on clinical examination, imaging studies of the kidneys and eyes, and genetic testing for mutations in the PAX2 gene.
Treatment
Treatment for Papillorenal syndrome is symptomatic and supportive, focusing on managing kidney disease and visual impairment. This may include dialysis or kidney transplantation for kidney disease, and low vision aids or surgery for visual impairment.
Prognosis
The prognosis for individuals with Papillorenal syndrome varies depending on the severity of kidney disease and visual impairment. With appropriate management, many individuals with this syndrome can lead productive lives.
See also
External links
- Medical encyclopedia article on Papillorenal syndrome
- Wikipedia's article - Papillorenal syndrome
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