Nail Patella Syndrome - Causes, Symptoms And Treatment of Nail Patella Syndrome
What is Nail Patella Syndrome?
Nail Patella Syndrome is a genetic disorder of the connective tissue that produces defects in the fingernails, kneecaps and kidneys. Nail Patella Syndrome (also called Fong's Disease is characterized hereditary Onycho-Osteodysplasia ['Hood'] by some typical malformations of the arms and legs as well as kidney disease and glaucoma. The hallmark features of nail patella syndrome are bad fingernails, toe nails, develops and patellae (kneecaps) . Other common abnormalities elbow deformities, abnormally shaped pelvis bone (hip bone) and kidney (renal) disease.
The incidence of nail-patella syndrome is approximately one in 50,000 births. This disease affects men and women alike. It is found all over the world and occurs in all ethnic groups.What are the causes of Nail Patella Syndrome?
been * Nail-patella syndrome as a genetic disease for over 100 years recognized. It is is caused by mutations in a gene as LIM Homeobox Transcription Factor 1-beta (LMX1B), on the long arm of chromosome 9 causes.
* If a parent has nail-patella syndrome each of their children have a 50% chance of inheriting the disease-causing mutation. A new mutation causing nail patella syndrome may also occur, causing disease in a person with no family history.
* The finger nail abnormalities seem to vary enormously. Some people have brittle, underdeveloped, cracked or ridged nails, while others are missing. They are often concave, so to split it, flip it and catch on clothing, bedding, etc.
What are the symptoms of Nail Patella Syndrome?
People with nail-patella syndrome may show little or a lot of the recognized signs of this disease. The symptoms vary from person to person. Some of the most common symptoms of Nail Patella syndrome are: -
* The most obvious sign with nail-patella syndrome absent, weak or unusual fingernails.
* Fingernails may be small and concave with pitting, ridges, cracks and / or discoloration.
* The knees of people with nail-patella syndrome, a square appearance.
* Loss of peripheral (side) vision.
* Difficulties in adjusting to a dark room.
* Appearance of halos or rainbows around lights.
* Severe headache, nausea and eye pain in rare cases.
Treatment for Nail Patella Syndrome
The treatment is usually not necessary. In cases where renal disease is involved, the kidney disease by dialysis or a kidney transplant is treated.
Specific therapies for the treatment of NPS are symptomatic and supportive. In some cases, the treatment for bone abnormalities associated surgical replacement of the patella with artificial devices (prosthetics) and / or reconstruction of hypoplastic bone in the knee and elbow areas or belong. In general, glaucoma can not be cured but it can be controlled. Eye drops, pills, laser procedures and operations are used to prevent or slow down to avoid further damage.
Nail Patella Syndrome is a genetic disorder of the connective tissue that produces defects in the fingernails, kneecaps and kidneys. Nail Patella Syndrome (also called Fong's Disease is characterized hereditary Onycho-Osteodysplasia ['Hood'] by some typical malformations of the arms and legs as well as kidney disease and glaucoma. The hallmark features of nail patella syndrome are bad fingernails, toe nails, develops and patellae (kneecaps) . Other common abnormalities elbow deformities, abnormally shaped pelvis bone (hip bone) and kidney (renal) disease.
The incidence of nail-patella syndrome is approximately one in 50,000 births. This disease affects men and women alike. It is found all over the world and occurs in all ethnic groups.What are the causes of Nail Patella Syndrome?
been * Nail-patella syndrome as a genetic disease for over 100 years recognized. It is is caused by mutations in a gene as LIM Homeobox Transcription Factor 1-beta (LMX1B), on the long arm of chromosome 9 causes.
* If a parent has nail-patella syndrome each of their children have a 50% chance of inheriting the disease-causing mutation. A new mutation causing nail patella syndrome may also occur, causing disease in a person with no family history.
* The finger nail abnormalities seem to vary enormously. Some people have brittle, underdeveloped, cracked or ridged nails, while others are missing. They are often concave, so to split it, flip it and catch on clothing, bedding, etc.
What are the symptoms of Nail Patella Syndrome?
People with nail-patella syndrome may show little or a lot of the recognized signs of this disease. The symptoms vary from person to person. Some of the most common symptoms of Nail Patella syndrome are: -
* The most obvious sign with nail-patella syndrome absent, weak or unusual fingernails.
* Fingernails may be small and concave with pitting, ridges, cracks and / or discoloration.
* The knees of people with nail-patella syndrome, a square appearance.
* Loss of peripheral (side) vision.
* Difficulties in adjusting to a dark room.
* Appearance of halos or rainbows around lights.
* Severe headache, nausea and eye pain in rare cases.
Treatment for Nail Patella Syndrome
The treatment is usually not necessary. In cases where renal disease is involved, the kidney disease by dialysis or a kidney transplant is treated.
Specific therapies for the treatment of NPS are symptomatic and supportive. In some cases, the treatment for bone abnormalities associated surgical replacement of the patella with artificial devices (prosthetics) and / or reconstruction of hypoplastic bone in the knee and elbow areas or belong. In general, glaucoma can not be cured but it can be controlled. Eye drops, pills, laser procedures and operations are used to prevent or slow down to avoid further damage.
0 comments:
Post a Comment