Lesch- Nyhan Syndrome
Kayla Lester
Virginia Western Community College
Abstract
Lesch-Nyhan syndrome is a genetic disease that is inherited from an offspring’s mother. A patient is typically diagnosed between the ages of three to six months with Nyhan’s syndrome. Since this is such a rare disease there is only a one in three hundred and eighty thousand chance a person would be diagnosed with this disease. It is equally seen in all ethnic group but it is more likely for males than females due to the mutation being linked to an X-chromosome. The three biggest concerns with the disease are; overproduction of uric acid, behavioral problems, and neurological disabilities. The first signs of Lesch-Nyhan is the child’s slow ability to sit up and …show more content…
Since the disease is genetic, there is a possibility I’ve been in contact with a carrier of Nyhan’s Syndrome but I nor anyone else would not be aware unless a patient told someone. If I were to perform an exam on a patient with the disease, I suspect it would be very difficult and could be very time consuming. The patient may not be able to hold certain positions or follow breathing instructions for an abdomen x-ray. In the case that the patient was an infant or young child, a parent may need to be present to help keep the child calm and hold them in an adequate positon. Patients with Lesch-Nyhan’s syndrome may become very irritable or aggressive toward the technologist during an exam, it would be very beneficial to have two technologist in the exam room for any witnessing issues. Just like any patient, it is very crucial to treat all patients the same even if they are unable to communicate like other patients or may not be as easy to work with. Lesch- Nyhan’s Syndrome is not something a patient could have prevented for themselves and though they don’t have a long life to live it is our job as healthcare staff to help them and help them in the little time they do
Kayla Lester
Virginia Western Community College
Abstract
Lesch-Nyhan syndrome is a genetic disease that is inherited from an offspring’s mother. A patient is typically diagnosed between the ages of three to six months with Nyhan’s syndrome. Since this is such a rare disease there is only a one in three hundred and eighty thousand chance a person would be diagnosed with this disease. It is equally seen in all ethnic group but it is more likely for males than females due to the mutation being linked to an X-chromosome. The three biggest concerns with the disease are; overproduction of uric acid, behavioral problems, and neurological disabilities. The first signs of Lesch-Nyhan is the child’s slow ability to sit up and …show more content…
Since the disease is genetic, there is a possibility I’ve been in contact with a carrier of Nyhan’s Syndrome but I nor anyone else would not be aware unless a patient told someone. If I were to perform an exam on a patient with the disease, I suspect it would be very difficult and could be very time consuming. The patient may not be able to hold certain positions or follow breathing instructions for an abdomen x-ray. In the case that the patient was an infant or young child, a parent may need to be present to help keep the child calm and hold them in an adequate positon. Patients with Lesch-Nyhan’s syndrome may become very irritable or aggressive toward the technologist during an exam, it would be very beneficial to have two technologist in the exam room for any witnessing issues. Just like any patient, it is very crucial to treat all patients the same even if they are unable to communicate like other patients or may not be as easy to work with. Lesch- Nyhan’s Syndrome is not something a patient could have prevented for themselves and though they don’t have a long life to live it is our job as healthcare staff to help them and help them in the little time they do