Lady 52 years old gets the rare hereditary disease

Lady 52 years old gets the rare hereditary disease Eyes " It is long " Appear " The gold finger-ring "
The 52 -year-old women in Dongyang lie on the provincial sick bed of the hospital with one mind in Zhejiang in conformity with lady, have already fallen into hepatic coma for quite some time; Wake up once in a while, will lose control of the trick is shaken arbitrarily; Open one's mouth and speak reluctantly, but can not sound.

Yesterday (the 23rd) ,See and interview, call the reporter to speak outside the ward at once in conformity with lady's son: "Must not let mother hear, it is sedative that works now, we speak, she can hear, but will surmise talks maliciously, so we thought it was her spirit that gone wrong at the beginning. "

"Mother did not finish beginning the body more than 10 years ago. Hands trembled terribly at that time, we went to the hospital of native place to check, said it may be Parkinson's disease. However, since last month, she has liked contracting on the stair, remains silent; Speak ill of people in the village repeatedly. People become so strange, we take her to the hospital to check, say the liver is not good. Not in a few days, mother, unexpectedly even meal is unwilling to eat, people are getting weak quickly. The doctor of the county hospital advises us to send her to the large hospital to check at once. " Her son tells reporters.

Family Israel in conformity with lady " Psychosis " Conjecture,send into Zhejiang provincial with one mind hospital emergency ward. Because find such symptoms as she has tricks that trembles, have changed her over to the department of neurosurgery in the emergency ward, in order to get rid of disease of the nervous system. This one checks, find a kind of rare hereditary disease.

"Look, gold finger-ring! "

Neural head of the department of internal medicine Hu ZhiWei shines her eyes with the flashlight: "Look, gold finger-ring! "

What the doctor said is a golden circle in conformity with women white of the eye and eyes were black - -This is deposited and taken shape on the edge of cornea of copper ion, seem, just like a small gold finger-ring.

"A characteristic that this is ' liver lenticular nucleus changes the sex '. " Hu ZhiWei says, other inspection results, have verified this: Have presented the state that serious liver function damages in conformity with lady; The serum covellite albumen in her blood, is only 0.09 / each; And the normal value should be in 0.2- 2.0 / each; The cranium brain CT check, reveal, the lenticular nucleus district of her brain, have unusual low density shadows, the cerebral cortex begins to wither too.

Combine the intersection of she and the intersection of spirit and unusual state, one that is in conformity with Ms. " the liver lenticular nucleus changes the sex " ,Already very serious, " if can find earlier, perhaps the therapeutic effect will be much better. " Hu ZhiWei says.

1/10000 morbidity

" the liver lenticular nucleus changes the sex " ,One recessive hereditary disease, the intersection of ATP7B and genetic disappearance, cause copper ion deposit, cause in liver, commonly called as copper being poisoned.

This kind of disease is very rare, the morbidity in the crowd is 5/100,000~10; The morbidity in Asia philtrum is a little bit higher. "This is the first ' liver lenticular nucleus change the sex ' which our hospital ran into. " Hu ZhiWei estimate mao, nearly half this kind of patient are all digesting the department and spinning, treat this disease as the hepatopathy treatment.

"To be simple, this disease carries the serum covellite albumen of copper ion to reduce in the body, we are unable to discharge through the covellite albumen of serum from copper ion that is taken in in the diet every day, then deposit to areas such as the liver, cornea, brain lenticular nucleus,etc., produce the chemical reaction to the organ around, thus initiate hepatopathy, cerebral cortex to wither, display on the body, the trick tremble, thinking is unusual, liver function is unusual. " Hu ZhiWei says, this disease can't effect a radical cure at present, but through driving copper treating and low copper diet, can maintain the life. Stop, take medicine, possible damaged death of organ.

The son carries the hereditary gene too

Hu ZhiWei proposes checking too, will it suffer from " the liver lenticular nucleus will change the sex " to see in conformity with lady's son . This guy who just graduated from university for 2 years put down and had half the Braised Fish with Preserved Vegetable, tell reporters: "The serum covellite albumen in my body is lower than the normal value too, but not to ill stage yet. "

He says, has known after mother has suffered from this strange disease, he has gone to consult the materials too.

"Animal's viscera, blood, the animal in the sea, the nut, the soyfood are all high copper diet. I will eat few afterwards. " He says, " I am a hereditary person who carries gene. If the intersection of I and for the future wife have the gene too on one's body, genetic clinic read at we need. After all, this trouble is still very critical. " (reporter Lin Dan reporter's floor is built beautifully)

Lady 52 years old gets the rare hereditary disease Eyes " It is long " Appear " The gold finger-ring "