Who is tuberous sclerosis complex? Is tuberous sclerosis complex a genetic disease?

Tuberous sclerosis is more clear at present, it is an autosomal dominant inheritance, which can be inherited from parents, and can be inherited from the DAO family, which accounts for a part. But now there are many patients with tuberous sclerosis, his parents are fine, he may be caused by his own mutations, there are two types of genes, one is called TSC1, and there is a TSC2, mutations in these two genes can cause tuberous sclerosis.

Tuberous sclerosis, also known as Bourneville-Pringle disease, is mainly manifested by facial sebaceous adenoma, epilepsy, mental retardation, and retinal lesions of the eye. There may also be calcification of the skull, or tumors of the heart, kidney, bone and other parts. It is an autosomal dominant disorder.

Guidance: Genetic counseling and preventive measures include avoiding consanguineous marriages, genetic testing, prenatal diagnosis and elective abortion, etc., to prevent the birth of sick children.

Due to the slow progression of the disease, some patients have a poor prognosis, most patients can survive for decades, and the symptomatic ** can improve the quality of life of patients, kidney failure, heart failure, status epilepticus, respiratory failure and other complications are the main causes of death.

Tuberous sclerosis complex is a type of genetic disease, and tuberous sclerosis complex is a neurological syndrome. The disease is inherited in an autosomal dominant manner, with a sudden change in the TSC1 or TSC2 gene inherited from one parent; Sporadic cases account for about two-thirds of cases, i.e., patients are born with newly mutated TSC1 or TSC2 genes and no family members have the disease. TSC1 mutations are more common in familial patients, while TSC2 mutations are more common in sporadic patients.

Tuberous sclerosis complexes are autosomal dominant diseases that are inherited by an autosomal dominant disorder and are genetically predisposed, and it is possible for the disease to be passed on to future generations. It mainly affects the patient's cognitive function, causing a decline in the patient's intelligence. In addition, it also affects the cerebral cortex, which may cause the patient to have seizures.

Because this is a genetic disease, there is a lack of knowledge of very effective means, and it is not possible. It is mainly to give some symptomatic **, for example, if epilepsy occurs, it is necessary to give the corresponding anti-epileptic drugs**. In addition, it is necessary to carry out some multi-faceted training and psychological counseling to prevent patients from having some psychological emergency disorders.

Tuberous sclerosis complex is generally inherited.

The disease is an autosomal dominant disease, mainly caused by point mutations, some patients are familial cases, some patients are sporadic cases, that is, some patients are inherited from one parent.

Some patients are born with a new mutated gene and do not have a family member.

Tuberous sclerosis, as a neurological syndrome, usually affects multiple organs and systems of the patient, such as the kidneys, nervous system, peripheral nerves, eyes and **, etc., mainly manifested as mental retardation, facial sebaceous adenoma, seizures and other symptoms. If it is not effective**, it may also cause complications such as heart failure, respiratory failure, and kidney failure.

First of all, tuberous sclerosis is an autosomal dominant inherited disease, which is a neurological syndrome, and tuberous sclerosis can also cause other complications, such as abnormal development of ectodermal tissues and organs, which will lead to uncomfortable symptoms in the patient's brain, peripheral nerves, kidney organs, etc. It is not known how severe the disease is, but it is known that there is a genetic component to the pathogenesis of the disease.

Secondly, if only one of the parents has tuberous sclerosis, there is a 50% chance of inheritance, and if both parents have tuberous sclerosis, the probability of the next generation having tuberous sclerosis is 100%. Tuberous sclerosis is not necessarily caused by multiple factors, and heritability is only one of its pathogenesis.

In addition, there is currently no effective program for tuberous sclerosis that can completely ** the disease, nor can ** its severity, but it can be closely monitored and controlled. Since tuberous sclerosis complex cannot be hereditary and has a certain hereditary nature, genetic counseling should be carried out when considering the birth of the next generation, and the condition should not be concealed, so as to prevent the birth of children with this disease, and prenatal diagnosis or induced abortion can be selected.

To sum up, tuberous sclerosis is a dominant inherited neurological syndrome, there is a certain genetic possibility, not necessarily 100% inherited to the next generation, the genetic probability is determined according to the situation of both parents, tuberous sclerosis can not be **, but can be controlled, when tuberous sclerosis wants to give birth to the next generation should be first carried out genetic counseling, do a good job of prenatal diagnosis, such as found that children who are already pregnant with tuberous sclerosis, you can choose to have an abortion to avoid the birth of the child.

Disease is an autosomal inherited disease that can affect multiple organs such as the nervous system, **, liver, and kidneys.

The main clinical manifestations are:

First, ** damage, there can be facial angiofibromas distributed on both sides of the nose, or a soft plaque higher than ** occurs at the bottom of the waist, and the area gradually increases.

Second, there is a decrease in intelligence, which can lead to a decrease in memory, orientation, calculation, comprehension, and executive ability.

Tuberous sclerosis complex has a certain hereditary nature, it is mainly due to autosomal dominant inheritance of the disease, which will lead to damage to the organs, face, and nervous system. Therefore, in the case of tuberous sclerosis, it is necessary to take corresponding examinations to determine the extent of their condition, that is, they can further effectively control the condition through surgery, drugs and other methods, and achieve curative effects, so as to avoid a series of complications or damage caused by continuous damage to the body.

After learning that tuberous sclerosis complex has a genetic nature, patients also need to take care of their bodies in the process of receiving **, and also decide whether they can conceive according to the differences in individual circumstances. In general, if the heritability is very high, and it is determined that there is a dominant abnormality in the autosome, it is necessary to pass a comprehensive physical examination, and according to the results of the examination, the doctor will evaluate whether the pregnancy can be carried out normally. After determining one's own situation, you can take relevant measures based on the actual situation to avoid the occurrence of problems such as unwanted pregnancy, which will cause greater damage to the body.

From the above, tuberous sclerosis complex is hereditary, and it is mainly a genetic phenomenon caused by autosomal dominant abnormalities. Often, when there are different individual situations, there are differences in the location and degree of involvement, which will cause different degrees of damage to the body. Therefore, in the case of tuberous sclerosis, it is necessary to properly regulate the condition and regulate the body through surgery, drugs and other methods in time.

Tuberous sclerosis complexis an autosomal dominant disease that has a genetic predisposition, and it is possible to pass it on to future generations.

It mainly affects the patient's ** injury, but also affects the patient's cognitive function and causes the patient's mental decline, in addition to affecting the cerebral cortex, which may cause the patient to have epileptic seizures. Because this is a genetic disease, there is currently a lack of very effective means to be able to **.

Tuberous sclerosis.

It is usually inherited, generally autosomal dominant, and patients usually develop cardiac rhabdomyomas in the neonatal period, which may resolve on their own, and at about two to three years old, mental retardation or epilepsy may occur.

seizures, and there is also the possibility of **damage. It usually needs to be carried out with oral anti-epileptic drugs by the doctor**, which can control the seizures of epilepsy, and can also be surgical**, and if the epilepsy is not well controlled, the ketogenic diet can also be chosen**.

Normally, tuberous sclerosis is inherited in an autosomal dominant manner, with familial cases accounting for about one-third of cases, i.e., the TSC1 or TSC2 gene with a mutation inherited from one parent; Sporadic cases account for about two-thirds of cases, i.e., patients are born with a newly mutated TSC1 or TSC2 gene and no family member has the disease.

Tuberous sclerosis complex is a genetic disease, which can be divided into four types according to gene localization: TSC1, TSC2, TSC3, and TSC2 mutations cause abnormal function of hamartoma protein and nodular protein, respectively. Tuberous sclerosis complex is a point mutation in the tuberous sclerosis complex gene.

According to the disease gene mapping, it can be divided into four types, TSC1, TSC2, TSC3, TSC4, which are located on different chromosomes, TSC1 and TSC2 disease genes have been cloned, and the gene products are hamartoma protein and nodular protein, respectively.

Nodular protein is highly homologous to guanosine adenosine triphosphate kinase active protein, and interacts with the hamartoma protein to form a complex, and inhibits the protein complex MTOR pathway through GTPase-activated protein to regulate cell differentiation and proliferation.

Gene mutations will disrupt the inhibitory function of hamartoma protein and nodular protein on the MTOR pathway, resulting in the activation of the MTOR pathway, resulting in abnormal differentiation and proliferation of ectodermal, mesoderm and endoderm cells and the formation of hamartoma. The TS gene is now thought to be a tumor suppressor gene. The above is the genetic mechanism of tuberous sclerosis.

Tuberous sclerosis complex is a genetic disease, the way of inheritance is chromosomal dominant inheritance, familial lesions account for about 1 3, that is, one parent inherits, and caused by gene mutations, then, the child will also carry this gene after birth, thus causing the disease. Patients will have a variety of local involvement, typical facial sebaceous tumors, and seizures may be characterized by mental retardation.

Therefore, once clinical symptoms appear, it is necessary to go to the hospital as soon as possible for systematic examination, which can do head CT examination, MRI detection, EEG detection, and electrocardiogram detection to make a clear diagnosis.