What are the genetic diseases that are equivalent to terminal illnesses?

Fatal genetic disease.

There are many kinds. I don't know the specific content of your **, I can only provide some information:

Systemic lupus erythematosus.

systemic lupus erythematosus (SLE) is a diffuse, systemic autoimmune disease.

It mainly affects **mucosa, musculoskeletal muscles, kidneys, and central nervous system.

At the same time, it can also affect multiple organs and systems such as lungs, heart, and blood, showing a variety of clinical manifestations; A variety of autoantibodies and immunologic abnormalities can be detected in serum.

SLE is not a single-gene genetic disease, but its onset is associated with a variety of genetic abnormalities, and it is a polygenic disease, such as HLA-DR2 and HLA-DR3 molecules and their subtypes are significantly related to the pathogenesis of SLE. Homozygous C4A genetic defects are associated with the risk of developing SLE; In addition, SLE is also associated with C1Q, C1R S, and C2 defects.

SLE is more common in young women, with a peak incidence of 15 to 40 years old, and the male-to-female ratio is about 1:9. The male-to-female ratio of juvenile and senile SLEs is about 1:

2。The global prevalence is about 30,501,000 and that in China it is about 70,100,000. However, there are significant differences in reported prevalence from place to place.

The incidence of SLE tends to be familial agglomeration, with the incidence of identical twins in SLE patients being 25% to 50%, and the incidence among fraternal twins being only 5%. Although the incidence of SLE is influenced by genetic factors, most cases are sporadic.

The onset of systemic lupus erythematosus can be acute or slow, and the clinical manifestations are varied. Patients with mild disease in the early stages often have atypical manifestations of single system or organ involvement, and their clinical manifestations become more and more complex as the course of the disease progresses, and can manifest as clinical symptoms of multiple system and organ involvement. Systemic manifestations include fever.

fatigue, fatigue and weight loss.

Feel that this disease meets your ** requirements. Before the onset of the disease, the patient is no different from a normal person (unlike some genetic diseases, which appear to be sick as soon as they are born), and the condition can go straight down to the onset of the disease, and the disease can develop slowly, and you can write as you want. There is also plenty of information available online.

If it's not a one-child one, it's possible. For example, trisomy 21, meowing cat syndrome, phenylketonuria, anencephaly, congenital heart disease, are all possible.

All to death.

Liver cancer: Hepatitis B virus is one of the leading causes of liver cancer, and if a parent is diagnosed with liver cancer, their children have a higher risk of developing liver cancer than the general population.

Breast Cancer: The genetic risk of breast cancer varies depending on a variety of factors, including genetic factors, age, menstrual status, lactation, body mass index, fertility status, etc. If a female relative in the family has breast cancer, the risk of breast cancer in the woman is also increased.

Nasopharyngeal carcinoma: Nasopharyngeal carcinoma has a clear racial predisposition, regional clustering, and familial tendency. If someone in your family develops nasopharyngeal cancer, other family members are also at higher risk.

Stomach cancer: The genetic risk of stomach cancer is related to factors such as eating habits, alcohol consumption, smoking, etc. If someone in the family has stomach cancer, other family members will also have an increased risk of stomach cancer.

Prostate cancer: The genetic risk of prostate cancer is uncertain, but studies have shown that people who have prostate cancer in their family have a higher risk of developing this cancer.

It is important to note that not all cancers are passed on to the next generation. For example, many cancers, such as lung cancer, esophageal cancer, etc., are not usually passed on to the next generation. In addition, even if genetic factors are present, not all people will show the same genetic predisposition.

So, while genetic factors are very important for the impact of cancer, not all people are affected. In daily life, we still need to pay attention to dietary habits, lifestyle, etc., to prevent the occurrence of cancer.

Genetic disorders are disorders caused by abnormal changes in genetic material, including chromosomes and genes. So far, there are about 3,000 genetic diseases found in the world, including more than 300 chromosomal diseases and more than 2,700 genetic diseases. The more common genetic disorders are:

1) Autosomal dominant genetic diseases: diseases caused by dominant pathogenic genes located on autosomes, and are the most common in monogenic inherited diseases. One of the patient's parents is the patient, and the incidence of the disease is equal for both men and women, and 1 in 2 of their children are patients.

Such as brachydactyly: It is caused by the shortening of the phalangeal bone or metacarpal bone or the absence of the phalangeal bone, resulting in the shortening of the finger (or toe). Familial hypercholesterolemia:

It is manifested as cholesterol deposition in the blood vessel wall, causing atherosclerosis, causing coronary heart disease and even myocardial infarction in early life.

2) Autosomal recessive genetic diseases: diseases caused by recessive pathogenic genes located on autosomes. Both parents of the patient are carriers or patients of the disease-causing gene, and the incidence rate is equal for both men and women, and the incidence is significantly higher in the offspring of consanguineous marriage.

The more common ones are: albinism, which is caused by a disorder of melanin metabolism. **, the hair is white, the iris and pupils are light red, the retina is pigmentless, and the retina is shy and bright.

Phenylketonuria is caused by an inherited deficiency of phenylalanine transchemase. The child has a normal appearance, but at 3-4 months, he gradually develops intellectual impairment, abnormal walking, small steps, ape-like posture, easy to excite, and urine has a special rancid smell. Galactosemiaemia is due to galactose-1-phosphopicrimidyltransferase deficiency.

It is manifested as vomiting and diarrhea after breastfeeding, intolerance to milk, followed by liver cirrhosis, cataracts, and mental retardation.

3) Inherited diseases: Genetic diseases caused by pathogenic genes on sex chromosomes. Most of the sex-linked pathogenic genes are on the X chromosome, and there are far more male than female patients.

For example, red-green color blindness is absent or reduced in the patient's ability to distinguish between red and green colors. Anti-vitamin D tenant disease is mainly due to the impaired transport mechanism of phosphorus in the distal convoluted tubules of the kidney, increased urinary excretion of phosphate, decreased blood phosphate and affecting bone calcification, and the patient is short stature, and vitamin D ** is ineffective.

4) Polygenic genetic diseases: genetic diseases with multiple pairs of pathogenic genes controlled, and the incidence rate is low. Common ones are: congenital hip dislocation, spina bifida, cleft lip or palate (commonly known as cleft lip) and anencephaly.

5) Chromosomal disease: a disease caused by congenital chromosome number abnormalities or structural aberrations. Such as 21 trisomy congenital stupidity:

It is caused by three items on chromosome 21. The main manifestations are mental retardation, wide eye distance, ocular fissure, mouth protrusion, salivation, etc.

Nervous and foot diseases (that is, sometimes painful walking), leprosy, willow, muteness, 、、、

If you love someone, you can love well, and you don't have to care about other people's feelings, because love is a matter of two people!

May you be happy!