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Retroperitoneal fibrosis is a disease in which inflammation and extensive scar tissue are present in the back of the abdominal cavity, behind the skin that protects the digestive organs. The fibrosis is most noticeable around the aorta, the large blood vessel that transports blood from the heart to the rest of the body. Other blood vessels, including the inferior vena cava, which transfers blood from the lower part of the body to the heart, may also be involved. Impropairment of blood flow in the intestines may result in intestinal tissue death, acute pain, and excessive bleeding. Decreased blood supply back to the heart in men can lead to scrotal swelling. Since the kidneys are located in the retroperitoneal space, retroperitoneal fibrosis may result in blockage of the ureters, tubes that transport urine from each kidney to the bladder.
Sialic acid storage disease is a hereditary disorder that mostly affects the nervous system. People with sialic acid storage disease have signs and symptoms that can vary widely in severity. Infantile sialic acid storage disease is the most common symptom. Infants affected by the condition that has caused hydrops fetalis may have an abnormality in which excess fluid builds in the body before birth. Salla disease is a less common form of sialic acid storage disease. Babies with Salla disease generally start experiencing hypotonia during the first year of life and go on to experience progressive neurological problems. Individuals with Salla disease generally live into adulthood. People with intermediate Salla disease have signs and symptoms that correlate with those of ISSD and Salla disease severity.
An abdominal wall defect is a hole in the abdomen through which various abdominal organs can protrude, causing an abdominal wall defect. Obemalocele and gastroschisis are two common abdominal wall defects. Fetuses with omphalocele may grow slowly before birth and they may be born prematurely. As a result, many infants with omphalocele have respiratory difficulties and may require to be assisted with a machine to help them breathe. Large omphaloceles or those associated with multiple health conditions are more often associated with fetal death than cases in which omphalocele occurs alone. Nearly half of individuals with omphalocele have an abnormality caused by an extra copy of one of the chromosomes in each of their cells. Beckwith-Wiedemann syndrome is a genetic disorder that causes up to one-third of people born with omphalocele. Individuals with gastroschisis have no other birth defects and rarely have chromosome abnormalities or a genetic abnormality. In many children with gastroschisis, intestinal damage causes impairment of the muscle contractions that move food through the digestive tract. Children with gastroschisis are unlikely to have a narrowing or absence of a portion of the intestine or twisting of the intestine. Before birth, an individual with gastroschisis's health is largely dependent on how bad his or her intestine was damaged. The vast majority of people with no health problems related to the repaired defect may have no health problems later in life if the abdominal wall defect is fixed and normal intestinal function is restored.
Familial restrictive cardiomyopathy is a genetic disorder of heart disease. The heart muscle must contract and relax in a coordinated manner in order for the heart to beat normally. The heart muscle is stiff and cannot fully relax after each contraction in people with familial restrictive cardiomyopathy. Impaired muscle relaxation causes blood to return to the atria and lungs, which reduces the volume of blood in the ventricles. Children who are particularly disadvantaged may have abnormal swelling or puffiness, elevated blood pressure, an enlarged liver, an abnormal accumulation of fluid in the abdominal cavity, and lung congestion. Some children with familial restrictive cardiomyopathy have no obvious signs or symptoms, but they can die suddenly due to heart disease. About one-third of adults with familial restrictive cardiomyopathy do not live more than five years after diagnosis.
Type IV of glycogen storage disease is a hereditary disorder that is characterized by the accumulation of a complex sugar called glycogen in the body's cells. The fatal perinatal neuromuscular form of GSD IV is the most common form of GSD IV, with signs appearing before birth. Excess fluid can build up around the fetus and in the fetus' body. Infants with the fatal perinatal neuromuscular form of GSD IV have extremely low muscle tone and muscle wasting. The congenital muscular type of GSD IV is often not apparent before birth, but it begins in early infancy. Infants with the congenital muscular type of GSD IV typically live only for a few months. An elevated blood pressure in the vein that supplies blood to the liver is also typical, as well as an abnormal buildup of fluid in the abdominal cavity. In early childhood, children with the progressive hepatic type of GSD IV often die of liver disease. The non-prosepatetic hepatic form of GSD IV has many of the same characteristics as the progressive hepatic type, but the liver disease is not as severe. People with this disorder can also suffer from hypotonia and muscle weakness. GSD IV's childhood neuromuscular form is present in late childhood and is identified by myopathy and dilated cardiomyopathy. Some people have only mild muscle weakness, while others have extreme cardiomyopathy and die in early adulthood, according to these reports; in early adulthood, the severity of this form of GSD IV can vary greatly; some people have only mild muscle weakness, while others have severe cardiomyopathy and death in early adulthood.
Systemic mastocytosis is a blood disorder that can affect various organ systems. Many people with systemic mastocytosis have a skin condition called urticaria pigmentosa, which is characterized by swollen patches of brownish skin that sting or itch with contact or temperature changes. Nearly half of people with systemic mastocytosis will have severe allergic reactions. The indolent and smoldering varieties of systemic mastocytosis are the simplest of systemic mastocytosis. Individuals of these groups tend to have only the standard signs and symptoms of systemic mastocytosis, as shown above. Individuals with smoldering mastocytosis may have more organs affected and more prominent features than those with indolent mastocytosis. The indolent variety is the most common form of systemic mastocytosis. Popular systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia are three of the common varieties. An abnormal accumulation of fluid in the abdominal cavity can arise as a result of organ dysfunction. A bone loss and multiple bone fractures are associated with aggressive systemic mastocytosis. Systemic mastocytosis with underlying hematologic neoplasm and mast cell leukemia are two specific conditions that involve blood cell disorders or blood cell carcinomas. Mast cell lymphocytosis is the rarest and most common form of systemic mastocytosis. Individuals with the milder versions of the disease have a similar or near-normal life expectancy, while those with more severe illnesses have a short or two years after diagnosis.
Ovarian cancer is a disease that affects women. The ovaries are the female reproductive organs in which egg cells are produced. In about 80% of cases, ovarian cancer occurs before age 40, and the majority of cases occur after age 60. Epithelial cells, which are the cells that line the body's surfaces and cavities, are the most common cause of ovarian cancer. However, researchers estimate that many or even most ovarian cancers begin in epithelial cells on the edges of one of the fallopian tubes, extending to the ovary. Cancer can also arise in epithelial cells that form the abdominal wall. In about ten percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells. ovarian cancer usually does not cause symptomatic signs in its early stages. Women with one or two of these signs does not mean that a woman has ovarian cancer. If ovarian cancer spreads, benign tumors most often appear in the abdominal cavity or on the surface of nearby organs, such as the bladder or colon. Hereditary ovarian cancers tend to develop earlier in life than non-inherited diseases. Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it causes the deaths of around 14,000 women annually in the United States, more than any other gynecological cancer.
The degree, combination of signs and symptoms, and age of primary coenzyme Q10 deficiency can vary widely. The mildest cases of primary coenzyme Q10 deficiency can begin as late as a person's sixties and often result in cerebellar ataxia, which refers to coordination and balance difficulties due to deficiencies in the brain's portion of coordination. Other medical abnormalities that may occur in primary coenzyme Q10 deficiency include seizures, intellectual impairment, ineffective muscle contractions, progressive muscle cramping, abnormal eye movements, vision loss due to degeneration of the optic nerves or loss of the light-sensing tissue at the back of the eyes, and sensorineural hearing loss. If treated with coenzyme Q10 supplementation, the medical conditions will get worse. Other signs and symptoms of nephrotic syndrome include elevated cholesterol in the blood, abnormal accumulation of fluid in the abdominal cavity, and swelling. Affected individuals may also have blood in the urine, which may lead to a reduced number of red blood cells in the body, abnormal blood clotting, or reduced amounts of specific white blood cells in the body. Low white blood cell counts can lead to a weakened immune system and frequent infections among people with nephrotic syndrome. In primary coenzyme Q10 deficiency, a common heart disease that expands and weakens the heart muscle can also occur.
Hereditary diffuse gastric cancer is an inherited disease that greatly raises the risk of experiencing a form of stomach cancer. Gastric cancer often occurs in a person's late teens or early forties, but it can also occur during adulthood. If diffuse gastric cancer is detected early, the survival rate is high; however, because this form of cancer is hidden underneath the stomach lining, it is usually not diagnosed until the cancer has become highly infectious. People with HDGC are at an elevated risk of getting other types of cancer, including breast cancer in women that arises in the milk-producing glands; prostate cancer; and colon and rectum cancers, which are collectively referred to as colorectal cancer. The majority of people with HDGC have family members who have had one of the types of cancer associated with HDGC.
Children with congenital nephrotic syndrome start showing signs of the disorder from birth to three months. People affected by the blood may also have blood in the urine, which may lead to a reduced number of red blood cells in the body, abnormal blood clotting, or reduced amounts of such white blood cells in the urine. Both children with congenital nephrotic syndrome usually develop end-stage renal disease between ages 2 and 8, but with therapy, some children with congenital nephrotic syndrome do not have kidney disease until adolescence or early adulthood.
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