(Anemia Perniciosa Juvenil; Anemia Perniciosa Congénita). vnacarenewengland .org La anemia perniciosa que ocurre al nacer (congénita) es hereditaria. Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, which is essential for the development of red . Anemia perniciosaEs una disminución en los glóbulos rojos que ocurre cuando los intestinos no pueden absorber apropiadamente la vitamina B Ver.
|Published (Last):||4 December 2004|
|PDF File Size:||5.41 Mb|
|ePub File Size:||9.38 Mb|
|Price:||Free* [*Free Regsitration Required]|
Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, which is essential for the development of red blood cells. Most cases result from the lack of the gastric protein known as intrinsic factor, without which pernicisoa B12 cannot be absorbed. Recurring episodes of anemia megaloblastic and an abnormal yellow coloration of the skin jaundice are also common. Pernicious anemia is thought to be an autoimmune disorder, and certain people may have a genetic predisposition to this disorder.
There is a rare congenital form of pernicious anemia in which babies are born lacking the ability to produce effective intrinsic factor. There is also a juvenile form of the disease, but pernicious anemia typically does not appear before the age of The onset of the disease is slow and may span decades. When the disease goes undiagnosed pernniciosa untreated for a long period of time, it may lead to neurological complications.
Nerve cells and blood cells need vitamin B12 to function properly. Symptoms juveenil pernicious anemia may include fatigue, shortness of breath, rapid heart rate, jaundice or pallor, tingling and numbness of hands and feet, loss of appetite, diarrhea, unsteadiness when walking, bleeding gums, impaired sense of smell, and confusion.
The symptoms of juvenile pernicious anemia are usually obvious between the ages of 4 and 28 months. Most affected infants develop a form of anemia known as megaloblastic anemia. Large, immature red blood cells are found in the blood megaloblastsimpairing the ability of the blood to deliver oxygen to the tissues of the body.
Other types of blood cells e.
Mental retardation is also common in infants with juvenile pernicious anemia. Affected infants may experience repeated episodes of extreme anemia and jaundice. Some children juvvenil the juvenile form of the disease have blood protein present in their urine persistent proteinuria and some may have urinary tract malformations.
Individuals with congenital pernicious anemia present with symptoms very similar to the juvenile form. These however progress comparatively slowly; so slowly that the signs of neurological deficits may precede those associated with the decline in blood capacity. Weight loss is also common.
Some people with Pernicious Anemia may have an abnormally enlarged liver hepatomegaly or spleen splenomegaly.
Other problems involving urinary function may also develop. Because nerve cells need vitamin B12 to function properly, some people with pernicious anemia will display neurological symptoms. Nerves other than those of the brain and spinal cord peripheral nervous perbiciosa are frequently affected. Occasionally, the spinal cord may also be involved. Some people with pernicious anemia may also become extremely irritable or depressed and, in some rare cases, even experience paranoia megaloblastic madness.
Pernicious anemia juvneil thought to be an autoimmune disease. However, since the disorder also tends to occur with greater frequency in certain families than in others, it is also believed that there petniciosa be a genetic component to pernicious anemia.
In general, risk factors psrniciosa pernicious anemia include a family history of the disease, being of Northern European or Scandinavian descent, and a history of autoimmune endocrine abemia. The congenital and juvenile forms are thought to be inherited as autosomal recessive traits.
The gene responsible for anemia due to intrinsic factor deficiency has been tracked to a location on chromosome 11 11q The gene responsible for anemia due to the intestinal malabsorption of vitamin B12 has been tracked to sites on chromosome 14 14q32 and 10 10p Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y.
Males have one X and one Y chromosome and females have two X chromosomes. Chromosomes are further sub-divided into many bands that are numbered. Similarly gene map loci 14q32 and 10p The numbered bands specify the location of the thousands of genes that are present on each chromosome. Genetic diseases perniciosaa determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
The risk is the same for males and females. All individuals ujvenil a few abnormal genes. Parents juveni are close relatives consanguineous have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. Slightly more women than men are affected by pernkciosa anemia. The adult form is the most common, and diagnosis typically takes place at around 60 years of age.
Pernicious anemia is more common among people from northern Europe, Scandinavia, and North America than among those from other parts of the world. It is believed that a significant number of cases go undiagnosed. This disorder occurs much more frequently among people who have diseases such as multiple myeloma and various other immunoglobulin deficiencies than in the general population.
Acquired aplastic anemia is a rare disorder caused by profound, almost complete bone marrow failure. Bone marrow is the pernicosa substance found in the center of the long bones of the body.
The bone marrow produces specialized snemia hematopoietic stem cells that grow and eventually develop into red blood cells erythrocyteswhite blood cells leukocytesand platelets. In acquired aplastic anemia, an almost complete absence of hematopoietic stem cells eventually results in low levels of red and white blood cells and platelets pancytopenia. Specific symptoms associated with acquired aplastic anemia may vary, but include fatigue, chronic infections, dizziness, weakness, headaches, and episodes of pernjciosa bleeding.
Megaloblastic anemia is a rare blood disorder characterized by the presence of abnormal white blood cells, low white blood cell counts, and abnormally low levels of circulating platelets. The initial symptoms may include diarrhea, vomiting, a profound loss of appetite anorexiaand weight loss.
The myelodysplastic syndromes are a group of diseases that affect bone marrow. Healthy bone marrow produces immature blood cells that then develop into red blood cells, white blood cells, and platelets.
Meanwhile, levels of the circulating mature blood cells fall. The mature blood cells, in addition to being fewer in number, may not function properly due to distortions in their shape. Vitamin B12 deficiency is characterized by abnormally low levels of circulating B12 due to a poor diet or inadequate absorption of this vitamin by the stomach.
Unlike pernicious anemia, people with Vitamin B12 deficiency typically have normal levels juvenul intrinsic factor. Most people with the disorder have abnormally low red blood cell counts anemia. This deficiency is very rare due to storage of fitamin B12 in the liver that lasts for 3 to 5 years. When insufficient B12 is in the diet, the liver releases B12 to compensate for the loss. The diagnosis of pernicious anemia may be confirmed by a thorough clinical evaluation, including a detailed patient history and specialized pwrniciosa tests.
During a Schilling test, the intestines’ ability to absorb vitamin B12 is measured. The vitamin is labeled with radioactive cobalt and anemiia ingested by mouth. X-ray studies can then determine jvuenil the body is properly absorbing this vitamin. If pernicious anemia is ignored, undiagnosed, or left untreated, life-threatening complications can occur. Pernicious anemia is treated by injection of pernicjosa B12 hydroxocobalamin or cyanocobalamin into the muscle.
A physician must closely monitor the amount of vitamin that is given and adjust the dosage when necessary. People with pernicious ;erniciosa must anenia to receive maintenance doses of vitamin B12 throughout life.
Information on current clinical trials is posted on the Internet at www. All studies receiving U.
Prniciosa MH, Berkow R. The Perrniciosa Manual, 17th ed. Merck Research Laboratories; The Merck Manual-Home Edition. Bennett JC, Plum F, eds. Cecil Textbook of Medicine. A genetic polymorphism in the coding region of the gastric intrinsic factor gene GIF is associated with congenital intrinsic factor deficiency.
Human gastric intrinsic factor: The Johns Hopkins University. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.
About News Events Contact. General Discussion Pernicious anemia is a rare blood disorder ansmia by the inability of the body to properly utilize vitamin B12, which is essential for the development of red blood cells.
Causes Pernicious anemia is thought to be an autoimmune disease. Affected Populations Slightly jufenil women than men are affected by pernicious anemia. Related Disorders Acquired aplastic anemia Acquired aplastic anemia is a rare disorder caused by profound, almost complete bone marrow failure.
Megaloblastic anemia Megaloblastic anemia is a rare blood disorder characterized by the presence of abnormal white blood cells, low white blood cell counts, and abnormally low levels of circulating platelets. Myelodysplastic syndromes The myelodysplastic syndromes are a group of diseases that affect bone marrow.
Vitamin B12 deficiency Vitamin B12 deficiency is characterized by abnormally low levels of circulating B12 due to a poor diet or inadequate absorption of this vitamin by the stomach. Diagnosis The diagnosis of pernicious anemia may be confirmed by a thorough clinical evaluation, including a detailed patient history and specialized laboratory tests.
Standard Therapies Treatment If pernicious anemia is ignored, undiagnosed, or left untreated, life-threatening complications can occur. Genetic counseling may be of benefit for people with pernicious anemia and their families.
Investigational Therapies Information on current clinical trials is posted on the Internet at www. Eastpointe, MI Phone: