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Archives: Enfermedades

  • Alpha-1 Antitrypsin Deficiency

    What is it? Alpha-1 antitrypsin deficiency is an inherited disorder that can increase the risk of lung and liver diseases. It is characterized by a deficiency of alpha-1 antitrypsin (AAT), a protein produced in the liver to protect the lungs. When there is insufficient AAT production, the lungs become more susceptible to damage from environmental…

  • Dravet syndrome

    What is it? Dravet syndrome, formerly known as severe myoclonic epilepsy of infancy (SMEI), is a genetic epilepsy disorder that begins in infancy or early childhood. It is characterized by temperature-sensitive or febrile seizures, treatment-resistant epilepsy, and developmental differences in childhood. The condition is considered a severe form of epilepsy, and it is estimated to…

  • Hunter syndrome

    What is it? Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder classified as a lysosomal storage disorder (LSD). It is caused by a deficiency of the enzyme iduronate-2-sulfatase (IDS), which leads to the abnormal accumulation of complex sugars called glycosaminoglycans (GAGs) in the body’s cells. This accumulation affects…

  • Atypical Hemolytic Uremic Syndrome (aHUS)

    What is it? Atypical Hemolytic Uremic Syndrome (aHUS) is a rare disease characterized by the formation of abnormal blood clots in the small blood vessels, particularly in the kidneys. It is a life-threatening condition that primarily affects kidney function but can also impact other organs. The exact cause of aHUS is often related to dysregulation…

  • Paroxysmal nocturnal hemoglobinuria (PNH)

    What is it? Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired blood disorder characterized by the breakdown of red blood cells and the impaired production of new blood cells by the bone marrow. It is caused by a defect in the PIG-A gene, which results in the deficiency of certain proteins on the surface of…

  • Urea cycle disorders (UCDs)

    What is it? Urea cycle disorders (UCDs) are a group of genetic conditions that affect the function of proteins and enzymes involved in the urea cycle, which is responsible for removing ammonia from the bloodstream. These disorders result from inherited deficiencies in one of the six enzymes or two transporter molecules of the urea cycle…

  • Cystic Fibrosis

    What is it? Cystic fibrosis (CF) is a rare genetic disorder that primarily affects the lungs, but also impacts the pancreas, liver, kidneys, and intestine. It is caused by a defective gene that results in the production of thick and sticky mucus, leading to various complications in multiple organs. CF is an autosomal recessive disorder,…

  • Adrenocortical carcinoma

    What is it? Adrenocortical carcinoma (ACC) is a rare and aggressive cancer that develops in the outer layer of the adrenal glands. These glands are small triangular-shaped organs located on top of each kidney. ACC can affect both children and middle-aged adults. The exact cause of ACC is unknown, but certain genetic conditions are associated…

  • Wilson Disease

    What is it? Wilson disease is a rare genetic disorder characterized by the accumulation of excess copper in various body tissues, particularly the liver, brain, and corneas of the eyes. It is caused by mutations in the ATP7B gene, which plays a role in copper transport and metabolism. Diagnosis involves clinical evaluation, blood tests, genetic…

  • Homozygous familial hypercholesterolemia (HoFH)

    What is it? Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood, accelerated atherosclerotic cardiovascular disease, and resistance to standard lipid-lowering therapy. It is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene…