How is it treated? The treatment depends on the disease. A distinction is made here between symptomatic treatment and treatment that aims to suppress and slow down the development of the symptoms. Since the cause of the genetic change is not known, the cause itself cannot be treated. Prognosis Due to the large number of … How is it treated? | Neurocutaneous syndrome
Introduction The neurocutaneous syndrome summarizes various hereditary diseases that manifest themselves both on the skin and in the central nervous system. Definition The diseases that comprise the neurocutaneous syndrome are characterized by certain malformations of the cotyledons that develop during the embryonic period. This means that these malformations occur during the development of the unborn … Neurocutaneous syndrome
Definition Sickle cell anaemia is a genetic disease of the blood or more precisely of the red blood cells (erythrocytes). There are two different forms depending on the inheritance: a so-called heterozygous and homozygous form. The forms are based on a disturbed form of the erythrocytes. In the absence of oxygen, they take on a … Sickle cell anemia – How dangerous is it really?
Diagnosis Several methods can detect the sickle cell shape of the red blood cells. The easiest way to do this is by observation: If a drop of blood is spread out on a glass slide and sealed against air, affected erythrocytes take on the sickle shape (called sickle cells or drepanocytes). So-called target-cells or shooting-disk … Diagnosis | Sickle cell anemia – How dangerous is it really?
Associated symptoms The clinical picture of the symptoms depends on whether the affected person is a homozygous or heterozygous carrier. In the homozygous form, one can generally speak of the more severe form. Patients already suffer hemolytic crises and organ infarctions in childhood due to circulatory disorders. A hemolytic crisis is a complication of hemolytic … Associated symptoms | Sickle cell anemia – How dangerous is it really?
Therapy In the case of homozygous carriers, an attempt can be made to integrate the cultivation of normal erythrocytes in the body with an allogenic stem cell transplant. For this purpose, blood-forming stem cells are transferred to a sibling or a stranger, which then take over the (correct) blood formation. This is also done, for … Therapy | Sickle cell anemia – How dangerous is it really?
What medications are contraindicated? In principle, all drugs that increase the viscosity of the blood or impair the oxygen supply should be avoided. For example, sickle-cell patients should refrain from taking contraceptives containing estrogen, as these increase their risk of thrombosis. Drugs that act on the autonomic nervous system and narrow the vessels (vasoconstrictive drugs) … What medications are contraindicated? | Sickle cell anemia – How dangerous is it really?
What is Fabry’s disease? Fabry disease (Fabry syndrome, Fabry disease or Fabry-Anderson disease) is a rare metabolic disease in which an enzyme defect is caused by a gene mutation. The consequence is a reduced breakdown of metabolic products and their increased storage in the cell. As a result, the cell is damaged and dies. As … Fabry’s disease symptoms, causes and treatment
The diagnosis Fabry disease is not always easy to diagnose, and patients often have a long history of suffering before symptoms can be attributed to Fabry disease. It often takes several years for a doctor to make the correct diagnosis. If Fabry disease is suspected, the doctor makes the diagnosis by means of a series … The diagnosis | Fabry’s disease symptoms, causes and treatment
Course of the disease Corneal dystrophy is a progressive disease, i.e. its severity increases in the course of time. Some forms do not cause any symptoms for the patients and therefore do not have life-threatening effects. Other forms only lead to symptoms at a very late stage, which only worsen a little. The severe forms … Course of the disease | Corneal Dystrophy
What is corneal dystrophy? Corneal dystrophies are a group of hereditary diseases of the cornea. It is a non-inflammatory disease that usually affects both eyes. In most cases, it manifests itself by a reduction in the transparency of the cornea and a deterioration in vision. Its peak age is between 10 and 50 years of … Corneal Dystrophy
How is the inheritance? Corneal dystrophies represent a group of different forms of disease, which in turn have different inherited characteristics. Depending on the mutation, they are inherited autosomal dominant, autosomal recessive or X-linked recessive. Affected patients can undergo genetic counseling, which can inform them about treatment and prognosis as well as further inheritance to … How is the inheritance? | Corneal Dystrophy
