Definition – 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 … Fabry’s disease
When you hear the word “delir” or “delirium,” you usually automatically think of a clinical picture that you mistakenly assign to alcohol abuse. But delirium occurs in up to 50 percent of all hospitalized patients – and by no means only in alcoholics. Definition: what is delirium? Delirium is a clinical picture in which various … Delirium: Multiple Causes
The certainly best known form of delirium is alcohol delirium, which can occur in various forms in alcoholics. How delir is treated in general and what should be considered in the therapy of alcohol delirium in particular is explained below. Alcohol delirium (delirium tremens). Alcohol delirium has some special features. It is important to note … Delir: Therapy
Synonyms in a broader sense English: alpha1-antitrypsin deficiency Laurell-Eriksson syndrome Alpha-1-protease inhibitor deficiency Introduction Alpha-1-antitrypsin deficiency is, as the name suggests, the absence of the protein alpha-1-antitrypsin, which is produced in the lungs and liver. It is therefore a metabolic disorder. This disease is inherited autosomal recessively. It occurs with a frequency of 1:1000 to … Alpha-1-antitrypsin deficiency
Diagnosis The diagnosis of alpha-1-antitrypsin deficiency is based on a blood sample and laboratory tests. The blood of the patient is examined for its individual components (here especially for the protein composition). An almost complete absence of alpha-1 proteins is detected. Elevated liver enzymes can also be detected in the blood. Ultrasound shows an enlarged … Diagnosis | Alpha-1-antitrypsin deficiency
Prophylaxis There is no real prophylaxis, since the disease is inherited. Those affected should not smoke, as it makes it more difficult and puts even more strain on the lungs. Alcohol should also be avoided due to the strain on the liver. Is alpha-1-antitrypsin deficiency hereditary? Alpha-1-antitrypsin deficiency is inherited. The corresponding gene sequence of … Prophylaxis | Alpha-1-antitrypsin deficiency
Definition – What is phenylketonuria? Phenylketonuria is a hereditary disease pattern that is expressed in a reduced breakdown of the amino acid phenylalanine. The tricky thing about the disease is that it has been present since birth and thus leads to an accumulation of the amino acid. From about the third month of life it … Phenylketonuria
Diagnosis of Phenylketonuria Diagnosis is carried out in two different ways as standard. One is the detection of the defective enzyme, the other is the detection of the greatly increased phenylalanine concentration in the blood. The first method is part of newborn screening as so-called tandem mass spectroscopy and indicates the defect without the need … Diagnosis of Phenylketonuria | Phenylketonuria
Prognosis vs. life expectancy in phenylketonuria The life expectancy of the affected persons depends on the one hand on the present form of phenylketonuria and on the other hand on the time when the disease is diagnosed. While a normal life expectancy is possible with a normal variant of phenylketonuria, there are rare variants of … Prognosis vs. life expectancy in phenylketonuria | Phenylketonuria
Localization Pain in the spleen is usually located in the left upper abdomen at the level of the navel. However, the pain may also radiate into the lower abdomen below the navel or even into the left shoulder. Radiating splenic pain usually occurs in colicky splenic pain. Colic is a wave-like severe pain that is … Pain of the spleen
Symptoms In the case of splenic pain, the pain usually occurs in the left upper abdomen. This is where the spleen lies, which is covered by the ribs. However, the symptoms can also radiate and extend into the left lower abdomen or up to the left shoulder. Depending on the cause of the pain, it … Symptoms | Pain of the spleen
Introduction The term lipomatosis describes a diffusely distributed, unnatural increase in fatty tissue affecting different parts of the body. Lipomatosis (Greek: lipos = fat; -om = tumor-like tumor; -ose = chronic progressive disease) is a term used to describe several clinical pictures, some of which cannot be completely separated from one another, but all of … Lipomatosis
