Glucose-6-phosphate dehydrogenase deficiency is the most common congenital enzymdefekten in humans

Figure 1. Glucose-6-phosphate dehydrogenase (G6PD) shin splints catalyzes the reaction in which glucose-6-phosphate (G6P) is oxidized to 6-phosphogluconolactone (6PG). At the same time the NADP is converted to NADPH which in turn can reduce oxidized glutathione shin splints (GSSG) to its reduced form (GSH). GSH is required for the reduction of hydrogen peroxide (H 2 O 2) during oxidative stress.
Figure 3. Blodmorfologisk analysis showed the presence of so-called bite cell (1), sfärocyter (2) and Pappenheimer-cells (3), as seen in hemolysis due to oxidative stress in patients with G6PD deficiency.
Glucose-6-phosphate dehydrogenase deficiency is the most common congenital enzymdefekten in humans and can cause episodes of hemolytic anemia induced by external factors, such as certain drugs, shin splints ingestion of fava beans or other serious illness.
Lack of glucose-6-phosphate dehydrogenase (G6PD) is the most common shin splints congenital enzymdefekten in humans and is found in about 400 million people worldwide [1]. The incidence is higher in malaria endemic areas, especially in Africa, the Middle East and South Asia, suggesting that G6PD deficiency is likely to appear protective against malaria shin splints [2].
More than 140 different mutations of the enzyme deficiency has been identified, most of which are point mutations. The gene is X-linked, so G6PD deficiency is common in men [3]. G6PD enzyme catalyzes the first and rate limiting step in the hexose monophosphate shunt (HMP shunt), i.e. the oxidation of glucose-6-phosphate to 6-phosphogluconolactone and the simultaneous formation of NADPH from NADP (Figure 1). NADPH is among other things important for the body's defenses against shin splints free radicals during oxidative stress. Red blood cells are particularly dependent on G6PD enzyme which is the only one that provides them with NADPH [3]. Factors that may cause oxidative stress and thereby hemolytic anemia in individuals with G6PD deficiency is recognized in Fact 1. Varying symtobild
Favism, ie hemolysis after ingestion of fava beans (fava beans) (Figure 2), has been known since more than 2000 years. Already Pythagoras should have forbidden his followers to eat fava beans. All types of G6PD deficiency shin splints does not give rise to favism [4].
G6PD found in all body cells, but the clinical consequences of G6PD deficiency becomes largest in the erythrocytes, where the HMP shunt is the only way to produce shin splints NADPH as they lack mitochondria [3]. G6PD deficiency severity varies depending on the enzyme activity remaining. The clinical picture varies from asymptomatic to chronic hemolysis, and onset may be early in the form of neonatal jaundice.
Symptoms include anemia shin splints nonspecific symptoms such as fatigue shin splints and dizziness, and jaundice and back pain. In the blood chemical analyzes seen an image in hemolytic anemia. The diagnosis is made by measuring the activity of the enzyme in the blood. G6PD deficiency affects in most cases not life expectancy [3]. There is no specific treatment for G6PD deficiency. Patients are advised to avoid the factors that can trigger hemolysis. If necessary, if symtomgivnade anemia occurs, blood transfusions are given [5]. Case
The case concerns a 46 year old man who sought emergency department at Karolinska University Hospital Huddinge because of suspected blood in the urine then two days and fatigue, and diffuse abdominal pain since about a week. Previously, shin splints he was essentially healthy, in addition to episodes of abdominal pain of unknown cause since childhood. He took no medications regularly. He was originally from Morocco and mostly Arabic speaking. shin splints Accompanying partner helped to interpret the emergency department.
Upon arrival, he was pale, tired, afebrile, takypnoisk shin splints and icteric. Oxygen saturation was 87 percent with 10 liters of oxygen to the mask. The heart auskulterades with regular rhythm shin splints with a frequency shin splints of 93 beats / minute. The abdomen was generally shin splints palpationsöm. ECG was normal. Laboratory tests showed: CRP 88 mg / L, glucose 6.3 mmol / l, creatinine 124 ĩmol / l, the electrolyte otherwise normal. A blood count was Hb 96 g / dl, MCV 107 fL, TPK 181 10 9 / L and WBC 18.3 10 9 / L. Liver samples showed shin splints bilirubin 93 ĩmol / L, AST 1.93 μkat / L, ALT 0.44 μkat / L, ALP 1.0 μkat / L and pancreatic 0.13 μkat / L. D-dimer was 2.6 mg / l. Blood gas with 10 l of oxygen showed shin splints pH 7.51, p CO 2 4.9 kPa, P 2 O 34.5 kPa and base excess 6 mmol / l. CT of the thorax and abdomen were ordered but showed no pulmonary embolism and nothing abnormal in the abdomen. Some emfysematösa bullae and less bronchiectasis was noted (patient was a smoker).
The patient was traded in the emergency department of the surgeon's shelter, whose preliminary assessment was unclear abdominal pain with hematuria. The differential diagnoses considered was schistosomiasis (snail fever), another parasite infection shin splints and viral hepatitis. The patient was admitted fasting on surgical emergency department with intravenous fluids and pain relief when needed and received hematurikateter with spoldropp. Hb fell during the night of 84 g / l, and the patient is transfused was therefore with two units packed red blood cells. The next morning Hb 96 g / l. The patient shin splints was taken over as a medical patient after consultation with medi