Gunther disease

The Günther's disease also (congenital erythropoietic porphyria, abbr CEP) is a rare autosomal recessive disease that manifests itself in childhood. Mutation of the gene in question codes for the uroporphyrinogen III synthase, an enzyme of the porphyrin metabolism.

Under the technically incorrect name Günther's disease is in some places a number of diseases understood that are related with the use of depleted uranium. The disease was described in the early 1990s by the German physician Siegwart Horst Günther.

Etiology

The Günther's disease is one of the most hereditary disorders in the biosynthesis of heme, the iron-containing pigment of the red blood cells. Heme, together with the globins, the percentage of protein, hemoglobin, which is necessary for oxygen transport in red blood cells.

The disease is caused by reduced activity of uroporphyrinogen III synthase, any one of 8 enzymes required for the synthesis of heme. Before the enzyme defect it comes to amassing the Hydroxymethylbilan, which should " further process " the affected enzyme.

Discomfort

As a result of the accumulation of the heme precursor substance uroporphyrinogen I, a severe, with under disfiguring photodermatosis ( Sonnen-/Lichtunverträglichkeit ) results especially on the face and hands. Patients have red urine that fluoresces under UV light ( Wood's light ), further, the teeth turn reddish - brown and fluoresce in long-wave UV light.

Also by the accumulating metabolites leads to hemolytic anemia and splenomegaly ( enlarged spleen ).

Diagnosis

Proof of uroporphyrinogen I in urine by HPLC.

The first indications of a CEP may be in the newborn pink / dark colored urine. This is particularly related to the phototherapy used in neonatal jaundice important because infants can catch up with CEP severe, disfiguring burns. Since CEP is a recessive trait, the parents are usually not affected, so that there is no family history that would indicate a CEP in the newborn.

Therapy

Gene therapy as a causal therapy was successfully carried out on mice in 2008.

Particularly important is the sunscreen, because caused by the strong sunlight skin symptoms. Possibly, an allogeneic stem cell transplantation should be considered. Thus, the defective cells are replaced, of course, with the disadvantage of lifelong immunosuppression.

Forecast

The prognosis is unfavorable in case of doubts the severity of disease and the available treatment options.

Confusion

Not to be confused is the CEP. Using the induced skin damage by UV light Xeroderma pigmentosum ( "Moonlight Children "), which is based on a failure of the repair capacity of DNA damage in the skin

Triviae

The symptoms of pallor by the existing anemia, distortions in the face by the photodermatosis nocturnal lifestyle due to the sensitivity to light and reddish teeth allows researchers suspect that prehistoric cases of Günther's disease could have contributed to the emergence and / or shaping of the vampire myth. Also, cases of increased body hair should be observed in M. Günther, which would also make the legend feed. In addition, the patients will often respond because of the content of cytochrome P450, which can strengthen the existing hemolysis, which is incompatible with garlic and related plants. The already from author to author non-uniform literary vampire templates and real porphyria - symptoms often differ from each other, with most authors as well as under the current popular vampire legends, however, at least partially matches with the listed symptoms can be found regularly.