Pfoundler-Hurler-Ellis Disease

Pfaundler-Hurler-Ellis disease

Pfaundler-Hurler-Ellis disease is a rare hereditary disease characterized by progressive damage to the central nervous system, skeleton, and internal organs.

The disease is named after the doctors who described it: German pediatrician Martin Pfaundler (1872-1947), German pediatrician Gertrud Hurler and English pediatrician Ronald Ellis (1902-1966).

The disease is caused by a defect in the enzyme α-L-iduronidase and the accumulation of sulfur mucopolysaccharides in cells, which leads to tissue damage and disruption of their functions.

Main symptoms: enlarged liver and spleen, deformation of the skeleton and joints, rough facial features, delayed mental and physical development, clouding of the cornea.

Treatment is mainly symptomatic and supportive. Hematopoietic stem cell transplantation can slow the progression of the disease if performed in the early stages. The prognosis is unfavorable.

At the end of the 19th - beginning of the 20th centuries. A group of genetically determined diseases arises, the incidence of which can reach 0.1 newborns. The group includes hemophilia and Minkowski-Schüller anemia. The etiology and pathogenesis of both forms of the disease have not yet been studied. Moreover, the existence of their combined form is unlikely, given the degree of genetic heterogeneity of hereditary disorders of carbohydrate metabolism, but the bulk of the research goes back to this period. Among the storage diseases that hypothetically make up this group are phenylketonuria, amaurotic idiocy, and spondyloepiphyseal dysplasia.

Etymological excursions are still relevant both for