Scheie's disease

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Classification according to ICD-10
E76 Disorders of the glycosaminoglycan metabolism
mucopolysaccharidosis
ICD-10 online (WHO version 2019)

The Crohn's Scheie is a rare congenital disease . It is a weakened form of mucopolysaccharidosis type I (MPS I), a lysosomal storage disease , also known as the Hurler-Scheie variant . Scheie 's disease is milder than the more common Hurler's disease .

The name is derived from the American ophthalmologist Harold Glendon Scheie (1909–1990), who first described this course form.

Synonym : Ullrich-Scheie syndrome

Epidemiology

The incidence of M. Scheie is 1: 500,000 births.

root cause

Scheie's disease is based on a mutation in the IDUA gene at gene location 4p16.3, which codes for the enzyme alpha-L-iduronidase. As a result, glycosaminoglycans (GAGs) can no longer be sufficiently broken down and broken down. The GAGs are stored in the lysosomes of the body cells. In the process, dermatan sulfate and heparan sulfate in particular accumulate . As a result, the function of the cells is severely impaired, leading to the symptoms of the disease.

Symptoms

In Scheie's disease, not all symptoms of MPS I disease are fully developed. The skeletal system, eyes and heart are particularly affected by the enzyme defect.

The main symptoms include:

The first symptoms are visible in early childhood, on average at 5 years of age. Inguinal and umbilical hernias are rather early signs. Carpal tunnel syndrome or cardiomyopathy can also only occur in adolescence or early adulthood.

In contrast to the most severe form of MPS I, Hurler's disease, the central nervous system (CNS) is not affected in people with Scheie's disease. Mental development and intelligence are normal in these people. The disease is chronically progressive with considerable morbidity due to the multisystemic disease manifestations.

Appearance

The appearance of Scheie's disease is not as clear as that of the severe form, Hurler's disease. Visually, there may be abnormalities such as a stocky build, coarsened facial features or corneal opacity. Although those affected by the skeletal changes and joint contractures z. B. can have a characteristic gait pattern, many reach an almost normal height. People with Scheie's disease can also appear completely normal.

diagnosis

The diagnosis of Scheie's disease is often delayed due to the delayed course and the variable clinical picture. Some people affected are therefore not recognized until puberty or adulthood. Since MPS I is progressive, an early diagnosis is particularly important. Especially in the less progressive form, Scheie's disease, early intervention can slow down the course of the disease. If MPS I is suspected, this can be confirmed with the help of a blood test (from blood serum or in the white blood cells and a direct genetic test ).

forecast

In contrast to people with Hurler's disease, people with Scheie's disease have a nearly normal life expectancy.

therapy

Long-term treatment has been available for Scheie's disease and the other forms of MPS I since 2003. In the so-called enzyme replacement therapy , the defective enzyme is replaced by a biotechnologically produced form, which can reduce the pathological storage of GAGs again.

Therapy cannot cure MPS I definitively. Especially in the less progressive, attenuated form of Scheie's disease, however, it can counteract the symptoms and improve quality of life. In contrast to Hurler's disease, bone marrow or stem cell transplantation does not play a role in the treatment of Scheie's disease.

Individual evidence

  1. ↑ a b c J. Muenzer: Overview of the mucopolysaccharidoses. In: Rheumatology (Oxford, England). Vol. 50 Suppl 5, December 2011, pp. V4-12, doi: 10.1093 / rheumatology / ker394 , PMID 22210669 (review).
  2. ↑ a b c d e f g C. Lampe: Lysosomal storage diseases. In: Thieme-Refresher internal medicine. 2014, pp. R35 – R54
  3. ↑ a b c d e f g h Society for Mucopolysaccharidosis
  4. ↑ Who named it shit
  5. ↑ HG Scheie, GW Hambrick, LA Barness: A newly recognized forme fruste of Hurler's disease (gargoylism). In: American journal of ophthalmology. Vol. 53, May 1962, pp. 753-769, PMID 14498144 .
  6. ^ Pschyrembel online
  7. ^ RB Lowry, DH Renwick: Relative frequency of the Hurler and Hunter syndromes. In: The New England Journal of Medicine . Vol. 284, No. 4, January 1971, pp. 221-222, doi: 10.1056 / NEJM197101282840425 , PMID 4250044 .
  8. ^ Mucopolysaccharidosis Is.  In: Online Mendelian Inheritance in Man . (English)
  9. ^ Beck Michael et al .: The natural history of MPS I: global perspectives from the MPS I Registry . Ed .: Genet Med. Band 10 , October 2014, p. 759-765 .
  10. ^ Clarke Gene Reviews

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