Hereditary multisystemic disease

Last updated on: 02.03.2024

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

A hereditary multisystem disease is a congenital, often autosomal dominant, but also autosomal recessive (e.g. cystic fibrosis) inherited disease that affects several organ systems (Vogelberg 2022).

General informationThis section has been translated automatically.

Hereditary multisystemic diseases include a large number of diseases, such as:

- HERNS (hereditary endotheliopathy with retinopathy, nephropathy and stroke) (Seihfried 2005)

- Hereditary transthyretin amyloidosis (Wedekind 2022)

- Fabry disease

- Cystic fibrosis

- Alström syndrome (Weichenhain 1997)

- NLSD- I = Chanarin- Dorfman syndrome (Diener 2023)

- Von Hippel- Landau disease (Schaps 2007)

- Hereditary ATTR amyloidosis (Ihne 2020) and many more

OccurrenceThis section has been translated automatically.

Hereditary multisystem diseases are generally relatively rare. The most common autosomal recessive multisystem disease is cystic fibrosis (Vogelberg 2022).

LiteratureThis section has been translated automatically.

  1. Diener H C, Gerloff C, Dieterich M, Endre M (2023) Therapy and course of neurological diseases. W. Kohlhammer GmbH Stuttgart 1512
  2. Herold G et al. (2022) Internal medicine. Herold Publishing House 654
  3. Ihne S, Morbach C, Sommer C, Geier A, Knop S, Störk S (2020) Amyloidosis - Diagnosis and therapy of an underdiagnosed disease. Dtsch Arztebl Int (117) 159 - 166
  4. Kasper D L, Fauci A S, Hauser S L, Longo D L, Jameson J L, Loscalzo J et al. (2015) Harrison's Principles of Internal Medicine. Mc Graw Hill Education
  5. Schaps K P, Kessler O, Fetzner U, Barnaure I, Barreiro- Coton S, Issels R D, Kasch R, Neßelmann C, Szatkowski S, Gräfin zu Toerring- Jettenbach A (2007) Innere Medizin Springer Medizin Verlag Heidelberg 191
  6. Seihfried C, Sitzer M, Jen J, Auburger G (2005) HERNS - A rare hereditary multisystemic disease with cerebral microangiopathy. The Neurologist 10
  7. Vogelberg C, Seidenberg J (2022) Pediatric Pneumology. Walter de Gruyter GmbH Chapter 10.
  8. Wedekind S (2022) "Hereditary transthyretin amyloidosis: rapid progression requires rapid action. The neurologist 1
  9. Weichenhain B, Stemplinger J, Ziegler A G et al. (1997) Alström syndrome - a rare disease from the diabetic spectrum. Medizinische Klinik 992) 175 - 178 https://doi.org/10.1007/BF03043276

Last updated on: 02.03.2024