Hereditary multisystemic disease

Last updated on: 02.03.2024

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Definition
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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 information
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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

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

Literature
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  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

Outgoing links (1)

Fabry's disease;

Last updated on: 02.03.2024