Hereditary nephropathies

Last updated on: 27.12.2022

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History
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Hippocrates probably described polycystic kidney disease for the first time as early as 460 BCE. The first comprehensive description of polycystic kidneys is found in 1829 - 1835 by Cruveilhier.

Laurence and Mond reported a family with typical symptoms of a Bardet- Biedl- syndrome in 1866 (Forsythe 2013).

In 1899, Steiner pointed out the heritability of cystic nephropathies and Marquardt differentiated between two different modes of inheritance in 1934. Von Dalgaard published a comprehensive monograph on the clinic and genetics of hereditary kidney diseases in 1957.

In 1971, Blyth and Ockenden described the clinical variability of the autosomal recessive and autosomal dominant forms. Just 1 year later, they were able to localize 4 different gene loci for ARPKD (autosomal recessive polycystic kidney disease).

In 1985 the first mapping of the gene was done by Reeders et al. and in 1994 the cloning was done(Ganten 2013).

Bardet and Biedl independently wrote extensively about the Bardet- Biedl syndrome named after them in 1995 (Forsythe 2013).

Definition
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Hereditary nephropathy is a generic term for the following conditions:

  • congenital anomalies of the kidneys
  • cystic nephropathies
  • glomerular diseases
  • metabolic hereditary nephropathies
  • phakomatoses with renal involvement
  • congenital disorders of renal tubular function
  • rare malformation syndromes of the kidneys (Herold 2021 / Scherberich 2003)

Classification
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The hereditary nephropathies are divided into:

(Scherberich 2003)

  • rare malformation syndromes such as:
    • nail-patella syndrome (also called hereditary onycho-osteodysplasia [Kuhlmann 2015])
    • Prune-Belly syndrome
    • Williams syndrome
    • mitochondrial cytopathies
    • oligomeganephronia (Keller 2010)
    • congenital nephrotic syndrome of the Finnish type
    • diffuse mesangial sclerosis (Risler 2008)
    • karyomegaly tubulointerstitial nephritis (Kasper 2015)

Occurrence
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Congenital anomalies of the kidney or urinary tract account for approximately 20% of all prenatal malformations (Keller 2010).

Kuhlmann (2015) describes a 2013 paper in which 1/3 to ¾ of the abnormalities for chronic kidney disease, variability in kidney function, and progression are dependent on genes (Kuhlmann 2015).

For further information on the occurrence, see the respective clinical picture.

Literature
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  1. Forsythe E et al. (2013) Bardet- Biedl- syndrome. Eur J Hum Genet 21, 8 - 13. https://doi.org/10.1038/ejhg.2012.115.
  2. Ganten D et al (2013) Monogenic inherited diseases 2: handbook of molecular medicine. Springer Verlag 291 - 292
  3. Hegele A et al. (2015) Urology: intensive course for continuing education. Thieme Verlag 42 - 57, 117 - 121
  4. Herold G et al (2021) Internal medicine. Herold Publishers 630 - 634
  5. Kasper D L et al (2015) Harrison's Principles of Internal Medicine. Mc Graw Hill Education 1850 - 1856
  6. Kasper D L et al (2016) Harrison's internal medicine. Georg Thieme Publishers 2279 - 2285
  7. Keller C K et al (2010) Practice of nephrology. Springer Verlag 41 - 57
  8. Kuhlmann U et al (2015) Nephrology: pathophysiology - clinic - renal replacement procedures. Thieme Verlag 653 - 680
  9. Risler T et al (2008) Specialist nephrology. Elsevier Urban and Fischer Publishers 705 - 759
  10. Scherberich J E (2003) Hereditary kidney diseases. In: Paumgartner G et al "Therapy of internal diseases." Springer Verlag. 533 - 547 https://doi.org/10.1007/978-3-662-10475-0_32

Last updated on: 27.12.2022