Minimal change disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

The cause of minimal change disease occur sporadically with no clear cause has not been identified. Few cases occur due to genetic mutations.

Causes

Common Causes

Minimal change disease may be caused by:

Environmental

Less Common Causes

Less common causes of disease minimal change disease include:[2][1]

Genetic

The role of genetics in the development of minimal change disease and focal segmental glomerulosclerosis has been widely investigated. Several genetic mutations at the level of the podocyte are currently believed to be involved in minimal change disease. However, most congenital diseases cause a severe form of disease, ie. steroid-resistant nephric syndrome. In fact, they are more likely to result in FSGS rather than only minimal change disease:[3][4][5][6][7]

  • NPHS1 – nephrin
  • NPHS2 - podocin
  • ACTN4 – Alpha-actinin 4
  • TRPC6 – Canonical transient receptor potential 6
  • INF2 - Inverted formin 2
  • CD2AP
  • R22Q9

References

  1. 1.0 1.1 Warren GV, Korbet SM, Schwartz MM, Lewis EJ (1989). "Minimal change glomerulopathy associated with nonsteroidal antiinflammatory drugs". Am J Kidney Dis. 13 (2): 127–30. PMID 2629709.
  2. 2.0 2.1 Francis KL, Jenis EH, Jensen GE, Calcagno PL (1984). "Gold-associated nephropathy". Arch Pathol Lab Med. 108 (3): 234–8. PMID 6365028.
  3. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A; et al. (2000). "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome". Nat Genet. 24 (4): 349–54. doi:10.1038/74166. PMID 10742096.
  4. Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ; et al. (2000). "Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis". Nat Genet. 24 (3): 251–6. doi:10.1038/73456. PMID 10700177.
  5. Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G; et al. (2011). "TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype". Clin J Am Soc Nephrol. 6 (7): 1626–34. doi:10.2215/CJN.07830910. PMID 21734084.
  6. Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR (2013). "Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis". Kidney Int. 83 (2): 316–22. doi:10.1038/ki.2012.349. PMC 3647680. PMID 23014460.
  7. Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA; et al. (2002). "NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele". J Clin Invest. 110 (11): 1659–66. doi:10.1172/JCI16242. PMC 151634. PMID 12464671.

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