Minimal change disease causes: Difference between revisions
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==Overview== | ==Overview== | ||
Most cases of minimal change disease occur sporadically with no clear cause. Few cases occur due to genetic | Most cases of minimal change disease occur sporadically with no clear cause. Few cases occur due to [[genetic mutation]]s. | ||
==Causes== | ==Causes== | ||
===Environmental=== | ===Environmental=== | ||
Observation studies noted that in the minority of cases, MCD is preceded by the following environmental conditions<ref name="pmid2629709">{{cite journal| author=Warren GV, Korbet SM, Schwartz MM, Lewis EJ| title=Minimal change glomerulopathy associated with nonsteroidal antiinflammatory drugs. | journal=Am J Kidney Dis | year= 1989 | volume= 13 | issue= 2 | pages= 127-30 | pmid=2629709 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2629709 }} </ref><ref name="pmid6365028">{{cite journal| author=Francis KL, Jenis EH, Jensen GE, Calcagno PL| title=Gold-associated nephropathy. | journal=Arch Pathol Lab Med | year= 1984 | volume= 108 | issue= 3 | pages= 234-8 | pmid=6365028 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6365028 }} </ref>: | Observation studies noted that in the minority of cases, MCD is preceded by the following environmental conditions<ref name="pmid2629709">{{cite journal| author=Warren GV, Korbet SM, Schwartz MM, Lewis EJ| title=Minimal change glomerulopathy associated with nonsteroidal antiinflammatory drugs. | journal=Am J Kidney Dis | year= 1989 | volume= 13 | issue= 2 | pages= 127-30 | pmid=2629709 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2629709 }} </ref><ref name="pmid6365028">{{cite journal| author=Francis KL, Jenis EH, Jensen GE, Calcagno PL| title=Gold-associated nephropathy. | journal=Arch Pathol Lab Med | year= 1984 | volume= 108 | issue= 3 | pages= 234-8 | pmid=6365028 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6365028 }} </ref>: | ||
*Upper respiratory tract infection | *[[Upper respiratory tract infection]] | ||
*Allergy to bee sting | *[[Allergy]] to [[bee sting]] | ||
*NSAID | *[[NSAID]] | ||
*Gold | *[[Gold]] | ||
*Penicillamine | *[[Penicillamine]] | ||
*Ampicillin | *[[Ampicillin]] | ||
*Mercury | *[[Mercury]] | ||
*Hodgkin’s lymphoma | *[[Hodgkin’s lymphoma]] | ||
*Non-Hodgkin’s lymphoma | *[[Non-Hodgkin’s lymphoma]] | ||
*Leukemia | *[[Leukemia]] | ||
===Genetic=== | ===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. | 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:<ref name="pmid10742096">{{cite journal| author=Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A et al.| title=NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. | journal=Nat Genet | year= 2000 | volume= 24 | issue= 4 | pages= 349-54 | pmid=10742096 | doi=10.1038/74166 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10742096 }} </ref><ref name="pmid10700177">{{cite journal| author=Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ et al.| title=Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. | journal=Nat Genet | year= 2000 | volume= 24 | issue= 3 | pages= 251-6 | pmid=10700177 | doi=10.1038/73456 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10700177 }} </ref><ref name="pmid21734084">{{cite journal| author=Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G et al.| title=TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. | journal=Clin J Am Soc Nephrol | year= 2011 | volume= 6 | issue= 7 | pages= 1626-34 | pmid=21734084 | doi=10.2215/CJN.07830910 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21734084 }} </ref><ref name="pmid23014460">{{cite journal| author=Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR| title=Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. | journal=Kidney Int | year= 2013 | volume= 83 | issue= 2 | pages= 316-22 | pmid=23014460 | doi=10.1038/ki.2012.349 | pmc=PMC3647680 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23014460 }} </ref><ref name="pmid12464671">{{cite journal| author=Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA et al.| title=NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. | journal=J Clin Invest | year= 2002 | volume= 110 | issue= 11 | pages= 1659-66 | pmid=12464671 | doi=10.1172/JCI16242 | pmc=PMC151634 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12464671 }} </ref> | ||
* NPHS1 – nephrin | * NPHS1 – [[nephrin]] | ||
*NPHS2 - podocin | *NPHS2 - [[podocin]] | ||
*ACTN4 – Alpha-actinin 4 | *ACTN4 – Alpha-actinin 4 | ||
*TRPC6 – Canonical transient receptor potential 6 | *TRPC6 – Canonical transient receptor potential 6 | ||
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{{WS}} | {{WS}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Kidney diseases]] | [[Category:Kidney diseases]] | ||
[[Category:Urology]] | [[Category:Urology]] | ||
Revision as of 15:57, 5 April 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Yazan Daaboul, Serge Korjian
Overview
Most cases of minimal change disease occur sporadically with no clear cause. Few cases occur due to genetic mutations.
Causes
Environmental
Observation studies noted that in the minority of cases, MCD is preceded by the following environmental conditions[1][2]:
- Upper respiratory tract infection
- Allergy to bee sting
- NSAID
- Gold
- Penicillamine
- Ampicillin
- Mercury
- Hodgkin’s lymphoma
- Non-Hodgkin’s lymphoma
- Leukemia
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
- ↑ 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.
- ↑ Francis KL, Jenis EH, Jensen GE, Calcagno PL (1984). "Gold-associated nephropathy". Arch Pathol Lab Med. 108 (3): 234–8. PMID 6365028.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.