(Redirected from
Familial visceral amyloidosis)
| Familial renal amyloidosis | |
|---|---|
| Other names | Familial visceral amyloidosis, hereditary amyloid nephropathy |
 | |
| This condition is inherited in an autosomal dominant manner | |
| Specialty | Nephrology |
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney. [1]
It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). [2] [3] and, less commonly, with congenital mutations in apolipoprotein A1 [4] and lysozyme. [5] [6]
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950. [7] [8]
References
- ^ "Amyloid".
- ^ Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN (2009). "Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis". Journal of the American Society of Nephrology. 20 (2): 444–51. doi: 10.1681/ASN.2008060614. PMC 2637055. PMID 19073821.
- ^ Uemichi T, Liepnieks JJ, Gertz MA, Benson MD (September 1998). "Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis". Amyloid. 5 (3): 188–92. doi: 10.3109/13506129809003844. PMID 9818055.
- ^ Soutar AK, Hawkins PN, Vigushin DM, et al. (August 1992). "Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis". Proc. Natl. Acad. Sci. U.S.A. 89 (16): 7389–93. Bibcode: 1992PNAS...89.7389S. doi: 10.1073/pnas.89.16.7389. PMC 49715. PMID 1502149.
- ^ Granel B, Serratrice J, Disdier P, et al. (March 2005). "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med. 118 (3): 321–2. doi: 10.1016/j.amjmed.2004.10.022. PMID 15745733.
- ^ Granel B, Valleix S, Serratrice J, et al. (January 2006). "Lysozyme amyloidosis: report of 4 cases and a review of the literature". Medicine (Baltimore). 85 (1): 66–73. doi: 10.1097/01.md.0000200467.51816.6d. PMID 16523055. S2CID 9761588.
- ^ Ostertag B. (1932). "Demonstration einer eigenartigen familiaren paraamyloidose". Zentralbl Aug Pathol. 56: 253–4.
- ^ Ostertag, B. (1950). "Familiaere Amyloid-erkrankung". Z. Menschl. Vererb. Konstitutionsl. 30: 105–115.
Further reading
- Li, Danyang; Liu, Dan; Xu, Hui; Yu, Xiao-juan; Zhou, Fu-de; Zhao, Ming-hui; Wang, Su-xia (2019). "Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition". BMC Nephrology. 20 (1): 476. doi: 10.1186/s12882-019-1667-5. ISSN 1471-2369. PMC 6929319. PMID 31870425.
- Yamanaka, S.; Miyazaki, Y.; Kasai, K.; Ikeda, S.-i.; Kiuru-Enari, S.; Hosoya, T. (March 27, 2013). "Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases". Clinical Kidney Journal. 6 (2). Oxford University Press (OUP): 189–193. doi: 10.1093/ckj/sft007. ISSN 2048-8505. PMC 4432447. PMID 26019848.
External links
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
(Redirected from
Familial visceral amyloidosis)
| Familial renal amyloidosis | |
|---|---|
| Other names | Familial visceral amyloidosis, hereditary amyloid nephropathy |
|
| |
| This condition is inherited in an autosomal dominant manner | |
| Specialty | Nephrology |
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney. [1]
It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). [2] [3] and, less commonly, with congenital mutations in apolipoprotein A1 [4] and lysozyme. [5] [6]
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950. [7] [8]
References
- ^ "Amyloid".
- ^ Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN (2009). "Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis". Journal of the American Society of Nephrology. 20 (2): 444–51. doi: 10.1681/ASN.2008060614. PMC 2637055. PMID 19073821.
- ^ Uemichi T, Liepnieks JJ, Gertz MA, Benson MD (September 1998). "Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis". Amyloid. 5 (3): 188–92. doi: 10.3109/13506129809003844. PMID 9818055.
- ^ Soutar AK, Hawkins PN, Vigushin DM, et al. (August 1992). "Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis". Proc. Natl. Acad. Sci. U.S.A. 89 (16): 7389–93. Bibcode: 1992PNAS...89.7389S. doi: 10.1073/pnas.89.16.7389. PMC 49715. PMID 1502149.
- ^ Granel B, Serratrice J, Disdier P, et al. (March 2005). "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med. 118 (3): 321–2. doi: 10.1016/j.amjmed.2004.10.022. PMID 15745733.
- ^ Granel B, Valleix S, Serratrice J, et al. (January 2006). "Lysozyme amyloidosis: report of 4 cases and a review of the literature". Medicine (Baltimore). 85 (1): 66–73. doi: 10.1097/01.md.0000200467.51816.6d. PMID 16523055. S2CID 9761588.
- ^ Ostertag B. (1932). "Demonstration einer eigenartigen familiaren paraamyloidose". Zentralbl Aug Pathol. 56: 253–4.
- ^ Ostertag, B. (1950). "Familiaere Amyloid-erkrankung". Z. Menschl. Vererb. Konstitutionsl. 30: 105–115.
Further reading
- Li, Danyang; Liu, Dan; Xu, Hui; Yu, Xiao-juan; Zhou, Fu-de; Zhao, Ming-hui; Wang, Su-xia (2019). "Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition". BMC Nephrology. 20 (1): 476. doi: 10.1186/s12882-019-1667-5. ISSN 1471-2369. PMC 6929319. PMID 31870425.
- Yamanaka, S.; Miyazaki, Y.; Kasai, K.; Ikeda, S.-i.; Kiuru-Enari, S.; Hosoya, T. (March 27, 2013). "Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases". Clinical Kidney Journal. 6 (2). Oxford University Press (OUP): 189–193. doi: 10.1093/ckj/sft007. ISSN 2048-8505. PMC 4432447. PMID 26019848.
External links
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| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |