Familial renal amyloidosis
| Familial renal amyloidosis | |
|---|---|
 |
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| This condition is inherited in an autosomal dominant manner | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E85.0 |
| ICD-9-CM | 277.3 |
| OMIM | 105200 |
| DiseasesDB | 33335 |
| eMedicine | med/3379 |
Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) 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 : JASN. 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. 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.
- ^ 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.
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