多瑙河地区性家族性肾病

多瑙河地区性家族性肾病
Danubian endemic familial nephropathy
多瑙河地区性家族性肾病; Danubian endemic familial nephropathy
	巴尔干半岛DEFN高流行地区
类型	间质性肾炎、奥尔波特综合征[*]
分类和外部资源
医学专科	肾脏科
ICD-11	GB55.0
ICD-10	N15.0
OMIM	124100
DiseasesDB	31409
MeSH	D001449
	[编辑此条目的维基数据]

多瑙河地区性家族性肾病（Danubian endemic familial nephropathy、DEFN），也被称为巴尔干半岛地方性肾病（Balkan endemic nephropathy、BEN）^[1]，是间质性肾炎的一种形式。它最早是在1920年代在克罗地亚、波斯尼亚及黑塞哥维那、塞尔维亚、罗马尼亚及保加利亚的现代化国家中沿著多瑙河、及其主要支流的几个小独立社区被发现及确定。

历史

首次官方正式公布了疾病的描述是由保加利亚肾病学家"尤多·坦切夫"(Yoto Tanchev)博士及他的研究团队在1956年的保加利亚的医学杂志"Savremenna Medizina"上发表，^[2] 且普遍被国际肾脏病学界承认的病症。^[3] 他们的研究是基于围绕著保加利亚弗拉察镇的一些村庄居民所进行的广泛筛选而得。

研究团队对这种不寻常的地方性肾脏的疾病之认识所作出贡献是其"非典型的慢性肾炎症状"之描述，即他们的描述只有在成年人有发病率(小孩子没有影响)、无高血压、手掌和脚掌的皮肤黄染(xanthochromia、"坦切夫"征状)、早期的低色指数性贫血(hypochromic anemia)、无蛋白尿，以及肾功能衰竭缓慢的进展。

症状和预后

本病主要影响到的人为30岁到60岁之间。移居到流行病地区的人们直到在那里生活了15年之后才会发病、之前不会。

症状包括虚弱，贫血，及铜色皮肤变色。

病因

DEFN的病因并不十分确定，^[4]尽管长期食用含有马兜铃酸的食物已被认为是DEFN、及其他相关病症的主要致病因素。^[5]^[6]^[7] 曝露于马兜铃酸与高发病率的尿道上皮(Urothelium)肿瘤。^[8]^[9]

注释

^ OMIM 124100
^ Tanchev Y, Evstatiev Z, Dorossiev D, Pencheva J, Tzvetkova G. Studies on the nephritides in the District of Vratza. Savremena Medicina 1956; 7: 14–29 (Bulgarian).
^ Tanchev Y, Dorossiev D. The first clinical description of Balkan endemic nephropathy (1956) and its validity 35 years later. IARC Sci. Publ. 1991, (115): 21–8. PMID 1820335.
^ Batuman V. Fifty years of Balkan endemic nephropathy: daunting questions, elusive answers. Kidney Int. 2006, 69 (4): 644–6. PMID 16467889. doi:10.1038/sj.ki.5000231.
^ Gluhovschi G, Margineanu F, Velciov S, Gluhovschi C, Bob F, Petrica L, Bozdog G, Trandafirescu V, Modalca M. Fifty years of Balkan endemic nephropathy in Romania: some aspects of the endemic focus in the Mehedinti county. Clin. Nephrol. January 2011, 75 (1): 34–48. PMID 21176749.
^ Geacintov, Nicholas E. & Broyde, Suse (编). Introduction and perspectives on the Chemistry and Biology of DNA Damage. The Chemical Biology of DNA Damage. Wiley-VCH. 2010: 7. ISBN 978-3-527-32295-4.
^ Wild, Chris et al. (编). Molecular epidemiology of chronic diseases. John Wiley & Sons. 2008: 113. ISBN 978-0-470-02743-1.
^ Ronco, Claudio et al. (编). Critical care nephrology. Elsevier Health Sciences. 2008: 1699. ISBN 978-1-4160-4252-5.
^ Chen CH, Dickman KG, Moriya M, Zavadil J, Sidorenko VS, Edwards KL, Gnatenko DV, Wu L, Turesky RJ, Wu XR, Pu YS, Grollman AP. Aristolochic acid-associated urothelial cancer in Taiwan. Proc. Natl. Acad. Sci. U.S.A. May 2012, 109 (21): 8241–6. PMC 3361449 . PMID 22493262. doi:10.1073/pnas.1119920109.

参见

肾病变
桔霉素(Citrinin)
赭曲霉毒素A(Ochratoxin A)

外部链接

synd/1341 - Who Named It?
1120927774 于 GPnotebook
Slideshow at army.mil
BBC Horizon The curse of Karash（英语：List of Horizon episodes#Series 27: 1990-1991）

[1] OMIM 124100

[2] Tanchev Y, Evstatiev Z, Dorossiev D, Pencheva J, Tzvetkova G. Studies on the nephritides in the District of Vratza. Savremena Medicina 1956; 7: 14–29 (Bulgarian).

[Tanchev_&_Dorossiev-3] Tanchev Y, Dorossiev D. The first clinical description of Balkan endemic nephropathy (1956) and its validity 35 years later. IARC Sci. Publ. 1991, (115): 21–8. PMID 1820335.

[4] Batuman V. Fifty years of Balkan endemic nephropathy: daunting questions, elusive answers. Kidney Int. 2006, 69 (4): 644–6. PMID 16467889. doi:10.1038/sj.ki.5000231.

[5] Gluhovschi G, Margineanu F, Velciov S, Gluhovschi C, Bob F, Petrica L, Bozdog G, Trandafirescu V, Modalca M. Fifty years of Balkan endemic nephropathy in Romania: some aspects of the endemic focus in the Mehedinti county. Clin. Nephrol. January 2011, 75 (1): 34–48. PMID 21176749.

[6] Geacintov, Nicholas E. & Broyde, Suse (编). Introduction and perspectives on the Chemistry and Biology of DNA Damage. The Chemical Biology of DNA Damage. Wiley-VCH. 2010: 7. ISBN 978-3-527-32295-4.

[7] Wild, Chris et al. (编). Molecular epidemiology of chronic diseases. John Wiley & Sons. 2008: 113. ISBN 978-0-470-02743-1.

[8] Ronco, Claudio et al. (编). Critical care nephrology. Elsevier Health Sciences. 2008: 1699. ISBN 978-1-4160-4252-5.

[9] Chen CH, Dickman KG, Moriya M, Zavadil J, Sidorenko VS, Edwards KL, Gnatenko DV, Wu L, Turesky RJ, Wu XR, Pu YS, Grollman AP. Aristolochic acid-associated urothelial cancer in Taiwan. Proc. Natl. Acad. Sci. U.S.A. May 2012, 109 (21): 8241–6. PMC 3361449 . PMID 22493262. doi:10.1073/pnas.1119920109.

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