Abstract:
BACKGROUND:Genetic susceptibility to atypical hemolytic uremic syndrome (aHUS) may lie within genes regulating or activating the alternate complement and related pathways converging on endothelial cell activation. METHODS:We tested 32 Indian patients of aHUS negative for antibodies to complement factor H for genetic variations in a panel of 15 genes, i.e., CFH, CFHR1-5, CFI, CFB, C3, CD46, MASP2, DGKE, ADAMTS13, THBD and PLG using next-generation DNA sequencing and for copy number variation in CFHR1-3. RESULTS:Despite absence of a public database of exome variations in the Indian population and limited functional studies, we could establish a genetic diagnosis in 6 (18.8%) patients using a stringent scheme of prioritization. One patient carried a likely pathogenic variation. The number of patients carrying possibly pathogenic variation was as follows: 1 variation: 5 patients, 2 variations: 9 patients, 3 variations: 5 patients, 4 variations: 9 patients, 5 variations: 2 patients and 6 variations: 2 patients. Homozygous deletion of CFHR1-3 was present in five patients; none of these carried a diagnostic genetic variation. Patients with or without diagnostic variation did not differ significantly in terms of enrichment of genetic variations that were rare/novel or predicted deleterious, or for possible environmental triggers. CONCLUSION:We conclude that genetic testing for multiple genes in patients with aHUS negative for anti-FH antibodies reveals multiple candidate variations that require prioritization. Population data on variation frequency of the Indian population and supportive functional studies are likely to improve diagnostic yield.
journal_name
Clin Exp Nephroljournal_title
Clinical and experimental nephrologyauthors
Thergaonkar RW,Narang A,Gurjar BS,Tiwari P,Puraswani M,Saini H,Sinha A,Varma B,Mukerji M,Hari P,Bagga Adoi
10.1007/s10157-017-1478-6subject
Has Abstractpub_date
2018-06-01 00:00:00pages
653-660issue
3eissn
1342-1751issn
1437-7799pii
10.1007/s10157-017-1478-6journal_volume
22pub_type
杂志文章abstract::We describe here two sisters with nephronophthisis, which was not detected until the development of endstage renal failure. Twenty- and 15-year-old female siblings were admitted to our hospital for further examination of renal dysfunction. No urinalysis abnormalities had been found in yearly health checks in either pa...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
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journal_title:Clinical and experimental nephrology
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journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,已发布勘误
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journal_title:Clinical and experimental nephrology
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更新日期:2006-09-01 00:00:00
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更新日期:2003-06-01 00:00:00
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journal_title:Clinical and experimental nephrology
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更新日期:2012-12-01 00:00:00
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更新日期:2006-03-01 00:00:00
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更新日期:2019-08-01 00:00:00
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journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
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更新日期:2019-04-01 00:00:00
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更新日期:2014-06-01 00:00:00
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更新日期:2018-10-01 00:00:00
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pub_type: 临床试验,杂志文章,多中心研究
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pub_type: 杂志文章
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更新日期:2020-02-01 00:00:00
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journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
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更新日期:2017-12-01 00:00:00
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更新日期:2014-02-01 00:00:00