Acute tubulointerstitial nephritis in two sisters with simultaneous uveitis in one

Derakhshan, Ali; Derakhshan, Dorna

doi:10.4103/1319-2442.335470

Cited by 2 publications

(5 citation statements)

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“…10A). ATIN association signals that colocalization also applied in the PLEKHA5 locus (rs34495079, intronic variant, P51.67310 24 , OR, 2.25, 95% CI, 1.48 to 3.43) (Supplemental Figure 10B). Because rs35087390 and rs2417771 were absent in the IgA nephropathy dataset, we checked the LD and found that both variants (rs112025116 and rs34495079) were in high LD with the above two top SNPs (both D951.0).…”

Section: Confirmation Of Association By Taking Iga Glomerulonephritis...mentioning

confidence: 92%

“…35 Samples with a sex mismatch, abnormal heterozygosity, or proportion of missing variants .2% were removed. Variants with low minor allelic frequency (,1%), missing calls .5%, deviation from the Hardy-Weinberg equilibrium (P value ,1310 24 ), or which were monomorphic were removed. Close relatives were identified as having an estimated identity-by-descent proportion of genome-wide shared alleles of .0.1875.…”

Section: Subjects Genotyping and Quality Controlmentioning

confidence: 99%

“…37 Prephasing was first performed with Eagle v2.4 with array build of GRCh37/hg19. We were restricted to all imputed common variants with minor allele frequency .1%, Hardy-Weinberg equilibrium P value .1310 24 , and imputation quality (INFO) r 2 .0.8. Three million forty-four thousand forty-four autosomal variants in the GSA chip and 3,046,661 variants in the ASA chip passed QC for meta-analysis.…”

Section: Imputationmentioning

confidence: 99%

“…17 In addition, there have been some patients reporting that TINU can be observed with identical histological features and similar clinical symptoms in monozygotic twins or siblings. [22][23][24] Several studies have reported HLA associations in TINU. [25][26][27][28][29] Apart from polymorphisms in the cytochrome P450 enzyme gene in D-ATIN, certain single nucleotide polymorphisms (SNPs) in HLA or cytokine genes (i.e., IL1, CTLA4) may confer susceptibility to the disease according to pathophysiological basis.…”

Section: Introductionmentioning

confidence: 99%

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Genome-Wide Association Study in Acute Tubulointerstitial Nephritis

Zhou

Xie

et al. 2023

JASN

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Background Acute tubulointerstitial nephritis (ATIN) is a rare immune-related disease, accounting for approximately 10% of patients with unexplained AKI. Previous elucidation of the relationship between genetic factors that contribute to its pathogenesis was hampered because of small sample sizes and candidate gene design.Methods We undertook the first two-stage genome-wide association study and meta-analysis involving 544 kidney biopsy-defined patients with ATIN and 2346 controls of Chinese ancestry. We conducted statistical fine-mapping analysis, provided functional annotations of significant variants, estimated single nucleotide polymorphism (SNP)-based heritability, and checked genotype and subphenotype correlations.Results Two genome-wide significant loci, rs35087390 of HLA-DQA1 (P53.01310 239 ) on 6p21.32 and rs2417771 of PLEKHA5 on 12p12.3 (P52.14310 28 ), emerged from the analysis. HLA imputation using two reference panels suggested that HLA-DRB1*14 mainly drives the HLA risk association. HLA-DRB1 residue 60 belonging to pocket P10 was the key amino acid position. The SNP-based heritability estimates with and without the HLA locus were 20.43% and 10.35%, respectively. Different clinical subphenotypes (drug-related or tubulointerstitial nephritis and uveitis syndrome) seemed to share the same risk alleles. However, the HLA risk genotype was associated with disease severity and response rate to immunosuppressive therapy. ConclusionsWe identified two candidate genome regions associated with susceptibility to ATIN. The findings suggest that a genetically conferred risk of immune dysregulation is involved in the pathogenesis of ATIN.

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Section: Confirmation Of Association By Taking Iga Glomerulonephritis...mentioning

confidence: 92%

Section: Subjects Genotyping and Quality Controlmentioning

confidence: 99%

Section: Imputationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genome-Wide Association Study in Acute Tubulointerstitial Nephritis

Zhou

Xie

et al. 2023

JASN

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“…Nutností je vyloučení systémových onemocnění, jako je sarkoidóza, Sjögrenův syndrom a systémový lupus erytematosus. Mohou být přítomny i granulomy kostní dřeně [11]. Sonografie může prokázat výrazný edém parenchymu ledvin [2].…”

Section: Kazuistikaunclassified

Tubulointerstitial Nephritis With Uveitis (Tinu Syndrome). A Case Report

Kurašová¹,

Orság²,

Klementa³

et al. 2022

CSO

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In this case report, we describe the case of a 50-year-old woman referred by her general practitioner to a pulmonologist in order to investigate persistent fever and elevation of C-reactive protein despite antibiotic treatment following a respiratory infection. The patient was examined extensively, during which rheumatology, gastroenterology, nephrology, ophthalmology, laboratory and imaging tests were performed. Due to a rapid progression of renal insufficiency with active urinary sediment, the patient was referred for a renal biopsy, which confirmed tubulointerstitial nephritis, followed by a diagnosis of bilateral anterior uveitis two months later - genetic testing was also conducted, which confirmed the diagnosis of tubulointerstitial nephritis with uveitis syndrome. Steroid treatment brought about a gradual reduction of proteinuria and a stabilisation of renal function.

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Acute tubulointerstitial nephritis in two sisters with simultaneous uveitis in one

Cited by 2 publications

References 0 publications

Genome-Wide Association Study in Acute Tubulointerstitial Nephritis

Genome-Wide Association Study in Acute Tubulointerstitial Nephritis

Tubulointerstitial Nephritis With Uveitis (Tinu Syndrome). A Case Report

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