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Year Number of Results
1981 1
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2004 1
2005 1
2006 3
2009 1
2013 1
2016 1
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2018 1
2019 1
2021 4
2022 1
2024 0

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Page 1
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failu …
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the C …
Clinical Analysis of Primary Nephrotic Syndrome Complicated by Plastic Bronchitis in Children.
Jia SL, Ni FF, Ma YJ, Wu YH, Ma WK, Gao XJ. Jia SL, et al. Klin Padiatr. 2021 Mar;233(2):63-68. doi: 10.1055/a-1288-3670. Epub 2021 Mar 8. Klin Padiatr. 2021. PMID: 33684950
OBJECTIVE: To summarize the clinical features of primary nephrotic syndrome (PNS) complicated by plastic bronchitis (PB) in children to provide guidance for treatment. METHODS: We conducted a retrospective review of the clinical data of 25 children hospitalized with …
OBJECTIVE: To summarize the clinical features of primary nephrotic syndrome (PNS) complicated by plastic bronchitis (PB) in ch …
Rituximab treatment for difficult-to-treat nephrotic syndrome in children: a multicenter, retrospective study.
Taşdemir M, Canpolat N, Yıldız N, Özçelik G, Benzer M, Saygılı SK, Özkayin EN, Türkkan ÖN, Balat A, Candan C, Çelakıl M, Yavuz S, Akıncı N, Göknar N, Akgün C, Tülpar S, Alpay H, Sever FL, Bilge İ. Taşdemir M, et al. Turk J Med Sci. 2021 Aug 30;51(4):1781-1790. doi: 10.3906/sag-2012-297. Turk J Med Sci. 2021. PMID: 33581711 Free PMC article.
BACKGROUND/AIM: This study aimed to evaluate the efficacy of rituximab in children with difficult-to-treat nephrotic syndrome, considering the type of disease (steroid-sensitive or -resistant) and the dosing regimen. ...RESULTS: Data from 42 children [20 ster …
BACKGROUND/AIM: This study aimed to evaluate the efficacy of rituximab in children with difficult-to-treat nephrotic syndrome, …
Treatment of idiopathic membranous nephropathy.
Hofstra JM, Fervenza FC, Wetzels JF. Hofstra JM, et al. Nat Rev Nephrol. 2013 Aug;9(8):443-58. doi: 10.1038/nrneph.2013.125. Epub 2013 Jul 2. Nat Rev Nephrol. 2013. PMID: 23820815 Review.
The 2012 Kidney Disease: Improving Global Outcomes (KDIGO) Clinical Practice Guideline for Glomerulonephritis provides guidance for the treatment of iMN. The guideline suggests that immunosuppressive therapy should be restricted to patients with nephrotic syndrom …
The 2012 Kidney Disease: Improving Global Outcomes (KDIGO) Clinical Practice Guideline for Glomerulonephritis provides guidance for the trea …
Management of children with congenital nephrotic syndrome: challenging treatment paradigms.
Dufek S, Holtta T, Trautmann A, Ylinen E, Alpay H, Ariceta G, Aufricht C, Bacchetta J, Bakkaloglu SA, Bayazit A, Cicek RY, Dursun I, Duzova A, Ekim M, Iancu D, Jankauskiene A, Klaus G, Paglialonga F, Pasini A, Printza N, Said Conti V, do Sameiro Faria M, Schmitt CP, Stefanidis CJ, Verrina E, Vidal E, Vondrak K, Webb H, Zampetoglou A, Bockenhauer D, Edefonti A, Shroff R. Dufek S, et al. Nephrol Dial Transplant. 2019 Aug 1;34(8):1369-1377. doi: 10.1093/ndt/gfy165. Nephrol Dial Transplant. 2019. PMID: 30215773
BACKGROUND: Management of children with congenital nephrotic syndrome (CNS) is challenging. Bilateral nephrectomies followed by dialysis and transplantation are practiced in most centres, but conservative treatment may also be effective. ...Excluding patients with m …
BACKGROUND: Management of children with congenital nephrotic syndrome (CNS) is challenging. Bilateral nephrectomies followed b …
Clinical and histopathological features related to time to complete remission in adult-onset minimal change nephrotic syndrome patients with corticosteroid treatment.
Morioka F, Nakatani S, Nishide K, Machiba Y, Uedono H, Tsuda A, Ishimura E, Mori K, Emoto M. Morioka F, et al. Clin Exp Nephrol. 2022 Oct;26(10):955-962. doi: 10.1007/s10157-022-02235-8. Epub 2022 May 19. Clin Exp Nephrol. 2022. PMID: 35587298
BACKGROUND: Minimal change nephrotic syndrome (MCNS) is a common type of nephrotic syndrome in adults, though evidence regarding its clinical and histopathological features related to time to complete remission (CR) is limited. ...RESULTS: Fifty …
BACKGROUND: Minimal change nephrotic syndrome (MCNS) is a common type of nephrotic syndrome in adults, th …
Massive data screening is a second opportunity to improve the management of patients with familial hypercholesterolemia phenotype.
Zamora A, Paluzie G, García-Vilches J, Alonso Gisbert O, Méndez Martínez AI, Plana N, Rodríguez-Borjabad C, Ibarretxe D, Martín-Urda A, Masana L. Zamora A, et al. Clin Investig Arterioscler. 2021 May-Jun;33(3):138-147. doi: 10.1016/j.arteri.2020.11.001. Epub 2021 Feb 19. Clin Investig Arterioscler. 2021. PMID: 33618913 English, Spanish.
The highest LDL-C values were selected. EXCLUSION CRITERIA: nephrotic syndrome, hypothyroidism, Hypothyroid treatment or triglycerides> 400 mg / dL. ...The selected algorithm presented a prevalence of 0.62%. 840 patients with HF-P were detected, 55.8% bein …
The highest LDL-C values were selected. EXCLUSION CRITERIA: nephrotic syndrome, hypothyroidism, Hypothyroid treatment or trigl …
Treatment of severe steroid-dependent nephrotic syndrome (SDNS) in children with tacrolimus.
Sinha MD, MacLeod R, Rigby E, Clark AG. Sinha MD, et al. Nephrol Dial Transplant. 2006 Jul;21(7):1848-54. doi: 10.1093/ndt/gfi274. Epub 2005 Nov 25. Nephrol Dial Transplant. 2006. PMID: 16311257
BACKGROUND: Severe steroid-dependent nephrotic syndrome (SDNS) is a common type of nephrotic syndrome (NS) observed in childhood. ...For CYA and TAC treatment periods, the median NS relapse rate was two and one relapses per year, respectively, a …
BACKGROUND: Severe steroid-dependent nephrotic syndrome (SDNS) is a common type of nephrotic syndrome (NS …
Steroid-dependent nephrotic syndrome in children: histopathology and relapses after cyclophosphamide treatment.
Siegel NJ, Gaudio KM, Krassner LS, McDonald BM, Anderson FP, Kashgarian M. Siegel NJ, et al. Kidney Int. 1981 Mar;19(3):454-9. doi: 10.1038/ki.1981.39. Kidney Int. 1981. PMID: 7241883 Free article.
Children with steroid-dependent frequently relapsing nephrotic syndrome are generally assumed to have a minimal change in histology and therefore to respond favorably to treatment with cyclophosphamide. The clinical course of 38 children with steroid-sensitive frequ …
Children with steroid-dependent frequently relapsing nephrotic syndrome are generally assumed to have a minimal change in hist …
Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome.
Li M, Xu M, Liu W, Gao X. Li M, et al. BMC Pharmacol Toxicol. 2018 Apr 3;19(1):14. doi: 10.1186/s40360-018-0202-9. BMC Pharmacol Toxicol. 2018. PMID: 29615122 Free PMC article.
BACKGROUND: The efficacy of tacrolimus (TAC) is variable in the treatment of nephrotic syndrome (NS), which might be related to genetic variation among patients. ...For ABCB1 G2677 T/A, the clinical efficacy of patients with mutant genotype is 8.683 times tha …
BACKGROUND: The efficacy of tacrolimus (TAC) is variable in the treatment of nephrotic syndrome (NS), which might be related t …
16 results