Browsing by Author "Gellermann J."

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    Genetic screening in adolescents with steroid-resistant nephrotic syndrome
    (Nature Publishing Group, 2013) Lipska B.S.; Iatropoulos P.; Maranta R.; Caridi G.; Ozaltin F.; Anarat A.; Balat A.; Gellermann J.; Trautmann A.; Erdogan O.; Saeed B.; Emre S.; Bogdanovic R.; Azocar M.; Balasz-Chmielewska I.; Benetti E.; Caliskan S.; Mir S.; Melk A.; Ertan P.; Baskin E.; Jardim H.; Davitaia T.; Wasilewska A.; Drozdz D.; Szczepanska M.; Jankauskiene A.; Higuita L.M.S.; Ardissino G.; Ozkaya O.; Kuzma-Mroczkowska E.; Soylemezoglu O.; Ranchin B.; Medynska A.; Tkaczyk M.; Peco-Antic A.; Akil I.; Jarmolinski T.; Firszt-Adamczyk A.; Dusek J.; Simonetti G.D.; Gok F.; Gheissari A.; Emma F.; Krmar R.T.; Fischbach M.; Printza N.; Simkova E.; Mele C.; Marco Ghiggeri G.; Schaefer F.
    Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome. © 2013 International Society of Nephrology.
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    Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children
    (Elsevier B.V., 2019) Azukaitis K.; Ju W.; Kirchner M.; Nair V.; Smith M.; Fang Z.; Thurn-Valsassina D.; Bayazit A.; Niemirska A.; Canpolat N.; Bulut I.K.; Yalcinkaya F.; Paripovic D.; Harambat J.; Cakar N.; Alpay H.; Lugani F.; Mencarelli F.; Civilibal M.; Erdogan H.; Gellermann J.; Vidal E.; Tabel Y.; Gimpel C.; Ertan P.; Yavascan O.; Melk A.; Querfeld U.; Wühl E.; Kretzler M.; Schaefer F.; Arbeiter K.; Rosales A.; Dusek J.; Zaloszyc A.; Liebau M.; Weber L.; Muschiol E.; Büscher R.; Oh J.; Thurn-Valassina D.; Haffner D.; John U.; Wygoda S.; Jeck N.; Wigger M.; Testa S.; Murer L.; Matteucci C.; Jankauskiene A.; Drozdz D.; Zurowska A.; Zaniew M.; Litwin M.; Nimierska A.; Teixeira A.; Peco-Antic A.; Laube G.; Anarat A.; Duzova A.; Bilginer Y.; Caliskan S.; Mir S.; Sözeri B.; Kranz B.; Dorn B.; Baskin E.; Soylemezoglu O.; Emre S.; Candan C.; Kiyak A.; Ozcelik G.; Shroff R.; Rachin B.; Szczepanska M.; Donmez O.; Balat A.; Aksu N.; Yilmaz E.; Bakkaloglu A.; Ozaltin F.; Sallay P.; Bonzel K.-E.; Wingen A.-M.; Balasz I.; Trivelli A.; Perfumo F.; Müller-Wiefel D.-E.; Möller K.; Offner G.; Enke B.; Hadtstein C.; Mehls O.; Hohbach-Hohenfellner K.; Jeck N.; Klaus G.; Ardissino G.; Montini G.; Charbit M.; Niaudet P.; Afonso A.C.; Fernandes-Teixeira A.; Picca S.; Berg U.B.; Celsi G.; Fischbach M.; Terzic J.; Fydryk J.; Urasinski T.; Coppo R.; Peruzzi L.; Grenda R.; Neuhaus T.J.
    Urinary epidermal growth factor (uEGF) has recently been identified as a promising biomarker of chronic kidney disease (CKD) progression in adults with glomerular disease. Low levels of uEGF predict CKD progression and appear to reflect the extent of tubulointerstitial damage. We investigated the relevance of uEGF in pediatric CKD. We performed a post hoc analysis of the Cardiovascular Comorbidity in Children with CKD (4C) study, which prospectively follows children aged 6–17 years with baseline estimated glomerular filtration rate (eGFR) of 10–60 ml/min/1.73 m2. uEGF levels were measured in archived urine collected within 6 months of enrollment. Congenital abnormalities of the kidney and urinary tract were the most common cause of CKD, with glomerular diseases accounting for <10% of cases. Median eGFR at baseline was 28 ml/min/1.73 m2, and 288 of 623 participants (46.3%) reached the composite endpoint of CKD progression (50% eGFR loss, eGFR < 10 ml/min/1.73 m2, or initiation of renal replacement therapy). In a Cox proportional hazards model, higher uEGF/Cr was associated with a decreased risk of CKD progression (HR 0.76; 95% CI 0.69–0.84) independent of age, sex, baseline eGFR, primary kidney disease, proteinuria, and systolic blood pressure. The addition of uEGF/Cr to a model containing these variables resulted in a significant improvement in C-statistics, indicating better prediction of the 1-, 2- and 3-year risk of CKD progression. External validation in a prospective cohort of 222 children with CKD demonstrated comparable results. Thus, uEGF may be a useful biomarker to predict CKD progression in children with CKD. © 2019 International Society of Nephrology