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Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial

This report describes the rationale and design of a study assessing tolvaptan in children with autosomal dominant polycystic kidney disease (ADPKD). Phase A is a 1-year, randomized, double-blind, placebo-controlled, multicenter trial. Phase B is a 2-year, open-label extension. The target population is at least 60 children aged 12–17 years, diagnosed by family history and/or...

Activation of Calcium-Sensing Receptor increases intracellular calcium and decreases cAMP and mTOR in PKD1 deficient cells

Mariangela Centrone Lambertus van den Heuvel Djalila Mekahli Elena N. Levtchenko Giovanna Valenti OPEN Clinical and fundamental research suggest that altered calcium and cAMP signaling might be the most

Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease

and Martin Konrad, for their support. Author Contributions Conceptualization: SteÂphanie De Rechter, Koenraad Devriendt, Carsten Bergmann, Bert Bammens, Pascal Borry, Franz Schaefer, Djalila Mekahli ... . Data curation: SteÂphanie De Rechter, Jonathan Kringen, Franz Schaefer, Djalila Mekahli. Formal analysis: SteÂphanie De Rechter, Jonathan Kringen. Funding acquisition: SteÂphanie De Rechter, Franz

Paired measurement of urinary creatinine in neonates based on a Jaffe and an enzymatic IDMS-traceable assay

Levtchenko (fundamental clinical investigatorship 1800214 N, 1842013 N and 1801110 N respectively) and Djalila Mekahli and Steven Pauwels (clinical fellowship 1700613 N and 1700314 N) are supported by the Fund

Rationale, design and objectives of ARegPKD, a European ARPKD registry study

Ali Duzova Heike Goebel Dieter Haffner Barbara Hero 1 Bernd Hoppe Thomas Illig Augustina Jankauskiene Norman Klopp Jens Knig Mieczyslaw Litwin Djalila Mekahli Bruno Ranchin Anja Sander Sara Testa 5 Lutz

RENAL DEVELOPMENT AND CYSTIC DISEASES

Introduction and Aims: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). The PKD1 gene lays immediately adjacent to the TSC2 gene. Deletions involving both genes cause a contiguous gene syndrome characterized by severe ADPKD and TSC (PKD1/TSC2-CGS). mTOR inhibitors have...

Cell signalling

Introduction and Aims: Klotho is a protein that has anti-aging properties and is known to function as an obligate co-receptor of FGF23 in the regulation of phosphate homeostasis and also to be involved in insulin/IGF1 and WNT signaling, suggesting that Klotho has several biological properties in physiological and pathophysiological conditions. It has been reported that the renal...