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Author Djalila Mekahli

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Glomerular Filtration Rate in Former Extreme Low Birth Weight Infants over the Full Pediatric Age Range: A Pooled Analysis.

Elise Goetschalckx, Djalila Mekahli, Elena Levtchenko, Karel Allegaert,

Various cohort studies document a lower glomerular filtration rate (GFR) in former extremely low birth weight (ELBW, <1000 g) neonates throughout childhood when compared to term controls. The current aim is to pool these studies to describe the GFR pattern over the pediatric age range. To do so, we conducted ... Read more >>

Int J Environ Res Public Health (International journal of environmental research and public health)
[2020, 17(6):]

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Bortezomib for autoimmune hemolytic anemia after intestinal transplantation.

Noël Knops, Marie-Paule Emonds, Jean Herman, Elena Levtchenko, Djalila Mekahli, Jacques Pirenne, Chris Van Geet, Daan Dierickx,

AIHA is rare in the general population and associated with a mortality of 8%. In contrast, AIHA occurs in up to 12.2% of cases after intestinal transplantation and is associated with mortality up to 50%. Treatment entails a "step-up" approach including corticosteroids, IvIg, plasmapheresis, and rituximab. However, AIHA after transplantation ... Read more >>

Pediatr Transplant (Pediatric transplantation)
[2020, 24(4):e13700]

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Implications of early diagnosis of autosomal dominant polycystic kidney disease: A post hoc analysis of the TEMPO 3:4 trial.

Peter Janssens, François Jouret, Bert Bammens, Max C Liebau, Franz Schaefer, Ann Dandurand, Ronald D Perrone, Roman-Ulrich Müller, Christina S Pao, Djalila Mekahli,

It is unknown whether early diagnosis of autosomal dominant polycystic kidney disease (ADPKD) can enable earlier management and improve outcomes. We conducted a post hoc analysis of data from the TEMPO 3:4 trial. Subjects were stratified by ADPKD diagnosis at age ≤18 (childhood diagnosis [CD]) or>18 (adulthood diagnosis [AD]). Groups ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4294]

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Glomerular Filtration Rate in Former Extreme Low Birth Weight Infants over the Full Pediatric Age Range: A Pooled Analysis

Elise Goetschalkx, Djalila Mekahli, Elena Levtchenko, Karel Allegaert,

Different cohort studies documented a lower glomerular filtration rate (GFR) in former extremely low birth weight (ELBW, &lt;1000 g) neonates throughout childhood when compared to term controls. The current aim is to pool these studies to describe the GFR pattern over the pediatric age range. To do so, we conducted ... Read more >>

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International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.

Charlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, Luc Breysem, Melissa A Cadnapaphornchai, Metin Cetiner, Jan Dudley, Francesco Emma, Martin Konrad, Tess Harris, Peter C Harris, Jens König, Max C Liebau, Matko Marlais, Djalila Mekahli, Alison M Metcalfe, Jun Oh, Ronald D Perrone, Manish D Sinha, Andrea Titieni, Roser Torra, Stefanie Weber, Paul J D Winyard, Franz Schaefer,

These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by ... Read more >>

Nat Rev Nephrol (Nature reviews. Nephrology)
[2019, 15(11):713-726]

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ADPedKD: A Global Online Platform on the Management of Children With ADPKD.

Stéphanie De Rechter, Detlef Bockenhauer, Lisa M Guay-Woodford, Isaac Liu, Andrew J Mallett, Neveen A Soliman, Lucimary C Sylvestre, Franz Schaefer, Max C Liebau, Djalila Mekahli, ,

Background:Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and ... Read more >>

Kidney Int Rep (Kidney international reports)
[2019, 4(9):1271-1284]

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Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Kathrin Burgmaier, Samuel Kilian, Bert Bammens, Thomas Benzing, Heiko Billing, Anja Büscher, Matthias Galiano, Franziska Grundmann, Günter Klaus, Djalila Mekahli, Laurence Michel-Calemard, Gordana Milosevski-Lomic, Bruno Ranchin, Katja Sauerstein, Susanne Schaefer, Rukshana Shroff, Rosalie Sterenborg, Sarah Verbeeck, Lutz T Weber, Dorota Wicher, Elke Wühl, Jörg Dötsch, Franz Schaefer, Max C Liebau,

Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. Here, we describe forty-nine patients with longitudinal ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):7919]

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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.

Franz Schaefer, Djalila Mekahli, Francesco Emma, Rodney D Gilbert, Detlef Bockenhauer, Melissa A Cadnapaphornchai, Lily Shi, Ann Dandurand, Kimberly Sikes, Susan E Shoaf,

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 ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2019, 178(7):1013-1021]

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Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.

Leen Moens, Mieke Gouwy, Barbara Bosch, Oleksandr Pastukhov, Alejandro Nieto-Patlàn, Ulrich Siler, Giorgia Bucciol, Djalila Mekahli, François Vermeulen, Lars Desmet, Sophie Maebe, Helena Flipts, Anniek Corveleyn, Despina Moshous, Pierre Philippet, Stuart G Tangye, Bertrand Boisson, Jean-Laurent Casanova, Benoit Florkin, Sofie Struyf, Janine Reichenbach, Jacinta Bustamante, Luigi D Notarangelo, Isabelle Meyts,

DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves various cellular functions including the reorganization of the actin cytoskeleton in lymphocytes and neutrophils and production of reactive oxygen species in neutrophils. Since 2015, six unrelated patients with combined immunodeficiency and early-onset severe viral infections caused by bi-allelic loss-of-function ... Read more >>

J. Clin. Immunol. (Journal of clinical immunology)
[2019, 39(3):298-308]

Cited: 1 time

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Unmet needs and challenges for follow-up and treatment of autosomal dominant polycystic kidney disease: the paediatric perspective.

Stéphanie De Rechter, Bert Bammens, Franz Schaefer, Max C Liebau, Djalila Mekahli,

Awareness is growing that the clinical course of autosomal dominant polycystic kidney disease (ADPKD) already begins in childhood, with a broad range of both symptomatic and asymptomatic features. Knowing that parenchymal destruction with cyst formation and growth starts early in life, it seems reasonable to assume that early intervention may ... Read more >>

Clin Kidney J (Clinical Kidney Journal)
[2018, 11(Suppl 1):i14-i26]

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Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.

Charlotte Gimpel, E Fred Avni, Luc Breysem, Kathrin Burgmaier, Anna Caroli, Metin Cetiner, Dieter Haffner, Erum A Hartung, Doris Franke, Jens König, Max C Liebau, Djalila Mekahli, Albert C M Ong, Lars Pape, Andrea Titieni, Roser Torra, Paul J D Winyard, Franz Schaefer,

Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). In children, as opposed to adults, a ... Read more >>

Radiology (Radiology)
[2019, 290(3):769-782]

Cited: 1 time

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Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

Giorgia Bucciol, Leen Moens, Kathryn Payne, Elke Wollants, Djalila Mekahli, Elena Levtchenko, François Vermeulen, Thomas Tousseyn, Paul Gray, Cindy S Ma, Stuart G Tangye, Marc Van Ranst, Julianne R Brown, Judy Breuer, Isabelle Meyts,

The original version of this article unfortunately did not display the appropriate captions in the figure. The correct version is displayed below. ... Read more >>

J. Clin. Immunol. (Journal of clinical immunology)
[2018, 38(8):938-939]

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Copeptin in the Diagnosis of Diabetes Insipidus.

Djalila Mekahli, François Jouret,

N. Engl. J. Med. (The New England journal of medicine)
[2018, 379(18):1784-1785]

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Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.

Caroline Weydert, Jean-Paul Decuypere, Humbert De Smedt, Peter Janssens, Rudi Vennekens, Djalila Mekahli,

Several animal- and human-derived models are used in autosomal dominant polycystic kidney disease (ADPKD) research to gain insight in the disease mechanism. However, a consistent correlation between animal and human ADPKD models is lacking. Therefore, established human-derived models are relevant to affirm research results and translate findings into a clinical ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2019, 34(10):1697-1715]

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Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

Giorgia Bucciol, Leen Moens, Kathryn Payne, Elke Wollants, Djalila Mekahli, Elena Levtchenko, François Vermeulen, Thomas Tousseyn, Paul Gray, Cindy S Ma, Stuart G Tangye, Marc Van Ranst, Julianne R Brown, Judy Breuer, Isabelle Meyts,

J. Clin. Immunol. (Journal of clinical immunology)
[2018, 38(7):748-752]

Cited: 1 time

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Oxidative stress in autosomal dominant polycystic kidney disease: player and/or early predictor for disease progression?

Asmin Andries, Kristien Daenen, François Jouret, Bert Bammens, Djalila Mekahli, Ann Van Schepdael,

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in PKD1 or PKD2 genes, is the most common hereditary renal disease. Renal manifestations of ADPKD are gradual cyst development and kidney enlargement ultimately leading to end-stage renal disease. ADPKD also causes extrarenal manifestations, including endothelial dysfunction and hypertension. Both of ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2019, 34(6):993-1008]

Cited: 1 time

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Oxidative stress in chronic kidney disease.

Kristien Daenen, Asmin Andries, Djalila Mekahli, Ann Van Schepdael, François Jouret, Bert Bammens,

Oxidative stress (OS), defined as disturbances in the pro-/antioxidant balance, is harmful to cells due to the excessive generation of highly reactive oxygen (ROS) and nitrogen (RNS) species. When the balance is not disturbed, OS has a role in physiological adaptations and signal transduction. However, an excessive amount of ROS ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2019, 34(6):975-991]

Cited: 11 times

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Renal Replacement Therapy in children with severe developmental disability: guiding questions for decision-making.

Lore Willem, Noël Knops, Djalila Mekahli, Pierre Cochat, Alberto Edefonti, Enrico Verrina, Jaap Groothoff, Lieven Lagae, Jacques Pirenne, Fabienne Dobbels, Pascal Borry, Chris Van Geet, Elena Levtchenko,

Whether to initiate or to withhold Renal Replacement Therapy (RRT) in children with severe developmental disability (DD) remains a topic of intense debate. The present study investigated the opinion of professionals on this difficult issue and proposed a checklist with guiding questions for decision-making. Clinicians affiliated to different organizations involved ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2018, 177(12):1735-1743]

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Simultaneous determination of allantoin and adenosine in human urine using liquid chromatography - UV detection.

Asmin Andries, Stéphanie De Rechter, Peter Janssens, Djalila Mekahli, Ann Van Schepdael,

We report a HPLC-UV method for the quantitative determination of allantoin and adenosine in human urine, validated according to the acceptance criteria of both the USA Food and Drug Administration (FDA) guideline for bioanalytical method validation and the European Medicines Agency (EMA) validation guidelines. Both allantoins and adenosine are compounds ... Read more >>

J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. (Journal of chromatography. B, Analytical technologies in the biomedical and life sciences)
[2018, 1096:201-207]

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Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study.

Peter Janssens, Karen Van Hoeve, Liesbeth De Waele, Stéphanie De Rechter, Kathleen J Claes, Els Van de Perre, Karl Martin Wissing, Bert Bammens, Anna Jansen, Djalila Mekahli,

BACKGROUND:Renal pathology in tuberous sclerosis complex (TSC) is characterized by the growth of angiomyolipoma and renal cysts, and in rare cases renal cell carcinoma. Other consequences of renal involvement in TSC, including hypertension, proteinuria, and hyperfiltration, are not well studied. We aimed to analyze the early manifestations of the renal ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2018, 33(11):2085-2093]

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Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice.

Kathrin Burgmaier, Joy Brandt, Rukshana Shroff, Peter Witters, Lutz T Weber, Jörg Dötsch, Franz Schaefer, Djalila Mekahli, Max C Liebau,

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal disorder of childhood. Early renal disease in ARPKD may require renal replacement therapy and is associated with failure to thrive resulting in a need for nasogastric tube feeding or gastrostomy. In ARPKD patients, the benefit of a gastrostomy in ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2018, 6:164]

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Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.

Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts,

Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe hepatopulmonary syndrome as a consequence of chronic vitamin A intoxication. She underwent successful liver ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2018, 13(1):69]

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Prevalence of Hypertension in Children with Early-Stage ADPKD.

Laura Massella, Djalila Mekahli, Dušan Paripović, Larisa Prikhodina, Nathalie Godefroid, Anna Niemirska, Ayşe Ağbaş, Karolina Kalicka, Augustina Jankauskiene, Malgorzata Mizerska-Wasiak, Alberto Caldas Afonso, Rémi Salomon, Georges Deschênes, Gema Ariceta, Z Birsin Özçakar, Ana Teixeira, Ali Duzova, Jérôme Harambat, Tomáš Seeman, Gabriela Hrčková, Adrian Catalin Lungu, Svetlana Papizh, Amira Peco-Antic, Stéphanie De Rechter, Ugo Giordano, Marietta Kirchner, Teresa Lutz, Franz Schaefer, Olivier Devuyst, Elke Wühl, Francesco Emma,

BACKGROUND AND OBJECTIVES:Autosomal dominant polycystic kidney disease is the most common inheritable kidney disease, frequently thought to become symptomatic in adulthood. However, patients with autosomal dominant polycystic kidney disease may develop signs or symptoms during childhood, in particular hypertension. Although ambulatory BP monitoring is the preferred method to diagnose hypertension ... Read more >>

Clin J Am Soc Nephrol (Clinical journal of the American Society of Nephrology : CJASN)
[2018, 13(6):874-883]

Cited: 6 times

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Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.

Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, , , Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, ,

OBJECTIVE:To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. STUDY DESIGN:A dataset comprising 385 patients from the ARegPKD international registry study was analyzed ... Read more >>

J. Pediatr. (The Journal of pediatrics)
[2018, 199:22-28.e6]

Cited: 2 times

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

Annarita Di Mise, Grazia Tamma, Marianna Ranieri, Mariangela Centrone, Lambertus van den Heuvel, Djalila Mekahli, Elena N Levtchenko, Giovanna Valenti,

Clinical and fundamental research suggest that altered calcium and cAMP signaling might be the most proximal events in ADPKD pathogenesis. Cells from ADPKD cysts have a reduced resting cytosolic calcium [Ca2+]i and increased cAMP levels. CaSR plays an essential role in regulating calcium homeostasis. Its activation is associated with [Ca2+]i ... Read more >>

Sci Rep (Scientific reports)
[2018, 8(1):5704]

Cited: 4 times

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