Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.

Autor: Buffin-Meyer B; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Richard J; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France., Guigonis V; Department of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France., Weber S; Pediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany., König J; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Heidet L; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Moussaoui N; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Filière ORphan KIdney Disease (ORKiD), Montpellier, France., Vu JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Faguer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Casemayou A; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Prakash R; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Baudouin V; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Hogan J; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Alexandrou D; University College London Medical School, London, UK., Bockenhauer D; University College London, Department of Renal Medicine, London, UK.; Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Bacchetta J; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.; INSERM 1033, Faculté de Médecine Lyon Est, Lyon, France., Ranchin B; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France., Pruhova S; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Zieg J; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Lahoche A; Unité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Okorn C; Department of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany., Antal-Kónya V; MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.; Department of Pediatrics, Semmelweis University, Budapest, Hungary., Morin D; Néphrologie Pédiatrique, CHU de Montpellier, Montpellier, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Montpellier, France.; Université de Montpellier, Montpellier, France., Becherucci F; Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Liebau MC; Department of Pediatrics and Center for Family Health, Center for Rare Diseases and Center for Molecular Medicine, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany., Mauras M; Department of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France., Nijenhuis T; Department of Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands., Llanas B; Unité de Néphrologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Centre de Références des Maladies rénales rares du Sud-Ouest (SORARE), Bordeaux, France., Mekahli D; Department of Pediatric Nephrology, University Hospitals, Leuven, Belgium.; PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Thumfart J; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany., Tönshoff B; Department of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany., Massella L; Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Eckart P; Department of Pediatrics, University Hospital of Caen, Caen, France., Cloarec S; Service de Néphrologie Pédiatrique, Hôpital Clocheville, CHRU, Tours, France.; Centre De Compétence Maladies Rénales Rares, Filière ORphan KIdney Disease (ORKiD), France., Cruz A; Pediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain., Patzer L; Klinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, Germany., Roussey G; Service des Maladies Chroniques de l'Enfant, Hopital Mère Enfant, CHU Nantes, Nantes, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Nantes, France., Vrillon I; Service de Néphrologie Pédiatrique, Hôpital des Enfants, CHRU Nancy, Vandoeuvre les Nancy, France., Dunand O; Service de Néphrologie Pédiatrique, CHU Réunion site Félix GUYON, St Denis, Ile de La Réunion, France., Bessenay L; Department of Pediatric Nephrology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Taroni F; Pediatric Nephrology, Dialysis and Transplantation Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Louillet F; Département de Pédiatrie, Unité de Néphrologie-Hémodialyse, CHU Charles Nicolle, Rouen, France., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Schaefer F; Division of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany., van Eerde AM; Department of Genetics, UMC Utrecht, Utrecht, The Netherlands., Schanstra JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Decramer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.

Publikováno v: Kidney international reports [Kidney Int Rep] 2024 May 16; Vol. 9 (8), pp. 2514-2526. Date of Electronic Publication: 2024 May 16 (Print Publication: 2024).

Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.

Autor: Harafuji N; Center for Translational Research, Children's National Hospital, Washington, DC, United States., Yang C; Center for Translational Research, Children's National Hospital, Washington, DC, United States., Wu M; Center for Translational Research, Children's National Hospital, Washington, DC, United States., Thiruvengadam G; Center for Translational Research, Children's National Hospital, Washington, DC, United States., Gordish-Dressman H; Center for Translational Research, Children's National Hospital, Washington, DC, United States., Thompson RG; Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, United States., Bell PD; Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, United States., Rosenberg AZ; Department of Pathology, Johns Hopkins University, Baltimore, MD, United States., Dafinger C; Department of Pediatrics and Center for Molecular Medicine, Medical Faculty and University Hospital Cologne, University of Cologne, Cologne, Germany., Liebau MC; Department of Pediatrics, Center for Family Health, Center for Rare Diseases and Center for Molecular Medicine, Medical Faculty and University Hospital Cologne, University of Cologne, Cologne, Germany., Bebok Z; Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, United States., Caldovic L; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, United States.; Department of Genomics and Precision Medicine, School of Medical and Health Sciences, The George Washington University, Washington, DC, United States., Guay-Woodford LM; Center for Translational Research, Children's National Hospital, Washington, DC, United States.; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, United States.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2023 Nov 17; Vol. 11, pp. 1270980. Date of Electronic Publication: 2023 Nov 17 (Print Publication: 2023).

TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.

Autor: Etich J; Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/Main, Frankfurt, Germany.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Semler O; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Family Health, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Stevenson NL; Cell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University Walk, University of Bristol, Bristol, UK., Stephan A; Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/Main, Frankfurt, Germany.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Besio R; Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy., Garibaldi N; Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Department of Biomedical Engineering, The City College of New York, New York, NY, USA., Reintjes N; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Dafinger C; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Liebau MC; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Family Health, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Baumann U; Institute of Biochemistry, University of Cologne, Cologne, Germany., Mörgelin M; Colzyx AB, Lund, Sweden., Forlino A; Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy., Stephens DJ; Cell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University Walk, University of Bristol, Bristol, UK., Netzer C; Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany.; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Zaucke F; Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/Main, Frankfurt, Germany., Rehberg M; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Family Health, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2023 Jul 10; Vol. 15 (7), pp. e17528. Date of Electronic Publication: 2023 Jun 09.

Shift from severe hypotension to salt-dependent hypertension in a child with autosomal recessive polycystic kidney disease after bilateral nephrectomies: a case report.

Autor: Ruzgiene D; Clinic of Pediatrics, Faculty of Medicine, Institute of Clinical Medicine, Vilnius University, Santariskiu Str. 4, Vilnius, Lithuania. dovile.ruzgiene@santa.lt., Abraityte L; Clinic of Pediatrics, Faculty of Medicine, Institute of Clinical Medicine, Vilnius University, Santariskiu Str. 4, Vilnius, Lithuania., Azukaitis K; Clinic of Pediatrics, Faculty of Medicine, Institute of Clinical Medicine, Vilnius University, Santariskiu Str. 4, Vilnius, Lithuania., Liebau MC; Department of Pediatrics, Center for Rare Diseases and Center for Molecular Medicine, University Hospital Cologne and Medical Faculty, University of Cologne, Kerpener Str. 62, Cologne, Germany., Jankauskiene A; Clinic of Pediatrics, Faculty of Medicine, Institute of Clinical Medicine, Vilnius University, Santariskiu Str. 4, Vilnius, Lithuania.

Publikováno v: BMC nephrology [BMC Nephrol] 2023 Apr 04; Vol. 24 (1), pp. 86. Date of Electronic Publication: 2023 Apr 04.

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.

Autor: Mekahli D; PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium. djalila.mekahli@uzleuven.be.; Department of Pediatric Nephrology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. djalila.mekahli@uzleuven.be., Liebau MC; Department of Pediatrics, Center for Family Health, Center for Rare Diseases, and Center for Molecular Medicine, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany., Cadnapaphornchai MA; Rocky Mountain Pediatric Kidney Center, Rocky Mountain Hospital for Children at Presbyterian/St. Luke's Medical Center, Denver, CO, USA., Goldstein SL; Center for Acute Care Nephrology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Greenbaum LA; Department of Pediatrics, Division of Pediatric Nephrology, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA, USA., Litwin M; Department of Nephrology, Kidney Transplantation and Arterial Hypertension, Children's Memorial Health Institute, Warsaw, Poland., Seeman T; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic.; Department of Pediatrics, University Hospital Ostrava, Ostrava, Czech Republic., Schaefer F; Division of Pediatric Nephrology, University Children's Hospital Heidelberg, Heidelberg, Germany., Guay-Woodford LM; Center for Translational Research, Children's National Research Institute, Washington, DC, USA.

Publikováno v: BMC nephrology [BMC Nephrol] 2023 Feb 13; Vol. 24 (1), pp. 33. Date of Electronic Publication: 2023 Feb 13.