Results 21 to 30 of about 4,587 (195)

Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient. [PDF]

Pediatr Transplant
ABSTRACT Background Urothelial bladder carcinoma is extremely rare in children and its association with BK virus infection remains unclear. Methods We describe the case of an 11‐year‐old girl who developed a urothelial carcinoma of the bladder four years after receiving her first kidney transplant.
Ichas M, Allard L, Harper L, Yacoub M, Madden I, Vérité C, Godron-Dubrasquet A, Harambat J.   +7 more
europepmc   +2 more sources

SOX9-dependent fibrosis drives renal function in nephronophthisis

EMBO Molecular Medicine
Fibrosis is a key feature of a broad spectrum of cystic kidney diseases, especially autosomal recessive kidney disorders such as nephronophthisis (NPHP).
Maulin Mukeshchandra Patel, Vasileios Gerakopoulos, Bryan Lettenmaier, Eleni Petsouki, Kurt A Zimmerman, John A Sayer, Leonidas Tsiokas   +6 more
doaj   +2 more sources

Case report of a child with nephronophthisis from South Africa

BMC Pediatrics
Background Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and ...
Rajendra Bhimma, Edgar Jembere, Sudesh Hariparshad   +2 more
doaj   +2 more sources

Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion

Stem Cell Research, 2020
Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated
Yutaka Arai, Miho Takami, Yuri An, Mami Matsuo-Takasaki, Yasuko Hemmi, Tamami Wakabayashi, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Keisuke Sugimoto, Tsukasa Takemura, Keisuke Okita, Kenji Osafune, Minoru Takasato, Tadayoshi Hayata, Yohei Hayashi   +15 more
doaj   +1 more source

Nephronophthisis and central veins abnormalities: A case report

Clinical Case Reports, 2021
Patients with genetic disorders are potentially more susceptible to present vascular abnormalities compared to the general population. For these patients, unusual difficulties could appear during a CVC placement procedure that could lead to major ...
Mohamed Amine Rahil, Messaoud Hadjmhamed
doaj   +1 more source

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability [PDF]

, 2014
Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ...
Gee, Heon Yung, Schueler, Markus, Belkacem, Lilya, Hildebrandt, Friedhelm, Frigo, Amandine, Failler, Marion, Kim, Joon, Halbritter, Jan, Gubler, Marie-Claire, Porath, Jonathan D., Benmerah, Alexandre, de Ligny, Bruno Hurault, Krug, Pauline, Otto, Edgar A., Saunier, Sophie, Joo, Kwangsic, Hurault de Ligny, Bruno, Filhol, Emilie, Brochard, Karine, Braun, Daniela A., Salomon, Rémi, Novo, Robert, Alibeu, Olivier, Masson, Cécile, Antignac, Corinne, Kayserili, Hulya, Pietrement, Christine   +26 more
core   +2 more sources

Case Report: Effects of Secondary Hyperparathyroidism Treatment on Improvement of Juvenile Nephronophthisis-Induced Pancytopenia and Myelofibrosis

Frontiers in Pediatrics, 2021
Secondary hyperparathyroidism (HPT) is a common complication of end-stage renal disease (ESRD) and may be an important precipitating factor for the development of myelofibrosis.
Keishiro Amano, Hidemi Toyoda, Kouhei Nishikawa, Tomohiro Murata, Masahiro Hirayama   +4 more
doaj   +1 more source

Juvenile nephropathy resembling human nephronophthisis-medullary cystic kidney disease in a 9-month-old domestic shorthaired cat. [PDF]

J Small Anim Pract
Journal of Small Animal Practice, Volume 66, Issue 9, Page 677-677, September 2025.
Goody N, Poldy J, Malbon A, Morrison T, Montanes-Sancho I, Dancer S, Gunn Moore D.   +6 more
europepmc   +2 more sources

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis

Frontiers in Cell and Developmental Biology, 2021
Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-stage renal disease in children. The main forms, juvenile and adult NPH, are characterized by tubulointerstitial fibrosis whereas the infantile form is more severe and ...
Marijn F. Stokman, Marijn F. Stokman, Sophie Saunier, Alexandre Benmerah   +3 more
doaj   +1 more source

Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

Frontiers in Pediatrics, 2018
Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood.
Jens Christian König, Andrea Titieni, Martin Konrad, The NEOCYST Consortium, C. Bergmann, M. Cetiner, J. Drube, C. Gimpel, J. Göbel, D. Haffner, T. Illig, N. Klopp, J. König, M. Konrad, M. Lablans, M. C. Liebau, S. Lienkamp, C. Okorn, H. Omran, L. Pape, P. Pennekamp, F. Schaefer, B. Schermer, H. Storf, A. Titieni, F. Ückert, S. Weber, W. Ziegler   +27 more
doaj   +1 more source