Results 11 to 20 of about 6,344 (210)

Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation. [PDF]

Nephrology (Carlton)
ABSTRACT Hereditary tubulointerstitial kidney diseases typically manifest as slowly progressive chronic kidney disease. Rapidly progressive kidney failure with non‐cystic nephromegaly is an exceptionally rare presentation posing significant diagnostic challenges.
Ito H, Mashiko S, Mizuno S, Kanomata Y, Yano K, Suzuki Y, Sato F, Tajima R, Anan G, Hirose T, Ishiyama K, Mori T.   +11 more
europepmc   +2 more sources

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

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

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

Senior Loken Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2016
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease.
Amarpreet Kaur, Shashi Kant Dhir, Geetika Goyal, Naveen Mittal, R.K. Goyal   +4 more
doaj   +1 more source

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

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy
et al,, Montague, Michael J
core   +7 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

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. [PDF]

PLoS Genetics, 2014
We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis.
Gisela G Slaats, Amiya K Ghosh, Lucas L Falke, Stéphanie Le Corre, Indra A Shaltiel, Glenn van de Hoek, Timothy D Klasson, Marijn F Stokman, Ive Logister, Marianne C Verhaar, Roel Goldschmeding, Tri Q Nguyen, Iain A Drummond, Friedhelm Hildebrandt, Rachel H Giles   +14 more
doaj   +1 more source