Results 21 to 30 of about 5,140 (191)

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

Nephronophthisis [PDF]

Pediatric Nephrology, 2010
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L).
Matthias T F, Wolf, Friedhelm, Hildebrandt   +1 more
openaire   +2 more sources

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 ...
Schueler, Markus, Belkacem, Lilya, Hildebrandt, Friedhelm, Frigo, Amandine, Failler, Marion, Kim, Joon, Halbritter, Jan, Gubler, Marie-Claire, Benmerah, Alexandre, de Ligny, Bruno Hurault, Krug, Pauline, Saunier, Sophie, Joo, Kwangsic, Filhol, Emilie, Brochard, Karine, Novo, Robert, Alibeu, Olivier, Antignac, Corinne, Kayserili, Hulya, Pietrement, Christine, 지헌영, Gee, Heon Yung, Salomon, Remi, Porath, Jonathan D., Hurault de Ligny, Bruno, Otto, Edgar A., Braun, Daniela A., Masson, Cecile   +27 more
core   +2 more sources

Nephronophthisis [PDF]

Journal of the American Society of Nephrology, 2009
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as
Friedhelm, Hildebrandt, Massimo, Attanasio, Edgar, Otto   +2 more
  +5 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

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies. [PDF]

J Cell Commun Signal
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Zhang Q, Xue S, Gao Z, Shi P, Wang L, Feng Q, Kong X, Zhu X.   +7 more
europepmc   +2 more sources

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 [PDF]

, 2012
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults.
Morahan, G., Mathew I Bellgard, Roberto A Barrero, Morahan, G, McCooke, J.K., Bellgard, MI, Jacqueline K Phillips, Ding, A., John K McCooke, Appels, R, Grant Morahan, Phillips, J.K., Justyna E Ozimek-Kulik, Phillips, JK, Bellgard, M.I., Barrero, RA, McCooke, JK, Appels, R., Barrero, R.A., Ozimek-Kulik, J.E., Rudi Appels, Alice Ding, Ozimek-Kulik, JE, Ding, A   +23 more
core   +1 more source

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

A case of Non-compaction of Left Ventricle Coexistent with Juvenile Nephronophthisis. Is this Another Presentation of Ciliopathy? [PDF]

, 2014
Nephronophthisis is a chronic tubulo-interstitial nephritis which can progress to end-stage renal disease. Juvenile nephronophthisis is the most common type of nephronophthisis, which accounts for 5-10% of the cases of pediatric end stage renal diseases.
Afkhami, Mojdeh, Tanasan, Asadolah, Momtaz, Hossein Emad   +2 more
core   +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