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Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: Inherited retinal diseases, particularly ciliopathies, often lead to irreversible blindness and are frequently accompanied by systemic manifestations such as nephronophthisis.
Jakob M. Pericak, Eric K. Chin, David R.P. Almeida   +2 more
doaj   +3 more sources

Nephronophthisis [PDF]

Childhood Kidney Diseases, 2015
NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset.
Hee Gyung Kang, Hae Il Cheong
doaj   +3 more sources

Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 [PDF]

Frontiers in Pediatrics
Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents.
Ting Dong, Jiajia Luo, Tianhong Sun, Huimin Wu, Qing Zhao, Lina Ma, Jing Yang   +6 more
doaj   +2 more sources

Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria [PDF]

Renal Failure
While nephronophthisis (NPHP) classically manifests as mild tubular proteinuria, emerging evidence reports nephrotic-range proteinuria with edema. This study aims to explore the phenotypes and genotypes of pediatric NPHP patients with different levels of
Qiuxia Chen, Jing Ouyang, Fei Zhao, Hongmei Wu, Quancheng Feng, Bixia Zheng, Chunhua Zhu   +6 more
doaj   +2 more sources

Spatiotemporal dynamics of renal distal convoluted tubule dilatation and cyst formation in nephronophthisis type 1 mice [PDF]

Renal Failure
Nephronophthisis (NPH), a rare but serious ciliopathy, is the predominant genetic cause of end-stage kidney disease (ESKD) in children and adolescents. Renal tubular dilatation and cyst formation are key pathological features of NPH.
Weina Zhang, Guanghua Xu, Xinyu Su, Jiayong Lai, Zhihe Xue, Tian Li, Hongbo Huang, Ruxin Li, Liangzhong Sun, Yanbing Li   +9 more
doaj   +2 more sources

Nephronophthisis [PDF]

Pediatric Nephrology, 2008
Abstract Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick   +2 more
  +9 more sources

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4

Frontiers in Molecular Biosciences, 2023
Renal epithelial cells are subjected to fluid shear stress of urine flow. Several cellular structures act as mechanosensors–the primary cilium, microvilli and cell adhesion complexes–that directly relay signals to the cytoskeleton to regulate various ...
Meriem Garfa Traoré, Meriem Garfa Traoré, Federica Roccio, Caterina Miceli, Giulia Ferri, Mélanie Parisot, Nicolas Cagnard, Marie Lhomme, Nicolas Dupont, Alexandre Benmerah, Sophie Saunier, Marion Delous   +11 more
doaj   +1 more source

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

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

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