Results 1 to 10 of about 5,140 (191)

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis [PDF]

Molecular Genetics & Genomic Medicine
Background Sitosterolemia (STSL) is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, characterized by hemolytic anemia, xanthomas, and atherosclerosis.
Dan Ding, Hongmei Wu, Fei Zhao, Bixia Zheng, Qiuxia Chen   +4 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

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report [PDF]

Frontiers in Pediatrics
Nephronophthisis (NPHP), an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis, is the most prevalent monogenic cause of end-stage renal disease (ESRD).
Wang Li, Gao-Hui Cao, Nan-Nan Li, Jie-Yi Long, You-Qing Tang, Ji-Shi Liu, Liang-Liang Fan   +6 more
doaj   +2 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

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   +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

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

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

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