Results 141 to 150 of about 1,497 (161)

A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis

Clinical Nephrology, 2013
Dent disease is an X-linked proximal tubulopathy that typically presents with hypercalciuria, low-molecular-weight proteinuria and slow progression to endstage renal disease. We report the case of a 5-year-old boy who presented with asymptomatic nephrotic range proteinuria and was later diagnosed with Dent disease.
Mary Rose, Valina, Christopher P, Larsen, Sherry, Kanosky, Sharon F, Suchy, Linda S, Nield, Ali Mirza, Onder   +5 more
openaire   +2 more sources

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

European Journal of Pediatrics, 2011
Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrome.
Takayuki Okamoto, Okamoto Takayuki, Tajima Toshihiro   +2 more
exaly   +3 more sources

Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene.

Journal of pediatric genetics, 2013
Dent's disease is an X-linked proximal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This disorder is frequently caused by mutations in the CLCN5 gene encoding the electrogenic chloride/proton exchanger ClC-5.
Ramos-Trujillo, Elena, Claverie-Martin, Felix, Garcia-Nieto, Victor, Ariceta, Gema, Vara, Julia, Gonzalez-Acosta, Hilaria, Garcia-Ramirez, Marta, Fons, Jaime, Cordoba-Lanus, Elizabeth, Gonzalez-Paredes, Javier, Valenciano, Blanca, Ramos, Leticia, Muley, Rafael, Caggiani, Marina, Alvarez-Estrada, Pilar, Madrid, Alvaro, for the RenalTube Group   +16 more
openaire   +2 more sources

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations

DNA and Cell Biology, 2017
Dent's disease is an X-linked inherited renal disease. Patients with Dent's disease often carry mutations in genes encoding the Cl-/H+ exchanger ClC-5 and/or inositol polyphosphate 5-phosphatase (OCRL1). However, the mutations involved and the biochemical effects of these mutations are not fully understood.
Ya, Zhang, Xiaoyan, Fang, Hong, Xu, Qian, Shen   +3 more
openaire   +2 more sources

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Pediatric Nephrology, 2009
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL1 gene, which is usually mutated in patients with Lowe syndrome, have recently been shown to lead to a Dent-like phenotype, called Dent's disease 2. About 25% of Dent's disease patients do not carry CLCN5/OCRL1 mutations.
TOSETTO E, ADDIS, MARIA, CARIDI G, MELONI, CRISTIANA, EMMA F, VERGINE G, STRINGINI G, PAPALIA T, BARBANO G, GHIGGERI GM, RUGGERI L, MIGLIETTI N, D. ANGELO A, MELIS MA, ANGLANI F.   +14 more
openaire   +3 more sources

Dent’s disease: identification of a novel mutation in the renal chloride channel CLCN5

Clinical Nephrology, 2004
Dent's disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis or nephrocalcinosis, rickets and eventual-progressive renal failure. Onset of clinical symptoms show a great variability, making a diagnosis at an early stage of the
S, Brakemeier, H, Si, M, Gollasch, D, Höffler, M, Buhl, R, Köhler, J, Hoyer, I, Eichler   +7 more
openaire   +2 more sources

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets

Clinical Endocrinology, 2017
SummaryContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.ObjectiveTo investigate underlying genetic defects in patients with hypophosphataemic rickets.MethodsWe analysed genomic DNA from nine unrelated families for mutations in the ...
Ayla Guven, Roua A. Al‐Rijjal, Huda A. BinEssa, Durmuş Dogan, Yılmaz Kor, Minjing Zou, Namik Kaya, Anwar F. Alenezi, Suna Hancili, Ömer Tarım, Essa Y. Baitei, Walaa E Kattan, Brian F. Meyer, Yufei Shi   +13 more
openaire   +4 more sources

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

Pediatric Nephrology, 2010
Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with a variable number of features of Fanconi syndrome. It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride ...
Radovan, Bogdanović, Markus, Draaken, Alma, Toromanović, Maja, Dordević, Natasa, Stajić, Michael, Ludwig   +5 more
openaire   +2 more sources

A Novel Frameshift Mutation in CLCN5 in a Family with Podocytopathy Phenotype

Journal of the American Society of Nephrology, 2023
Adolya M. Moore, Brandon M. Lane, Megan Chryst-Stangl, Guanghong Wu, Rasheed A. Gbadegesin   +4 more
openaire   +1 more source

[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].

Nederlands tijdschrift voor geneeskunde, 2007
Contains fulltext : 53068.pdf (Publisher’s version ) (Closed access)
Levtchenko, E.N., Monnens, L.A.H., Bokenkamp, A., Knoers, N.V.A.M.   +3 more
openaire   +2 more sources