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"Dent's disease"

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https://www.readbyqxmd.com/read/28580211/dent-disease-same-clcn5-mutation-but-different-phenotypes-in-two-brothers-in-china
#1
Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28386229/clc-channels-and-transporters-structure-physiological-functions-and-implications-in-human-chloride-channelopathies
#2
REVIEW
Diogo R Poroca, Ryan M Pelis, Valérie M Chappe
The discovery of ClC proteins at the beginning of the 1990s was important for the development of the Cl(-) transport research field. ClCs form a large family of proteins that mediate voltage-dependent transport of Cl(-) ions across cell membranes. They are expressed in both plasma and intracellular membranes of cells from almost all living organisms. ClC proteins form transmembrane dimers, in which each monomer displays independent ion conductance. Eukaryotic members also possess a large cytoplasmic domain containing two CBS domains, which are involved in transport modulation...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28357180/diagnosis-and-treatment-of-dent-disease-in-10-chinese-boys
#3
Guohua He, Hongwen Zhang, Fang Wang, Xiaoyu Liu, Huijie Xiao, Yong Yao
Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. All 10 childhood cases of Dent disease in China presented with tubular proteinuria in the nephrotic range and hypercalciuria...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28314577/nanotubes-the-fast-track-to-treatment-of-dent-disease
#4
Thomas E Willnow
Studies in mice have suggested bone marrow transplantation as a strategy to correct the endocytic dysfunction of the proximal tubules in renal Fanconi syndrome, yet the mode of action has remained mysterious. Using a mouse model of Dent disease, Gabriel et al. now show that rescue of the resorptive capacity in the diseased kidney involves cell-to-cell contact between engrafted and host cells via nanotubes, cellular projections that enable transfer of wild-type activity into mutant cells of the proximal tubule...
April 2017: Kidney International
https://www.readbyqxmd.com/read/28203565/tubular-dysfunction-mimicking-dent-s-disease-in-2-infants-born-with-extremely-low-birth-weight
#5
Midori Awazu, Mie Arai, Shoko Ohashi, Hirotaka Takahashi, Takashi Sekine, Kazushige Ikeda
Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28143656/bone-marrow-transplantation-improves-proximal-tubule-dysfunction-in-a-mouse-model-of-dent-disease
#6
Sarah S Gabriel, Hendrica Belge, Alkaly Gassama, Huguette Debaix, Alessandro Luciani, Thomas Fehr, Olivier Devuyst
Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction. Bone marrow transplantation has recently been shown to preserve kidney function in cystinosis, a lysosomal storage disease causing proximal tubule dysfunction. Here we test the effects of bone marrow transplantation in Clcn5(Y/-) mice, a faithful model for Dent disease. Transplantation of wild-type bone marrow in Clcn5(Y/-) mice significantly improved proximal tubule dysfunction, with decreased low-molecular-weight proteinuria, glycosuria, calciuria, and polyuria four months after transplantation, compared to Clcn5(Y/-) mice transplanted with ClC-5 knockout bone marrow...
January 28, 2017: Kidney International
https://www.readbyqxmd.com/read/28101447/functional-coupling-of-v-atpase-and-clc-5
#7
REVIEW
Nobuhiko Satoh, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Shoko Horita, George Seki, Kyoji Moriya
Dent's disease is an X-linked renal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria and progressive renal failure. Disease aetiology is associated with mutations in the CLCN5 gene coding for the electrogenic 2Cl(-)/H(+) antiporter chloride channel 5 (CLC-5), which is expressed in the apical endosomes of renal proximal tubules with the vacuolar type H(+)-ATPase (V-ATPase). Initially identified as a member of the CLC family of Cl(-) channels, CLC-5 was presumed to provide Cl(-) shunt into the endosomal lumen to dissipate H(+) accumulation by V-ATPase, thereby facilitating efficient endosomal acidification...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#8
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27904828/dent-s-disease-complicated-by-nephrotic-syndrome-a-case-report
#9
Guohua He, Hongwen Zhang, Shanshan Cao, Huijie Xiao, Yong Yao
Dent's disease is an X-linked recessive proximal tubular disorder that mostly affects male patients in childhood or early adult life. The condition is caused by mutations in the CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes located on chromosome Xp11.22 and Xq25, respectively. In most male patients, proteinuria is subnephrotic but may reach nephrotic levels. Here, we report the first case of Dent's disease complicated by nephrotic syndrome. Dent's disease should be considered in the differential diagnosis of nephrotic syndrome, and especially in male patients with early onset of nephrotic syndrome...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27895154/kidney-tubular-ablation-of-ocrl-inpp5b-phenocopies-lowe-syndrome-tubulopathy
#10
Kazunori Inoue, Daniel M Balkin, Lijuan Liu, Ramiro Nandez, Yumei Wu, Xuefei Tian, Tong Wang, Robert Nussbaum, Pietro De Camilli, Shuta Ishibe
Lowe syndrome and Dent disease are two conditions that result from mutations of the inositol 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney proximal tubule function. Genetic ablation of Ocrl in mice failed to recapitulate the human phenotypes, possibly because of the redundant functions of OCRL and its paralog type 2 inositol polyphosphate-5-phosphatase (INPP5B). Germline knockout of both paralogs in mice results in early embryonic lethality. We report that kidney tubule-specific inactivation of Inpp5b on a global Ocrl-knockout mouse background resulted in low molecular weight proteinuria, phosphaturia, and acidemia...
May 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#11
Swati Bhardwaj, Ranjeet Thergaonkar, Aditi Sinha, Pankaj Hari, Cheong Hi, Arvind Bagga
OBJECTIVE: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. DESIGN: Case series. SETTING: Pediatric Nephrology Clinic at a referral center in Northern India. METHODS: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27766457/decreased-urinary-excretion-of-the-ectodomain-form-of-megalin-a-megalin-in-children-with-ocrl-gene-mutations
#12
Chikushi Suruda, Shoji Tsuji, Sohsaku Yamanouchi, Takahisa Kimata, Nguyen Thanh Huan, Hiroyuki Kurosawa, Yoshiaki Hirayama, Hiroyasu Tsukaguchi, Akihiko Saito, Kazunari Kaneko
BACKGROUND: The oculocerebrorenal syndrome of Lowe gene (OCRL) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase (OCRL-1). Mutations in this gene cause Lowe syndrome (LS) or type 2 Dent disease, of which low-molecular-weight (LMW) proteinuria is a characteristic feature. Megalin is considered to play an important role in the development of renal tubular proteinuria. Two forms of megalin are excreted into the urine: full-length megalin (C-megalin) and megalin ectodomain (A-megalin)...
April 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27757584/proteinuria-in-dent-disease-a-review-of-the-literature
#13
REVIEW
Youri van Berkel, Michael Ludwig, Joanna A E van Wijk, Arend Bökenkamp
BACKGROUND: Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP) and glomerulosclerosis in Dent disease. Therefore, we aimed to analyze protein excretion in patients with documented CLCN5 or OCRL mutations in a systematic literature review. DESIGN: PubMed and Embase were searched for cases with documented CLCN5 or OCRL mutations and (semi-)quantitative data on protein excretion...
October 18, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27699523/phenotypic-variability-of-dent-disease-in-a-large-new-zealand-kindred
#14
William Wong, Gemma Poke, Maria Stack, Tonya Kara, Chanel Prestidge, Kim Flintoff
BACKGROUND: Dent disease 1 is a rare cause of chronic kidney disease (CKD) in childhood secondary to mutations in the gene encoding the chloride-proton exchanger, CLC-5, which is found mainly in the proximal tubule. Clinical manifestations are variable and there are no known genotype-phenotype correlations. CASE DIAGNOSIS/TREATMENT: The proband was identified as having a mutation in CLCN5. The extended family of the proband was invited to participate in a study of Dent disease after several males were noted to have a history of CKD...
February 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27697782/glomerular-pathology-in-dent-disease-and-its-association-with-kidney-function
#15
Xiangling Wang, Franca Anglani, Lada Beara-Lasic, Anila J Mehta, Lisa E Vaughan, Loren Herrera Hernandez, Andrea Cogal, Steven J Scheinman, Gema Ariceta, Robert Isom, Lawrence Copelovitch, Felicity T Enders, Dorella Del Prete, Giuseppe Vezzoli, Fabio Paglialonga, Peter C Harris, John C Lieske
BACKGROUND AND OBJECTIVES: Dent disease is a rare X-linked disorder characterized by low molecular weight proteinuria and often considered a renal tubular disease. However, glomerulosclerosis was recently reported in several patients. Thus, Dent disease renal histopathologic features were characterized and assessed, and their association with kidney function was assessed. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Clinical renal pathology reports and slides (where available) were collected from 30 boys and men in eight countries who had undergone clinical renal biopsy between 1995 and 2014...
December 7, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27647256/are-filtered-plasma-proteins-processed-in-the-same-way-by-the-kidney
#16
W D Comper, L M Russo, J Vuchkova
In order to understand the mechanism of albuminuria we have explored how other plasma proteins are processed by the kidney as compared to inert molecules like Ficolls. When fractional clearances are plotted versus protein radius there is a remarkable parallelism between protein (molecular weight range 30-150kDa) clearance in healthy controls, in Dent's disease, in nephrotic states and the clearance of Ficolls. Although there are significant differences in the levels of fractional clearances in these states...
December 7, 2016: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/27342959/observations-of-a-large-dent-disease-cohort
#17
Anne Blanchard, Emmanuel Curis, Tiphaine Guyon-Roger, Diana Kahila, Cyrielle Treard, Véronique Baudouin, Etienne Bérard, Gérard Champion, Pierre Cochat, Julie Dubourg, Renaud de la Faille, Olivier Devuyst, Georges Deschenes, Michel Fischbach, Jérôme Harambat, Pascal Houillier, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Chantal Loirat, Elodie Merieau, Patrick Niaudet, François Nobili, Robert Novo, Rémi Salomon, Tim Ulinski, Xavier Jeunemaître, Rosa Vargas-Poussou
Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this we retrospectively analyzed data from 109 male patients with CLCN5 mutations (Dent-1) and 9 patients with mutation of the OCRL gene (Dent-2)...
August 2016: Kidney International
https://www.readbyqxmd.com/read/27324082/does-dent-disease-remain-an-underrecognized-cause-for-young-boys-with-focal-glomerulosclerosis
#18
Kaori Kubo, Tomomi Aizawa, Shojiro Watanabe, Koji Tsugawa, Kazushi Tsuruga, Etsuro Ito, Kensuke Joh, Hiroshi Tanaka
Focal glomerulosclerosis (FGS) is a histologic entity that causes significant proteinuria in children. Although its etiology varies, recent reports indicated that some young male patients with FGS had underlying Dent disease. We describe the case of a 14-year-old Japanese boy who presented with persistent non-nephrotic range proteinuria, hematuria, and renal insufficiency. The patient was initially diagnosed as having FGS associated with scattered tubulointerstitial fibrosis. Although he had neither nephrocalcinosis nor family history of renal disease including urolithiasis, increased excretion of urinary β2 microglobulin was noted...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27174143/dent-disease-in-chinese-children-and-findings-from-heterozygous-mothers-phenotypic-heterogeneity-fetal-growth-and-10-novel-mutations
#19
Fucheng Li, Zhihui Yue, Tingting Xu, Minghui Chen, Liangying Zhong, Ting Liu, Xiangyi Jing, Jia Deng, Bin Hu, Yuling Liu, Haiyan Wang, Kar N Lai, Liangzhong Sun, Jinsong Liu, Patrick H Maxwell, Yiming Wang
OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. STUDY DESIGN: Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. We also analyzed 16 available patients' mothers and examined their pregnancy records...
July 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27117801/functional-and-transport-analyses-of-clcn5-genetic-changes-identified-in-dent-disease-patients
#20
Xiaojing Tang, Matthew R Brown, Andrea G Cogal, Daniel Gauvin, Peter C Harris, John C Lieske, Michael F Romero, Min-Hwang Chang
Dent disease type 1, an X-linked inherited kidney disease is caused by mutations in electrogenic Cl(-)/H(+) exchanger, ClC-5. We functionally studied the most frequent mutation (S244L) and two mutations recently identified in RKSC patients, Q629X and R345W. We also studied T657S, which has a high minor-allele frequency (0.23%) in the African-American population, was published previously as pathogenic to cause Dent disease. The transport properties of CLC-5 were electrophysiologically characterized. WT and ClC-5 mutant currents were inhibited by pH 5...
April 2016: Physiological Reports
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