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"Dent's disease"

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https://www.readbyqxmd.com/read/27904828/dent-s-disease-complicated-by-nephrotic-syndrome-a-case-report
#1
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
#2
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...
November 28, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#3
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
#4
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)...
October 20, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27757584/proteinuria-in-dent-disease-a-review-of-the-literature
#5
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
#6
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...
October 3, 2016: 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
#7
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...
October 3, 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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27044412/a-pure-chloride-channel-mutant-of-clc-5-causes-dent-s-disease-via-insufficient-v-atpase-activation
#13
Nobuhiko Satoh, Hideomi Yamada, Osamu Yamazaki, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Akira Ashida, Daisuke Yamamoto, Yoshitsugu Kaku, Takashi Sekine, George Seki, Shoko Horita
Dent's disease is characterized by defective endocytosis in renal proximal tubules (PTs) and caused by mutations in the 2Cl(-)/H(+) exchanger, CLC-5. However, the pathological role of endosomal acidification in endocytosis has recently come into question. To clarify the mechanism of pathogenesis for Dent's disease, we examined the effects of a novel gating glutamate mutation, E211Q, on CLC-5 functions and endosomal acidification. In Xenopus oocytes, wild-type (WT) CLC-5 showed outward-rectifying currents that were inhibited by extracellular acidosis, but E211Q and an artificial pure Cl(-) channel mutant, E211A, showed linear currents that were insensitive to extracellular acidosis...
July 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27011217/the-oculocerebrorenal-syndrome-of-lowe-an-update
#14
REVIEW
Arend Bökenkamp, Michael Ludwig
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems, with tantrums...
December 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/26928805/on-the-origin-of-urinary-renin-a-translational-approach
#15
COMPARATIVE STUDY
Lodi C W Roksnoer, Bart F J Heijnen, Daisuke Nakano, Janos Peti-Peterdi, Stephen B Walsh, Ingrid M Garrelds, Jeanette M G van Gool, Robert Zietse, Harry A J Struijker-Boudier, Ewout J Hoorn, A H Jan Danser
Urinary angiotensinogen excretion parallels albumin excretion, which is not the case for renin, while renin's precursor, prorenin, is undetectable in urine. We hypothesized that renin and prorenin, given their smaller size, are filtered through the glomerulus in larger amounts than albumin and angiotensinogen, and that differences in excretion rate are because of a difference in reabsorption in the proximal tubule. To address this, we determined the glomerular sieving coefficient of renin and prorenin and measured urinary renin/prorenin 1) after inducing prorenin in Cyp1a1-Ren2 rats and 2) in patients with Dent disease or Lowe syndrome, disorders characterized by defective proximal tubular reabsorption...
May 2016: Hypertension
https://www.readbyqxmd.com/read/26540764/nephrolithiasis-and-nephrocalcinosis-in-children-metabolic-and-genetic-factors
#16
REVIEW
Velibor Tasic, Zoran Gucev
Diagnosis and management of pediatric nephrolithiasis/nephrocalcinosis is a very complex and challenging task for every pediatrician. It is based on correct. disease history taking, which may guide to the mode of inheritance (dominant, recessive, x-linked). Ethnicity and consanguinity should also be investigated since they predispose to high prevalence of certain disorders. One should always begin with cheap and available screening tests. Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hypocitraturia, cystinuria, primary hyperoxaluria and renal hypouricemia...
September 2015: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/26389017/nephrolithiasis-kidney-failure-and-bone-disorders-in-dent-disease-patients-with-and-without-clcn5-mutations
#17
Franca Anglani, Angela D'Angelo, Luisa Maria Bertizzolo, Enrica Tosetto, Monica Ceol, Daniela Cremasco, Luciana Bonfante, Maria Antonietta Addis, Dorella Del Prete
Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC-5 which is involved in the tubular reabsorption of albumin and LMW proteins, OCRL encodes the inositol polyphosphate 5-phosphatase, and was initially associated with Lowe syndrome. In approximately 25 % of patients, no CLCN5 and OCRL mutations were detected...
2015: SpringerPlus
https://www.readbyqxmd.com/read/26370164/urine-proteome-analysis-in-dent-s-disease-shows-high-selective-changes-potentially-involved-in-chronic-renal-damage
#18
Laura Santucci, Giovanni Candiano, Franca Anglani, Maurizio Bruschi, Enrica Tosetto, Daniela Cremasco, Luisa Murer, Chiara D'Ambrosio, Andrea Scaloni, Andrea Petretto, Gianluca Caridi, Roberta Rossi, Alice Bonanni, Gian Marco Ghiggeri
UNLABELLED: Definition of the urinary protein composition would represent a potential tool for diagnosis in many clinical conditions. The use of new proteomic technologies allows detection of genetic and post-trasductional variants that increase sensitivity of the approach but complicates comparison within a heterogeneous patient population. Overall, this limits research of urinary biomarkers. Studying monogenic diseases are useful models to address this issue since genetic variability is reduced among first- and second-degree relatives of the same family...
January 1, 2016: Journal of Proteomics
https://www.readbyqxmd.com/read/26308078/dent-disease-in-children-diagnostic-and-therapeutic-considerations
#19
Maria Szczepanska, Marcin Zaniew, Florian Recker, Malgorzata Mizerska-Wasiak, Iga Zaluska-Lesniewska, Katarzyna Kilis-Pstrusinska, Piotr Adamczyk, Jan Zawadzki, Krzysztof Pawlaczyk, Michael Ludwig, Przemyslaw Sikora
BACKGROUND: Dent disease (DD) is a rare X-linked tubulopathy characterized by a proximal tubular dysfunction leading to nephrocalcinosis/nephrolithiasis and progressive renal failure. The disease is associated with a mutation either in CLCN5 or OCRL genes. We aim to define clinical and genetic disease characteristics and summarize treatments of Polish patients with DD. METHODS: The study cohort consists of 10 boys (aged 5 - 16.5 years) whose data were collected through POLtube Registry...
October 2015: Clinical Nephrology
https://www.readbyqxmd.com/read/26108450/nephrotic-range-albuminuria-as-the-presenting-symptom-of-dent-2-disease
#20
Chiara De Mutiis, Andrea Pasini, Claudio La Scola, Fabrizio Pugliese, Giovanni Montini
UNLABELLED: Dent disease is a rare X-linked tubulopathy with low molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. We describe the case of a 9-year-old boy who presented with nephrotic-range albuminuria at the age of 3 years. In the absence of a clear diagnosis, a renal biopsy was performed at 4 years, which revealed minimal change disease. Due to the presence of low molecular weight proteinuria, even in the absence of hypercalciuria, a diagnosis of Dent disease was considered...
2015: Italian Journal of Pediatrics
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