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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/27843263/goldenhar-syndrome-a-case-report-with-review
#4
Mridula Goswami, Urvashi Bhushan, Babita Jangra
: Goldenhar syndrome is a rare condition which is characterized by a multitude of anomalies involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Herein, we report a case of Goldenhar syndrome with hemifacial microsomia and microtia along with systemic involvement which was clinically and radio-graphically assessed. Many classical signs of the syndrome were present in the patient along with few rare ones...
July 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27843260/gorlin-goltz-syndrome-a-rare-case-report-of-a-11-year-old-child
#5
Sandeep Tandon, Yashwant Chauhan, Meenakshi Sharma, Manish Jain
: Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst...
July 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27790796/functional-characterization-and-rescue-of-a-deep-intronic-mutation-in-ocrl-gene-responsible-for-lowe-syndrome
#6
John Rendu, Rodrick Montjean, Charles Coutton, Mohnish Suri, Gaetan Chicanne, Anne Petiot, Julie Brocard, Didier Grunwald, France Pietri Rouxel, Bernard Payrastre, Joel Lunardi, Olivier Dorseuil, Isabelle Marty, Julien Fauré
Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia. The pathology evolves in two decades to a severe condition with renal complications and a fatal issue. We describe here a proof of principle for a targeted gene therapy on a mutation of the OCRL gene that is associated with Lowe syndrome...
October 28, 2016: Human Mutation
https://www.readbyqxmd.com/read/27766457/decreased-urinary-excretion-of-the-ectodomain-form-of-megalin-a-megalin-in-children-with-ocrl-gene-mutations
#7
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/27708066/long-term-renal-outcome-in-children-with-ocrl-mutations-retrospective-analysis-of-a-large-international-cohort
#8
Marcin Zaniew, Arend Bökenkamp, Marcin Kołbuc, Claudio La Scola, Federico Baronio, Anna Niemirska, Maria Szczepańska, Julia Bürger, Angela La Manna, Monika Miklaszewska, Anna Rogowska-Kalisz, Jutta Gellermann, Argyroula Zampetoglou, Anna Wasilewska, Magdalena Roszak, Jerzy Moczko, Aleksandra Krzemień, Dariusz Runowski, Grzegorz Siteń, Iga Załuska-Leśniewska, Patrizia Fonduli, Franca Zurrida, Fabio Paglialonga, Zoran Gucev, Dusan Paripovic, Rina Rus, Valerie Said-Conti, Lisa Sartz, Woo Yeong Chung, Se Jin Park, Jung Won Lee, Yong Hoon Park, Yo Han Ahn, Przemysław Sikora, Constantinos J Stefanidis, Velibor Tasic, Martin Konrad, Franca Anglani, Maria Addis, Hae Il Cheong, Michael Ludwig, Detlef Bockenhauer
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. METHODS: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization...
October 5, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27449838/high-quality-randomized-controlled-trials-are-needed-to-confirm-the-effectiveness-of-oral-appliances-in-the-management-of-obstructive-sleep-apnea-syndrome
#9
Thikriat S Al-Jewair
ARTICLE TITLE AND BIBLIOGRAPHIC INFORMATION: The effectiveness of oral appliances for obstructive sleep apnea syndrome: a meta-analysis. Zhu Y, Long H, Jian F, Lin J, Zhu J, Gao M, Lai W. J Dent 2015;43:1394-1402. SOURCE OF FUNDING: The review was supported by the National Natural Science Foundation of China and by the Orthodontic National Key Clinical Specialty Construction Program of China TYPE OF STUDY/DESIGN: Systematic review and meta-analysis...
June 2016: Journal of Evidence-based Dental Practice
https://www.readbyqxmd.com/read/27365935/lesch-nyhan-syndrome-disorder-of-self-mutilating-behavior
#10
Prasad Jathar, Amey M Panse, Madhura Jathar, Pritesh N Gawali
Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Prevention of self-mutilation raises significant difficulties. A case of a 10-month-old boy with aggressive behavior and severe lower lip injuries is presented. How to cite this article: Jathar P, Panse AM, Jathar M, Gawali PN...
April 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27274162/hypothyroidism-and-sturge-weber-syndrome-associated-with-bilateral-port-wine-nevus
#11
Gyanendra Saroj, Anshul Gangwar, Jatinder Kaur Dhillon
Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma...
January 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27274161/a-rare-clinical-variant-of-oromandibular-limb-hypogenesis-syndrome-type-i-b
#12
Ritesh Rambharos Kalaskar, Alkesh Godhane, Ashita Kalaskar, Swati Demble
Aglossia is a rare congenital malformation that often occurs as an isolated disorder or is observed in association with other congenital deformities, particularly limb defects. We present a unique case of a 7-year-old girl with aglossia, hypodactyli, rudimentary ears, retrognathic and V-shaped mandible. Her parental history revealed intrauterine exposure of medicines. The patient had problems in difficulty in eating, speech, taste sensation and hearing. The present case does not fit into Hall's classification of oromandibular limb hypogenesis syndrome (OLHS) which best describes hypoglossia and limb deformities...
January 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27257648/the-proteome-of-the-infectious-bronchitis-virus-beau-r-virion
#13
Stuart D Dent, Dong Xia, Jonathan M Wastling, Benjamin W Neuman, Paul Britton, Helena J Maier
Infectious bronchitis is a highly contagious respiratory disease of poultry caused by the coronavirus infectious bronchitis virus (IBV). It was thought that coronavirus virions were composed of three major viral structural proteins until investigations of other coronaviruses showed that the virions also include viral non-structural and genus-specific accessory proteins as well as host-cell proteins. To study the proteome of IBV virions, virus was grown in embryonated chicken eggs, purified by sucrose-gradient ultracentrifugation and analysed by mass spectrometry...
December 2015: Journal of General Virology
https://www.readbyqxmd.com/read/27176005/a-novel-stepwise-micro-tese-approach-in-non-obstructive-azoospermia
#14
Giorgio Franco, Filomena Scarselli, Valentina Casciani, Cosimo De Nunzio, Donato Dente, Costantino Leonardo, Pier Francesco Greco, Alessia Greco, Maria Giulia Minasi, Ermanno Greco
BACKGROUND: The purpose of the study was to investigate whether micro-TESE can improve sperm retrieval rate (SRR) compared to conventional single TESE biopsy on the same testicle or to contralateral multiple TESE, by employing a novel stepwise micro-TESE approach in a population of poor prognosis patients with non-obstructive azoospermia (NOA). METHODS: Sixty-four poor prognosis NOA men undergoing surgical testicular sperm retrieval for ICSI, from March 2007 to April 2013, were included in this study...
2016: BMC Urology
https://www.readbyqxmd.com/read/27011217/the-oculocerebrorenal-syndrome-of-lowe-an-update
#15
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
#16
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/26604546/permanent-maxillary-canine-agenesis-a-rare-case-report
#17
Halaswamy V Kambalimath, Somya Jain, Raju Umaji Patil, Alexander Asokan, Deepashri Kambalimath
Congenitally missing teeth (CMT) are among one of the commonly known dental anomalies. The most frequently missing teeth in the permanent dentition, excluding the third molars, are mandibular second premolars and maxillary lateral incisors. Exclusive agenesis of both maxillary canines is an extremely rare occurrence and only a few cases have been reported. Previous studies showed that the prevalence of maxillary canine agenesis varies between 0.07 and 0.13%. In recent studies on Indian population, no cases of maxillary canine agenesis have been documented...
September 2015: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/26510499/ocrl1-engages-with-the-f-bar-protein-pacsin-2-to-promote-biogenesis-of-membrane-trafficking-intermediates
#18
Peter G Billcliff, Christopher J Noakes, Zenobia B Mehta, Guanhua Yan, LokHang Mak, Rudiger Woscholski, Martin Lowe
Mutation of the inositol 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease. Loss of OCRL1 function perturbs several cellular processes, including membrane traffic, but the underlying mechanisms remain poorly defined. Here we show that OCRL1 is part of the membrane-trafficking machinery operating at the trans-Golgi network (TGN)/endosome interface. OCRL1 interacts via IPIP27A with the F-BAR protein pacsin 2. OCRL1 and IPIP27A localize to mannose 6-phosphate receptor (MPR)-containing trafficking intermediates, and loss of either protein leads to defective MPR carrier biogenesis at the TGN and endosomes...
January 1, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/26479054/-genetic-approach-to-nephrolithiasis
#19
Martino Marangella, Cristina Marcuccio, Corrado Vitale
Nephrolithiasis (NL) has high and increasing prevalence in western countries. Most renal stones contain calcium and/or uric acid and often occur as idiopathic stones, while seldom are caused by genetic disorders. Conversely, cystinuria, xantinuria, 2-8 dihydroxyadeninuria only occur in patients with mutations of corresponding genes. Inherited NL must be suspected in case of early onset, positive family history, severe recurrence rate, associated biochemical disorders, abnormal urinary sediment, renal insufficiency, involvement of other organs or apparatus...
2015: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/26389017/nephrolithiasis-kidney-failure-and-bone-disorders-in-dent-disease-patients-with-and-without-clcn5-mutations
#20
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
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