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Nephropathic cystinosis

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https://www.readbyqxmd.com/read/28692321/a-systematic-literature-review-of-cysteamine-bitartrate-in-the-treatment-of-nephropathic-cystinosis
#1
Medic Goran, Miriam van der Weijden, Andreas Karabis, Michiel Hemels
OBJECTIVES: To summarize available clinical evidence for cysteamine bitartrate preparations in the treatment of nephropathic cystinosis as identified through a systematic literature review (SLR). METHODS: We searched MEDLINE, MEDLINE In-Process and EMBASE using Ovid® with a predefined search strategy through 19(th) January 2016. All publicly available clinical reports on the use of delayed-release (DR) cysteamine bitartrate (PROCYSBI®) or immediate-release (IR) cysteamine bitartrate (Cystagon®) in patients with cystinosis were included...
July 10, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28673276/worldwide-view-of-nephropathic-cystinosis-results-from-a-survey-from-30-countries
#2
Aurélia Bertholet-Thomas, Julien Berthiller, Velibor Tasic, Behrouz Kassai, Hasan Otukesh, Marcella Greco, Jochen Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos Jose Cobenas, Bülent Hacihamdioglu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta
BACKGROUND: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. METHODS: A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries...
July 3, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28638260/infantile-nephropathic-cystinosis-a-novel-ctns-mutation
#3
Hakan Doneray, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel CTNS mutation.
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28629674/cystinosis-distal-myopathy-novel-clinical-pathological-and-genetic-features
#4
Macarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G Laing, Conrad C Weihl, Phillipa J Lamont
Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement...
May 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28490397/aortic-dissection-and-cystinosis-is-there-any-relationship
#5
Masih Tajdini, Mehdi Bayati, Ali Vasheghani-Farahani
Cystinosis is a rare, autosomal-recessive genetic disorder. The kidneys are commonly involved, as there is cystinosin protein malfunction, and nephropathic cystinosis ensues. Although cardiac and vascular involvements are rare, we describe a unique case of aortic dissection in a 25-year-old female with cystinosis. We discuss the possible aetiologies of aortic dissection in this condition.
May 11, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28405942/first-successful-conception-induced-by-a-male-cystinosis-patient
#6
Koenraad R Veys, Kathleen W D'Hauwers, Angelique J C M van Dongen, Mirian C Janssen, Martine T P Besouw, Ellen Goossens, Lambert P van den Heuvel, Alex A M M Wetzels, Elena N Levtchenko
Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction. Azoospermia of unknown origin is the main cause of infertility in all male cystinosis patients. Although spermatogenesis has shown to be intact at the testicular level in some patients, no male cystinosis patient has been reported yet to have successfully induced conception.We present the first successful conception ever reported, induced by a 27-year-old male renal transplant infantile nephropathic cystinosis patient through percutaneous epididymal sperm aspiration (PESA) followed by intracytoplasmatic sperm injection (ICSI)...
April 13, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28343471/ocular-complications-of-infantile-nephropathic-cystinosis
#7
Rachel Bishop
No abstract text is available yet for this article.
April 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#8
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28238446/ctns-molecular-genetics-profile-in-a-persian-nephropathic-cystinosis-population
#9
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A Gahl, Babak Behnam
PURPOSE: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS...
February 23, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28107209/nephropathic-cystinosis-an-update
#10
Koenraad R Veys, Mohamed A Elmonem, Fanny O Arcolino, Lambertus van den Heuvel, Elena Levtchenko
PURPOSE OF REVIEW: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes. RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis...
January 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28057644/efficacy-of-topical-cysteamine-in-nephropathic-cystinosis
#11
Amal Al-Hemidan, Samir S Shoughy, Igor Kozak, Khalid F Tabbara
PURPOSE: The aim of this study is to evaluate the efficacy of topical cysteamine 0.55% eye drops in the treatment of corneal cystine crystal deposits in patients with nephropathic cystinosis. METHODS: Thirty-two patients with nephropathic cystinosis were prospectively included in the study. Patients with corneal cystinosis were treated with topical cysteamine 0.55% eye drops. They were examined before treatment, on each monthly visit and after treatment at the last follow-up...
January 5, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27771488/preformulation-of-cysteamine-gels-for-treatment-of-the-ophthalmic-complications-in-cystinosis
#12
Barbara McKenzie, Graeme Kay, Kerr H Matthews, Rachel Knott, Donald Cairns
Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of all organs. It is treated by regular administration of the aminothiol, cysteamine. Corneal crystal deposition is one of the most troublesome complications affecting patients and requires the hourly administration of cysteamine eye drops. In an attempt to reduce this frequency and improve the treatment, the preformulation and evaluation of cysteamine containing gels is reported. Suitability for ophthalmic delivery was determined by analysis of rheology, bioadhesion, dissolution and stability...
December 30, 2016: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/27579165/skeletal-implications-and-management-of-cystinosis-three-case-reports-and-literature-review
#13
REVIEW
Justine Bacchetta, Marcella Greco, Aurélia Bertholet-Thomas, François Nobili, Jozef Zustin, Pierre Cochat, Francesco Emma, Georges Boivin
Hypophosphatemic rickets and short stature are observed in nephropathic cystinosis, an orphan autosomal recessive lysosomal storage disease due to a deficiency of cystinosin (CTNS gene). Although bone impairment is not common, it nevertheless appears to be more and more discussed by experts, even though the exact underlying pathophysiology is unclear. Four hypotheses are currently discussed to explain such impairment: copper deficiency, bone consequences of severe hypophosphatemic rickets during infancy, cysteamine toxicity and abnormal thyroid metabolism...
2016: BoneKEy Reports
https://www.readbyqxmd.com/read/27536690/autophagy-in-chronic-kidney-diseases
#14
REVIEW
Na Liu, Yingfeng Shi, Shougang Zhuang
BACKGROUND: Autophagy is the degrading process of protein and organelles mediated by lysosomes. This process is involved in purging senescent organelles and subversive proteins while maintaining the stability of the intracellular environment. This phenomenon is highly conservative, existing in nearly every species, and is involved in cell growth, proliferation and tumorigenesis. SUMMARY: In recent decades, with the discovery of autophagy-related genes and proteins in conjunction with the improvement in detection methods, the study of autophagy is constantly achieving new breakthroughs...
April 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27493869/muscle-wasting-and-adipose-tissue-browning-in-infantile-nephropathic-cystinosis
#15
Wai W Cheung, Stephanie Cherqui, Wei Ding, Mary Esparza, Ping Zhou, Jianhua Shao, Richard L Lieber, Robert H Mak
BACKGROUND: Muscle wasting is a common complication in patients with infantile nephropathic cystinosis, but its mechanism and association with energy metabolism is not known. We define the metabolic phenotype in Ctns(-/-) mice, an established murine model of infantile nephropathic cystinosis, with focus on muscle wasting and energy homeostasis. METHODS: Male Ctns(-/-) mice and wild-type (WT) controls were studied at 1, 4, 9, and 12 months of age. As Ctns(-/-) mice started to develop chronic kidney disease (CKD) at 9 months of age, 9- and 12-month-old Ctns(-/-) mice were also compared with age-matched WT mice with CKD...
May 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27451386/ca-2-signalling-in-human-proximal-tubular-epithelial-cells-deficient-for-cystinosin
#16
Ekaterina A Ivanova, Mohamed A Elmonem, Inge Bongaerts, Tomas Luyten, Ludwig Missiaen, Lambertus P van den Heuvel, Elena N Levtchenko, Geert Bultynck
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder caused by loss-of-function mutations in the CTNS gene coding for the lysosomal cystine transporter, cystinosin. Recent studies have demonstrated that, apart from cystine accumulation in the lysosomes, cystinosin-deficient cells, especially renal proximal tubular epithelial cells are characterized by abnormal vesicle trafficking and endocytosis, possible lysosomal dysfunction and perturbed intracellular signalling cascades. It is therefore possible that Ca(2+) signalling is disturbed in cystinosis, as it has been demonstrated for other disorders associated with lysosomal dysfunction, such as Gaucher, Niemann-Pick type C and Alzheimer's diseases...
October 2016: Cell Calcium
https://www.readbyqxmd.com/read/27350621/switching-from-immediate-to-extended-release-cysteamine-in-nephropathic-cystinosis-patients-a-retrospective-real-life-single-center-study
#17
Thurid Ahlenstiel-Grunow, Nele K Kanzelmeyer, Kerstin Froede, Martin Kreuzer, Jens Drube, Christian Lerch, Lars Pape
BACKGROUND: Nephropathic cystinosis is a rare lysosomal storage disease which is characterized by the accumulation of free cystine in lysosomes and subsequent intracellular crystal formation of cystine throughout the body. If not treated with cysteamine, a cystine-depleting agent, end-stage renal disease will develop early, followed by multiple organ failure as the disease progresses. The established cysteamine formulation requires a strict dosing regimen at 6-h intervals. An extended release (ER) twice-daily formulation has recently been developed...
January 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27269891/cystinosis-in-eastern-turkey
#18
Murat Doğan, Keziban Bulan, Sultan Kaba, Yaşar Cesur, Serdar Ceylaner, Lokman Ustyol
BACKGROUND: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. METHODS: Patients' clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. RESULTS: Eleven patients (age range: 1...
August 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27215258/infantile-nephropathic-cystinosis-with-incomplete-fanconi-syndrome-hypothyroidism-hydro-uretero-nephrosis-and-megacystis
#19
Vaishali More, Preeti Shanbag
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder. We describe the clinical features in a four and a half-year-old Indian boy with infantile nephropathic cystinosis that presented with the incomplete Fanconi syndrome, hydro-uretero-nephrosis with megacystis, and hypothyroidism.
May 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27181776/controversies-and-research-agenda-in-nephropathic-cystinosis-conclusions-from-a-kidney-disease-improving-global-outcomes-kdigo-controversies-conference
#20
Craig B Langman, Bruce A Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer, Graham Lipkin, Julian P Midgley, Chris Ottolenghi, Aude Servais, Neveen A Soliman, Jess G Thoene, Elena N Levtchenko
Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care...
June 2016: Kidney International
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