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"Fanconi's syndrome"

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https://www.readbyqxmd.com/read/27904113/fanconi-syndrome-associated-with-hyponatremia-in-two-patients-with-legionella-pneumonia
#1
Akihiro Ryuge, Yasuhiko Ito, Taishi Yamakawa, Hitoshi Tanaka, Hirotoshi Yasui, Shuko Mashimo, Kenshi Watanabe, Rie Nomura, Nobukazu Suganuma, Shoichi Maruyama
Legionella pneumophila is a cause of community-acquired pneumonia that is reported to induce electrolyte disorders, including hyponatremia, hypokalemia, and hypophosphatemia. We herein report two Japanese men with Legionella pneumonia and hyponatremia and hypophosphatemia. These findings were associated with an elevation of urinary low-molecular-weight tubular protein, including urinary β2-microglobulin, N-acetyl-β-D-glucosaminidase, the fractional excretion of phosphate and uric acid, and the presence of glycosuria and panaminoaciduria, suggesting that their electrolyte disorders had been caused by Fanconi syndrome...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#2
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/27866471/distal-renal-tubular-acidosis-without-renal-impairment-after-use-of-tenofovir-a-case-report
#3
Kentaro Iwata, Manabu Nagata, Shuhei Watanabe, Shinichi Nishi
BACKGROUND: Tenofovir, one of antiretroviral medication to treat human immunodeficiency virus (HIV) infection, is known to cause proximal renal tubular acidosis such as Fanconi syndrome, but cases of distal renal tubular acidosis had never been reported. CASE PRESENTATION: A 20-year-old man with HIV infection developed nausea and vomiting without diarrhea after starting antiretroviral therapy. Arterial blood gas revealed non-anion-gap metabolic acidosis and urine test showed positive urine anion gap...
November 21, 2016: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27843372/wissler-fanconi-syndrome-and-related-diagnoses-a-case-report
#4
Mustafa Q Albustani, Robert F Howard
INTRODUCTION: Wissler-Fanconi syndrome is a rare rheumatic syndrome that was first described during the 1940s in Europe. Since then, many papers have been written that cover all aspects of this syndrome, most of which are in French and German language, with only a very few in English (none of them recent). We report here a case that fulfils the criteria for Wissler-Fanconi syndrome. Under the more general descriptive umbrella of Wissler-Fanconi syndrome, our patient also fulfils the Modified Jones criteria, and the 2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for rheumatoid arthritis, and was interpreted by other internists and another rheumatologist as fulfilling the Yamaguchi criteria for adult onset Still's disease...
2016: Open Access Rheumatol
https://www.readbyqxmd.com/read/27799484/renal-fanconi-syndrome-and-hypophosphatemic-rickets-in-the-absence-of-xenotropic-and-polytropic-retroviral-receptor-in-the-nephron
#5
Camille Ansermet, Matthias B Moor, Gabriel Centeno, Muriel Auberson, Dorothy Zhang Hu, Roland Baron, Svetlana Nikolaeva, Barbara Haenzi, Natalya Katanaeva, Ivan Gautschi, Vladimir Katanaev, Samuel Rotman, Robert Koesters, Laurent Schild, Sylvain Pradervand, Olivier Bonny, Dmitri Firsov
Tight control of extracellular and intracellular inorganic phosphate (Pi) levels is critical to most biochemical and physiologic processes. Urinary Pi is freely filtered at the kidney glomerulus and is reabsorbed in the renal tubule by the action of the apical sodium-dependent phosphate transporters, NaPi-IIa/NaPi-IIc/Pit2. However, the molecular identity of the protein(s) participating in the basolateral Pi efflux remains unknown. Evidence has suggested that xenotropic and polytropic retroviral receptor 1 (XPR1) might be involved in this process...
October 31, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27790753/renal-dysfunction-in-patients-taking-fumaric-acid-esters-a-retrospective-cross-sectional-study
#6
S Menzies, N Ismail, A Abdalla, P Collins, B Kirby, J Holian, A Lally
BACKGROUND: Fumaric acid esters (FAE) have been used for over 30 years in the management of psoriasis. There have been a number of case reports linking the use of FAE with nephrotoxicity, including acute renal injury and Fanconi syndrome. However, one large multicentre retrospective trial showed no evidence of renal dysfunction with FAE. OBJECTIVES/AIMS: The aim of this study was to determine the number of patients in our institution being treated with FAE who developed significant proteinuria or renal dysfunction...
October 28, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27771652/fanconi-bickel-syndrome-with-hypercalciuria-due-to-glut-2-mutation
#7
Ruchi Shah, Sudha Rao, Ruchi Parikh, Tahir Sophia, Hussain Khalid
BACKGROUND: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare. CASE CHARACTERISTICS: 4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria. OUTCOME: A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome. MESSAGE: Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia...
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27746441/bone-histology-of-two-cases-with-osteomalacia-related-to-low-dose-adefovir
#8
Rikako Hiramatsu, Yoshifumi Ubara, Naoki Sawa, Eiko Hasegawa, Masahiro Kawada, Aya Imafuku, Keiichi Sumida, Junichi Hoshino, Kenmei Takaichi
We performed a bone histomorphometric analysis in two patients demonstrating Fanconi syndrome with hypophosphatemia, adefovir-related bone disease and chronic hepatitis B infection. Both patients had osteomalacia, but showed two different histological patterns. The osteoid volume of the patient without risedronate increased with [(osteoid volume/ bone volume)×100=18.6%]. However, the osteoid volume of the patient receiving risedronate without vitamin D analogue showed a greater increase of 53.8%. In both patients bone pain and hypophosphatemia subsided soon after the discontinuation of adefovir and the administration of phosphate derivative...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27728607/fanconi-syndrome-in-paraquat-poisoning
#9
Narendran Krishnamoorthi, Christopher C Pais, Muralidhara Yadiyal B, Pradeep Kumar Shenoy, Riffat Abdulaziz
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27707682/detection-of-candidatus-neoehrlichia-mikurensis-and-other-anaplasmataceae-and-rickettsiaceae-in-canidae-in-switzerland-and-mediterranean-countries
#10
R Hofmann-Lehmann, N Wagmann, M L Meli, B Riond, M Novacco, D Joekel, F Gentilini, F Marsilio, M G Pennisi, A Lloret, T Carrapiço, F S Boretti
'Candidatus Neoehrlichia mikurensis' is an emerging tick-borne zoonotic agent that primarily affects immunocompromised human patients. Dogs and foxes are frequently exposed to ticks, and both species are in close proximity to humans. This is the first study to systematically investigate the occurrence of 'Candidatus Neoehrlichia mikurensis' in Canidae in Europa. We analyzed 1'739 blood samples from dogs in Switzerland, Italy, Spain and Portugal and 162 blood samples from free-ranging red foxes (Vulpes vulpes) in Switzerland...
October 2016: Schweizer Archiv Für Tierheilkunde
https://www.readbyqxmd.com/read/27683045/melas-syndrome-and-kidney-disease-without-fanconi-syndrome-or-proteinuria-a-case-report
#11
Michael Rudnicki, Johannes A Mayr, Johannes Zschocke, Herwig Antretter, Heinz Regele, René G Feichtinger, Martin Windpessl, Gert Mayer, Gerhard Pölzl
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA(Leu(UUR)). Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria...
September 24, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/27679714/serum-fgf23-levels-may-not-be-associated-with-serum-phosphate-and-1-25-dihydroxyvitamin-d-levels-in-patients-with-fanconi-syndrome-induced-hypophosphatemia
#12
Shunsuke Goto, Hideki Fujii, Keiji Kono, Kentaro Watanabe, Kentaro Nakai, Shinichi Nishi
Fibroblast growth factor 23 (FGF23) is regulated by sustained phosphate supplementation and restriction. However, few studies have investigated FGF23 levels in patients with Fanconi syndrome. Therefore, we evaluated intact and C-terminal FGF23 and FGF23-associated parameters in four patients with Fanconi syndrome. Serum intact and C-terminal FGF23 levels were extremely low. Although serum phosphate and 1,25-dihydroxyvitamin D levels improved to or above the normal range within 1 year of treatment with oral phosphate and calcitriol, serum FGF23 levels remained low...
October 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27623519/-tenofovir-associated-fanconi-s-syndrome-and-rickets-in-a-hiv-infected-girl
#13
Marcela Zúñiga, Armando Galindo, María Isabel Galaz, Maritza Vivanco, Patricio Romero, Paulina Balboa, Claudia Torrejón
INTRODUCTION: Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. OBJECTIVE: To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF. CLINICAL CASE: We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment...
September 9, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27617066/bilineal-acute-leukemia-associated-with-fanconi-syndrome-the-first-case-report
#14
Ghasem Miri-Aliabad, Maryam Sadat-Hosseini, Akbar Dorgalaleh
Fanconi syndrome is a metabolic disorder involving dysfunction of the renal proximal tubules, resulting in excessive urinary excretion of several metabolites. Various factors may lead to Fanconi syndrome, as it may be a genetic disease with primary or secondary etiologies, or may be acquired. In this study, we report a unique case of Fanconi syndrome with development of a relatively rare acute leukemia, a condition that has not been reported before. The case was an 8-year-old boy with familial occurrence of Fanconi syndrome, presenting with pallor, asthenia, recurrent infections, growth failure, and a variety of biochemical and hematological abnormalities...
June 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/27574926/tenofovir-induced-fanconi-syndrome-presenting-as-hypokalemic-periodic-paralysis
#15
Sukhdeep Bhogal
No abstract text is available yet for this article.
August 29, 2016: American Journal of Therapeutics
https://www.readbyqxmd.com/read/27571496/comparison-of-the-effectiveness-and-renal-safety-of-tenofovir-versus-entecavir-in-patients-with-chronic-hepatitis-b
#16
Beatriz López Centeno, Roberto Collado Borrell, Montserrat Pérez Encinas, Maria Luisa Gutiérrez García, Patricia Sanmartin Fenollera
OBJECTIVE: To compare the effectiveness and renal safety of treatment with tenofovir versus entecavir in patients with chronic hepatitis-B. METHODS: Retrospective study in hepatitis-B patients who initiated treatment with tenofovir or entecavir since January 1998 until 2013. The primary effectiveness variable was defined as viral DNA < 20 UI/ml (HBV-DNA) and the variable for renal safety was variations in glomerular filtration rate (eGFR) after 48 weeks of treatment...
June 1, 2016: Farmacia Hospitalaria
https://www.readbyqxmd.com/read/27571122/fanconi-anemia-and-fanconi-syndrome-time-to-correct-the-misnomers
#17
Ossama M Maher, Hatel R Moonat
No abstract text is available yet for this article.
October 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27570349/malingering-and-factitious-disorder-m%C3%A3-nchausen-syndrome-can-be-mitochondrial
#18
Josef Finsterer, Lässer Stefan
Malingering and factitious disorder (Münchausen-syndrome) has not been reported as a manifestation of a mitochondrial-disorder (MID). Here, we report a 46 years-old female with a MID due to a combined complex I-IV defect, manifesting in the cerebrum, muscle, bone marrow, kidneys, and the endocrine glands. Myopathy showed up as myalgia, easy fatigability, ptosis, and abnormal muscle biopsy. Endocrine involvement manifested as short stature and thyroid dysfunction. Involvement of the kidneys manifested as mild Fanconi syndrome...
July 2016: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/27526707/paraprotein-related-kidney-disease-kidney-injury-from-paraproteins-what-determines-the-site-of-injury
#19
Mona Doshi, Amit Lahoti, Farhad R Danesh, Vecihi Batuman, Paul W Sanders
Disorders of plasma and B cells leading to paraproteinemias are associated with a variety of renal diseases. Understanding the mechanisms of injury and associated nephropathies provides a framework that aids clinicians in prompt diagnosis and appropriate adjunctive treatment of these disorders. Glomerular diseases that may be associated with paraproteinemias include amyloid deposition, monoclonal Ig deposition disease, proliferative GN with monoclonal Ig deposits, C3 glomerulopathy caused by alterations in the complement pathway, immunotactoid glomerulopathy, fibrillary GN, and cryoglobulinemia...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27526705/paraprotein-related-kidney-disease-diagnosing-and-treating-monoclonal-gammopathy-of-renal-significance
#20
Mitchell H Rosner, Amaka Edeani, Motoko Yanagita, Ilya G Glezerman, Nelson Leung
Paraprotein-related kidney disease represents a complex group of diseases caused by an abnormal paraprotein secreted by a clone of B cells. The disease manifestations range from tubulopathies, such as the Fanconi syndrome, to a spectrum of glomerular diseases that can present with varying degrees of proteinuria and renal dysfunction. Diagnosis of these diseases can be challenging because of the wide range of manifestations as well as the relatively common finding of a serum paraprotein, especially in elderly patients...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
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