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"Fanconi's syndrome"

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https://www.readbyqxmd.com/read/28109116/aminoaciduria-caused-by-fanconi-syndrome-in-a-heifer
#1
N Cesbron, L Dorso, A-L Royer, G Dervilly-Pinel, J Hervé
A case study of renal tubular dysfunction consistent with idiopathic Fanconi syndrome is reported in an 18-month-old Holstein heifer. The clinical, biochemical, and histopathological features are described. The heifer had clinical signs of growth retardation, wasting, and persistent diarrhea. Biochemical blood analysis identified hypokalemia, hyponatremia, and hypochloremia. Urinalysis identified glycosuria, proteinuria, and acidic pH. Histological examination of the kidney disclosed mild tubular necrosis with proteinaceous casts in the lumina of renal tubules...
January 21, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28070473/renal-infiltration-by-diffuse-large-b-cell-lymphoma-as-a-rare-cause-of-fanconi-s-syndrome-a-case-report
#2
Shoab Saadat, Syed Nayer Mahmud, Asim Qureshi
We report the case of a 16-year-old female patient with a known history of coeliac disease, who presented with the complaints of diarrhea, vomiting and generalized body weakness. On examination, she was found to have dehydration, decreased power in all her limbs, cervical lymphadenopathy and hepatosplenomegaly. Investigations showed severe hypokalemia, hyponatremia, hypomagnesemia, hypoglycemia and mildly enlarged kidneys on ultrasonography. Biopsy of the duodenum confirmed the flare up of coeliac disease, while cervical lymph node biopsy was positive for atypical lymphoid infiltrate and a morphology suggestive of non-Hodgkin's lymphoma...
November 30, 2016: Curēus
https://www.readbyqxmd.com/read/28025475/-a-case-of-tenofovir-associated-fanconi-syndrome-in-patient-with-chronic-hepatitis-b
#3
Dongwoo Kim, Jongjin Lee, Dae Ha Kim, Kyuho Kang, Sang Jun Suh, Young Kul Jung, Hyung Joon Yim
Tenofovir disoproxil fumarate (TDF) is one of the most widely used treatment options for human immunodeficiency virus (HIV) and HBV infections. Despite its efficacy and safety, some cases of nephrotoxicity have been reported in the treatment of HIV patients. Even more recently, very few cases of Fanconi syndrome associated with tenofovir therapy in HBV monoinfection have been reported. Herein, we report a case of a 47-year-old male with an HBV monoinfection, who developed Fanconi syndrome and a secondary osteomalacia with multiple bone pain...
December 25, 2016: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28007512/-the-complex-phenotype-of-arc-syndrome-a-new-case
#4
A Giraud, F Ramond, C Cremillieux, R Touraine, H Patural, J-L Stephan
ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet...
December 19, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27994603/fibroblast-growth-factor-23-and-hypophosphatemia-a-case-of-hypophosphatemia-along-the-rickets-osteomalacia-spectrum
#5
REVIEW
George T Georges, O Nájera, Kurt Sowers, James R Sowers
Phosphorus is a key component of bone, and a deficiency results in poor mineralization along with other systemic symptoms of hypophosphatemia. Various causes of hypophosphatemia with renal wasting of phosphorus have been identified. These include the Fanconi syndrome, various genetic mutations of fibroblast growth factor 23 (FGF23) handling and the sodium/phosphate cotransporter, and those due to FGF23 secretion by mesenchymal tumors. Depending on the cause, vitamin D metabolism may also be impaired, which may amplify the deficiency in phosphorus and render treatment more challenging...
November 2016: Cardiorenal Medicine
https://www.readbyqxmd.com/read/27990015/the-renal-fanconi-syndrome-in-cystinosis-pathogenic-insights-and-therapeutic-perspectives
#6
REVIEW
Stephanie Cherqui, Pierre J Courtoy
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter, cystinosin, which results in an accumulation of cystine in all organs. Despite the ubiquitous expression of cystinosin, a renal Fanconi syndrome is often the first manifestation of cystinosis, usually presenting within the first year of life and characterized by the early and severe dysfunction of proximal tubule cells, highlighting the unique vulnerability of this cell type...
February 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27957423/crystalline-podocytopathy-and-tubulopathy-without-overt-glomerular-proteinuria-in-a-patient-with-multiple-myeloma
#7
Eun Jeong Lee, Su Yeon Lee, So Young Park, Yonjin Kim, Jae Shin Choi, Mi Jeoung Kim, Ji Hyeon Park, Jung Eun Lee, Ghee Young Kwon, Yoon-Goo Kim
Crystalline nephropathy is a rare yet well-known condition associated with multiple myeloma and other light chain-secreting disorders. Paraproteins that are resistant to proteolysis crystallize within proximal tubular cells and cause light-chain proximal tubulopathy, which presents clinically as Fanconi syndrome. Podocytes are rarely affected, and the crystalline inclusions within podocytes are typically precipitated, yielding significant glomerular proteinuria. Here we report a case of extensive crystalline inclusions primarily within podocytes and proximal tubules that presented only with Fanconi syndrome and renal insufficiency...
December 2016: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/27904113/fanconi-syndrome-associated-with-hyponatremia-in-two-patients-with-legionella-pneumonia
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
December 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
#19
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
#20
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
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