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Fanconi syndrome

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https://www.readbyqxmd.com/read/29623097/renal-effects-of-non-tenofovir-antiretroviral-therapy-in-patients-living-with-hiv
#1
REVIEW
Milena M McLaughlin, Aimee J Guerrero, Andrew Merker
A review of literature published regarding non-tenofovir antiretroviral agents causing renal adverse effects was conducted. The literature involving renal adverse effects and antiretroviral therapy is most robust with protease inhibitors, specifically atazanavir and indinavir, and includes reports of crystalluria, leukocyturia, nephritis, nephrolithiasis, nephropathy and urolithiasis. Several case reports describe potential nephropathy (including Fanconi syndrome) secondary to administration of abacavir, didanosine, lamivudine and stavudine...
2018: Drugs in Context
https://www.readbyqxmd.com/read/29615394/nephrotoxicity-and-chinese-herbal-medicine
#2
Bo Yang, Yun Xie, Maojuan Guo, Mitchell H Rosner, Hongtao Yang, Claudio Ronco
Chinese herbal medicine has been practiced for the prevention, treatment, and cure of diseases for thousands of years. Herbal medicine involves the use of natural compounds, which have relatively complex active ingredients with varying degrees of side effects. Some of these herbal medicines are known to cause nephrotoxicity, which can be overlooked by physicians and patients due to the belief that herbal medications are innocuous. Some of the nephrotoxic components from herbs are aristolochic acids and other plant alkaloids...
April 3, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29614898/osteomalacia-renal-fanconi-syndrome-and-bone-tumor
#3
Manting Gou, Zhongshu Ma
We herein report two cases of Fanconi syndrome with refractory hypophosphatemic osteomalacia that was difficult to correct by phosphorus replacement therapy. The pathological result was a bony giant cell tumor and osteosarcoma, respectively. Interestingly, after resection of the tumors, the patient with osteosarcoma recovered completely but the patient with the bony giant cell tumor had a relapse. Although she underwent nine operations, her symptoms and laboratory tests did not improve. These findings indicate that Fanconi syndrome can result from a bone tumor...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29610453/sj%C3%A3-gren-s-syndrome-associated-with-fanconi-s-syndrome-and-osteomalacia
#4
Jorge O Gutierrez, Maria F Zurita, Luis A Zurita
BACKGROUND Sjögren's syndrome is a chronic inflammatory autoimmune disease, which is also known as sicca syndrome, due to the symptoms of dry eyes and dry mouth, and is associated with other connective tissue diseases and autoimmune diseases. Sjögren's syndrome can also be associated with renal involvement. Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular acidosis and hypophosphatemia...
April 3, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29606257/-ifosphamide-nephrotoxicity
#5
Gaël Ensergueix, Alexandre Karras
Ifosfamide is a cytotoxic drug usually used in malignant sarcomas. The nephrotoxicity of this agent has been described essentially among children, revealed by renal failure and proximal tubulopathy. We recently conducted a retrospective multicentre study, describing 34 adult patients admitted for ifosfamide nephrotoxicity. More than 80% of them presented with renal failure, diagnosed up to 48 months after ifosfamide administration. A Fanconi syndrome with hypophosphoremia, hypokaliemia, glucosuria and low-molecular weight proteinuria, was present in two third of all cases...
April 2018: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29594088/nephropathic-cystinosis-symptoms-treatment-and-perspectives-of-a-systemic-disease
#6
Sören Bäumner, Lutz T Weber
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cystinosis. Mostly, first symptom in infantile nephropathic cystinosis is renal Fanconi syndrome that occurs within the first year of life...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29575761/osteomalacia-due-to-drug-induced-fanconi-syndrome
#7
Jiacai Cho, Peter P Cheung
The patient, a 70-year-old man, presented with bilateral deep knee pain and myalgia for a year. Ten years ago, he was started on adefovir 10mg daily for hepatitis B. He was also on metformin for diabetes mellitus. Examination revealed mild bilateral patellofemoral crepitus and proximal myopathy. Laboratory investigations showed a raised alkaline phosphatase of 449 U/L (40-130 U/L) and hypophosphatemia of 1.5mg/dL (2.6-4.5mg/dL). This article is protected by copyright. All rights reserved.
March 25, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29558216/fanconi-syndrome-in-irish-wolfhound-siblings
#8
Nick X Bommer, Serena E Brownlie, Linda R Morrison, Marge L Chandler, James W Simpson
Three juvenile male Irish wolfhound littermates presented with marked polyuria and polydipsia. The four female siblings were apparently unaffected. Diagnostic testing revealed glucosuria with normoglycemia, generalized aminoaciduria, hypokalemia and metabolic acidosis consistent with Fanconi syndrome. Renal ultrasonographic and histologic findings are presented. Cases were managed with a supplementation regimen based on a treatment protocol for Fanconi syndrome in basenjis. These dogs did not have angular limb deformities as documented previously in juvenile canine siblings with Fanconi syndrome...
March 20, 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29551056/update-of-aristolochic-acid-nephropathy-in-korea
#9
Tae Hyun Ban, Ji-Won Min, Changhwan Seo, Da Rae Kim, Yu Ho Lee, Byung Ha Chung, Kyung-Hwan Jeong, Jae Wook Lee, Beom Seok Kim, Sang-Ho Lee, Bum Soon Choi, Jin Suk Han, Chul Woo Yang
Background/Aims: The true incidence of aristolochic acid nephropathy (AAN) is thought to be underestimated because numerous ingredients known or suspected to contain aristolochic acid (AA) are used in traditional medicine in Korea. Methods: We collected data on cases of AAN since 1996 via a database in Korea. We evaluated the year of AAN development, route to obtaining AA-containing herbal medicine, gender, reason for taking AA-containing herbal medicine, clinical manifestations, histological findings, phytochemical analysis, and prognosis of patients with AAN...
March 20, 2018: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/29549422/impact-of-atypical-mitochondrial-cyclic-amp-level-in-nephropathic-cystinosis
#10
Francesco Bellomo, Anna Signorile, Grazia Tamma, Marianna Ranieri, Francesco Emma, Domenico De Rasmo
Nephropathic cystinosis (NC) is a rare disease caused by mutations in the CTNS gene encoding for cystinosin, a lysosomal transmembrane cystine/H+ symporter, which promotes the efflux of cystine from lysosomes to cytosol. NC is the most frequent cause of Fanconi syndrome (FS) in young children, the molecular basis of which is not well established. Proximal tubular cells have very high metabolic rate due to the active transport of many solutes. Not surprisingly, mitochondrial disorders are often characterized by FS...
March 16, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29533924/ketohexokinase-c-blockade-ameliorates-fructose-induced-metabolic-dysfunction-in-fructose-sensitive-mice
#11
Miguel A Lanaspa, Ana Andres-Hernando, David J Orlicky, Christina Cicerchi, Cholsoon Jang, Nanxing Li, Tamara Milagres, Masanari Kuwabara, Michael F Wempe, Joshua D Rabinowitz, Richard J Johnson, Dean R Tolan
Increasing evidence suggests a role for excessive intake of fructose in the Western diet as a contributor to the current epidemics of metabolic syndrome and obesity. Hereditary fructose intolerance (HFI) is a difficult and potentially lethal orphan disease associated with impaired fructose metabolism. In HFI, the deficiency of a particular aldolase, aldolase B, results in the accumulation of intracellular phosphorylated fructose thus leading to phosphate sequestration and depletion, increased ATP turnover and a plethora of conditions leading to clinical manifestations including fatty liver, hyperuricemia, Fanconi syndrome and severe hypoglycemia...
March 13, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29515412/acute-lymphoblastic-leukemia-presenting-as-fanconi-syndrome
#12
Tatsunori Yoshida, Hiroshi Tsujimoto, Takayuki Ichikawa, Shinji Kounami, Hiroyuki Suzuki
Acute lymphoblastic leukemia (ALL) presenting as Fanconi syndrome (FS) is extremely rare. Here, we report a case of ALL presenting as bilateral nephromegaly following FS. A 2-year-old girl was unexpectedly diagnosed with bilateral nephromegaly. After 2 weeks, she developed general fatigue, thirst, and polyuria. Laboratory examinations revealed renal tubular acidosis, hypokalemia, hypophosphatemia, and aminoaciduria, and FS was diagnosed. Replacement of bicarbonate and potassium did not improve her condition...
January 2018: Case Reports in Oncology
https://www.readbyqxmd.com/read/29509141/-fanconi-bickel-syndrom-a-novel-genetic-disease-in-original-braunvieh
#13
S Joller, M Stettler, I Locher, M Dettwiler, F Seefried, M Meylan, C Drögemüller
This case report describes a new genetic disease of the Braunvieh breed in Switzerland. The bovine disorder also occurs in German Fleckvieh, and corresponds to human Fanconi-Bickel syndrome which is an inherited glycogen storage disease caused by mutations of the SLC2A2 gene encoding the glucose transporter GLUT2. This case report describes a single affected Original Braunvieh calf genotyped as homozygous for the FH2-associated SLC2A2 frame shift mutation. The clinical examination showed stunted growth, polyuria and polydipsia, as well as poor claw horn and coat quality...
March 2018: Schweizer Archiv Für Tierheilkunde
https://www.readbyqxmd.com/read/29446030/slow-progression-of-renal-failure-in-a-child-with-infantile-cystinosis
#14
Maria Bitsori, Eleni Vergadi, Emmanouil Galanakis
Cystinosis is a rare autosomal recessive lysosomal transport disorder, characterized by the accumulation of the aminoacid cystine and progressive dysfunction of several organs. Kidneys are severely affected, and the most frequent form, infantile nephropathic cystinosis, presents with growth failure in infancy, renal Fanconi syndrome and end-stage renal disease by the first decade of life. We report of a girl with infantile nephropathic cystinosis that has reached adolescence without the need of renal replacement therapy and without extrarenal manifestations despite her delayed diagnosis and treatment initiation...
February 14, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29435075/-brca1-homozygous-unclassified-variant-in-a-patient-with-non-fanconi-anemia-a-case-report
#15
Bondavalli Davide, Malvestiti Francesca, Pensotti Valeria, Feroce Irene, Bonanni Bernardo
The present case report discusses a woman affected by chronic lymphatic leukemia and breast cancer with a familial history of breast cancer; suspected to be hereditary breast and ovarian cancer (HBOC) syndrome. The patient underwent BRCA1 and BRCA2 genetic testing. Sequencing of BRCA1 revealed the presence of the variant of unknown significance (VUS) c.3082C>T (p.Arg1028Cys) at homozygous state, whereas no mutations were detected in BRCA2 . Multiplex ligation-dependent probe amplification confirmed the presence of two alleles...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29421779/nephropathic-cystinosis-mimicking-bartter-syndrome-a-novel-mutation
#16
Funda Bastug, Hulya Nalcacioglu, Fatih Ozaltin, Emine Korkmaz, Sibel Yel
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome...
January 2018: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29416752/fanconi-anemia-germline-variants-as-susceptibility-factors-in-aplastic-anemia-mds-and-aml
#17
Bartlomiej Przychodzen, Hideki Makishima, Mikkael A Sekeres, Suresh Kumar Balasubramanian, Swapna Thota, Bhumika J Patel, Michael Clemente, Cassandra Hirsch, Brittney Dienes, Jaroslaw P Maciejewski
Using next generation sequencing we have systematically analyzed a large cohort of 489 patients with bone marrow failure (BMF), including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), aplastic anemia (AA), and related conditions for the presence of germline (GL) alterations in Fanconi Anemia (FA) and telomerase genes. We have detected an increased frequency of heterozygous FA gene mutations in MDS and to lesser degree in AML suggesting that the presence of one normal allele may not be completely protective and indeed heterozygous FA lesions may have a long latency period before hematologic manifestation...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29403087/cerebellar-ataxia-dominant-phenotype-in-patients-with-ercc4-mutations
#18
Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa, Misako Kunii, Atsuko Tomita-Katsumoto, Kayoko Oda, Yukie Yamaguchi, Ryoko Fukai, Shingo Ikeda, Rumiko Kato, Katsuhisa Ogata, Shun Kubota, Noriko Hayashi, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Tomoo Ogi, Michiko Aihara, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. All of the patients described here showed very slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with young adolescent or midlife onset...
February 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29399572/hypophosphatemic-osteomalacia-with-multiple-bone-fractures-adv-induced-fanconi-s-syndrome
#19
Jee Hyuk Kim, Heung Yong Jin, Hong Sun Baek, Kyung Ae Lee
No abstract text is available yet for this article.
January 2018: Chonnam Medical Journal
https://www.readbyqxmd.com/read/29377497/reduced-cell-division-control-protein-42-activity-compromises-hematopoiesis-supportive-function-of-fanconi-anemia-mesenchymal-stromal-cells
#20
Jian Xu, Xue Li, Allison Cole, Zachary Sherman, Wei Du
Hematopoietic stem cells preserve their ability to self-renew and differentiate to different lineages in the bone marrow (BM) niche, which is composed in large part by BM stromal cells. Studies have shown that altered signaling in the BM niche results in leukemia initiation or progression. Fanconi anemia (FA) is an inherited BM failure syndrome associated with extremely high risk of leukemic transformation. By using two FA mouse models, here we have investigated the hematopoiesis-supportive function of FA BM mesenchymal stroma cells (MSCs)...
January 27, 2018: Stem Cells
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