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Fanconi syndrome

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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
#1
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/28067165/gene-therapy-in-fanconi-anemia-a-matter-of-time-safety-and-gene-transfer-tool-efficiency
#2
Verhoeyen Els, Francisco José Román Rodríguez, François-Loïc Cosset, Camille Lévy, Paula Rio
Fanconi anemia (FA) is a rare genetic syndrome characterized by progressive marrow failure. Gene therapy by infusion of FA-corrected autologous hematopoietic stem cells (HSCs) may offer a potential cure since it is a monogenetic disease with mutations in the FANC genes, coding for DNA repair enzymes (See review[1]). However, the collection of hCD34 +-cells in FA patients implies particular challenges because of the reduced numbers of progenitor cells present in their bone marrow (BM)[2] or mobilized peripheral blood[3-5]...
January 9, 2017: Current Gene Therapy
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...
December 19, 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27986371/mechanism-of-ubiquitination-and-deubiquitination-in-the-fanconi-anemia-pathway
#7
Sylvie van Twest, Vincent J Murphy, Charlotte Hodson, Winnie Tan, Paolo Swuec, Julienne J O'Rourke, Jörg Heierhorst, Wayne Crismani, Andrew J Deans
Monoubiquitination and deubiquitination of FANCD2:FANCI heterodimer is central to DNA repair in a pathway that is defective in the cancer predisposition syndrome Fanconi anemia (FA). The "FA core complex" contains the RING-E3 ligase FANCL and seven other essential proteins that are mutated in various FA subtypes. Here, we purified recombinant FA core complex to reveal the function of these other proteins. The complex contains two spatially separate FANCL molecules that are dimerized by FANCB and FAAP100. FANCC and FANCE act as substrate receptors and restrict monoubiquitination to the FANCD2:FANCI heterodimer in only a DNA-bound form...
December 9, 2016: Molecular Cell
https://www.readbyqxmd.com/read/27957423/crystalline-podocytopathy-and-tubulopathy-without-overt-glomerular-proteinuria-in-a-patient-with-multiple-myeloma
#8
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/27942182/acquired-bartter-syndrome-following-gentamicin-therapy
#9
J Singh, M L Patel, K K Gupta, S Pandey, A Dinkar
Aminoglycoside nephrotoxicity may manifest as nonoliguric renal failure or tubular dysfunction, such as Fanconi-like syndrome, Bartter-like syndrome (BS), or distal renal tubular acidosis. We report a case who developed severe renal tubular dysfunction on the the 7(th) day of gentamicin therapy, resulting in metabolic alkalosis, refractory hypokalemia, hypocalcemia, hypomagnesemia, and polyuria. The patient was diagnosed as a case of transient BS associated with gentamicin exposure. The patient recovered with conservative management...
November 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/27904113/fanconi-syndrome-associated-with-hyponatremia-in-two-patients-with-legionella-pneumonia
#10
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
#11
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/27883081/v-d-j-recombination-process-and-the-pre-b-to-immature-b-cells-transition-are-altered-in-fanca-mice
#12
Thuy Vy Nguyen, Patrycja Pawlikowska, Virginie Firlej, Filippo Rosselli, Saïd Aoufouchi
B-lymphocytes in the bone marrow (BM) must generate a functional B-cell receptor and overcome the negative selection induced by reactivity with autoantigens. Two rounds of DNA recombination are required for the production of functional immunoglobulin heavy (Ig-HCs) and light (LCs) chains necessary for the continuation of B-lymphocyte development in the BM. Both rounds depend on the joint action of recombination activating gene-1 (RAG-1) and RAG-2 endonucleases with the DNA non-homologous end-joining pathway...
November 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27867521/exome-first-approach-identified-a-novel-gloss-deletion-associated-with-lowe-syndrome
#13
Miki Watanabe, Ryuji Nakagawa, Tomohiro Kohmoto, Takuya Naruto, Ken-Ichi Suga, Aya Goji, Hideaki Horikawa, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27866471/distal-renal-tubular-acidosis-without-renal-impairment-after-use-of-tenofovir-a-case-report
#14
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
#15
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/27831662/loss-of-the-tgf-%C3%AE-effector-%C3%AE-2sp-promotes-genomic-instability
#16
Jian Chen, Vivek Shukla, Patrizia Farci, Jaclyn Andricovich, Wilma Jogunoori, Lawrence N Kwong, Lior H Katz, Kirti Shetty, Asif Rashid, Xiaoping Su, Jon White, Lei Li, Alan Yaoqi Wang, Boris Blechacz, Gottumukkala S Raju, Marta Davila, Bao-Ngoc Nguyen, John R Stroehlein, Junjie Chen, Sang Soo Kim, Heather Levin, Keigo Machida, Hidekazu Tsukamoto, Peter Michaely, Alexandros Tzatsos, Lopa Mishra
Exposure to genotoxins such as ethanol-derived acetaldehyde leads to DNA damage and liver injury, and promotes the development of cancer. We report here a major role for the TGF-β/Smad3 adaptor β2-Spectrin (β2SP, gene Sptbn1) in maintaining genomic stability following alcohol-induced DNA damage. β2SP supports DNA repair through β2SP-dependent activation of Fancd2, a core component of the Fanconi anemia complex. Loss of β2SP leads to decreased Fancd2 levels and sensitizes β2SP mutants to DNA damage by ethanol treatment, leading to phenotypes that closely resemble those observed in animals lacking both Aldh2 and Fancd2, and resemble human fetal alcohol syndrome...
November 5, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27799484/renal-fanconi-syndrome-and-hypophosphatemic-rickets-in-the-absence-of-xenotropic-and-polytropic-retroviral-receptor-in-the-nephron
#17
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
#18
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
#19
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/27760710/recent-discoveries-in-the-molecular-pathogenesis-of-the-inherited-bone-marrow-failure-syndrome-fanconi-anemia
#20
REVIEW
Nicholas E Mamrak, Akiko Shimamura, Niall G Howlett
Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified-RAD51/FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and REV7/FANCV-bringing the total number of disease-causing genes to 21...
October 13, 2016: Blood Reviews
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