keyword
MENU ▼
Read by QxMD icon Read
search

"Fanconi's syndrome"

keyword
https://www.readbyqxmd.com/read/29326807/heavy-chain-diseases-and-myeloma-associated-fanconi-syndrome-an-update
#1
REVIEW
Roberto Ria, Franco Dammacco, Angelo Vacca
The heavy chain diseases (HCDs) are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain. There are three types of HCD, defined by the class of immunoglobulin heavy chain produced: IgA (α-HCD), IgG (γ-HCD), and IgM (μ-HCD). Alpha-HCD is the most common and usually occurs as intestinal malabsorption in a young adult from a country of the Mediterranean area. Gamma- and μ-HCDs are rarer and associated with a B-cell non-Hodgkin lymphoma that produces an abnormal Ig heavy chain...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29260317/effects-of-long-term-cysteamine-treatment-in-patients-with-cystinosis
#2
REVIEW
Gema Ariceta, Vincenzo Giordano, Fernando Santos
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. Patients with infantile nephropathic cystinosis, the most common and most severe clinical form of cystinosis, commonly present with renal Fanconi syndrome by 6-12 months of age, and without specific treatment, almost all will develop end-stage renal disease (ESRD) by 10-12 years of age...
December 19, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29205674/free-light-chain-associated-fanconi-syndrome-in-an-adolescent
#3
Ayaka Mori, Shojiro Watanabe, Kazushi Tsuruga, Kensuke Joh, Hiroshi Tanaka
No abstract text is available yet for this article.
December 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29199190/fanconi-syndrome-in-the-adulthood-the-role-of-early-diagnosis-and-treatment
#4
A Karatzas, D Paridis, D Kozyrakis, V Tzortzis, M Samarinas, Z Dailiana, T Karachalios
No abstract text is available yet for this article.
December 1, 2017: Journal of Musculoskeletal & Neuronal Interactions
https://www.readbyqxmd.com/read/29167218/concomitant-aids-cholangiopathy-and-fanconi-syndrome-as-complications-of-hiv-in-a-single-patient
#5
Robert Maweni, Jins Kallampallil, Szewai Leong, Srikanth Akunuri
We describe the case of a 50-year-old woman presenting to our acute medicine department with generalised non-specific symptoms on a background of HIV managed on triple therapy (tenofovir, lamivudine and zidovudine). On admission, she was noted to be acidotic with proteinuria, glycosuria, hypophosphataemia and generalised body pain, and was diagnosed with Fanconi's renotubular syndrome secondary to tenofovir. It was also noted that she had elevated liver dysfunction markers, and an MRI of the liver revealed a focal stricture near the ampulla of Vater, resulting in a diagnosis of AIDS cholangiopathy...
November 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29163953/hypokalemia-a-potentially-life-threatening-complication-of-tenofovir-therapy
#6
Abhilash Koratala, Rupam Ruchi
Tenofovir is a nucleotide analog reverse transcriptase inhibitor approved for the treatment of HIV and hepatitis B infections. It is widely prescribed and an integral part of the recommended regimens for the treatment of HIV infection in antiretroviral-naive patients. Tenofovir is implicated in renal proximal tubular dysfunction, which can be associated with Fanconi syndrome and hypokalemia. When the hypokalemia is severe, it can lead to life-threatening complications. We describe the case of a 59-year-old woman who suffered a cardiac arrest secondary to severe hypokalemia from tenofovir use...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29145330/pathologic-femoral-fracture-due-to-tenofovir-induced-fanconi-syndrome-in-patient-with-chronic-hepatitis-b-a-case-report
#7
You-Sung Suh, Dong-Il Chun, Sung-Woo Choi, Hwan-Woong Lee, Jae-Hwi Nho, Soon-Hyo Kwon, Jae-Ho Cho, Sung Hun Won
RATIONALE: We report a case of a hepatitis B virus (HBV)-positive patient with preexisting bone disease who developed tenofovir-induced Fanconi syndrome and subsequently sustained pathologic fracture. To our best knowledge, this is the first report in the English literature about pathologic femoral fracture due to tenofovir-induced Fanconi syndrome in patient with chronic hepatitis B (CHB). The present report describes detailed our experience with the diagnosis of pathologic femoral fracture due to tenofovir-induced Fanconi syndrome and treatment...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29116606/fanconi-syndrome-and-neonatal-diabetes-phenotypic-heterogeneity-in-patients-with-glut2-defects
#8
Priyanka Khandelwal, Aditi Sinha, Vandana Jain, Jayne Houghton, Pankaj Hari, Arvind Bagga
Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6  months of age...
November 8, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29114374/prevention-of-chemotherapy-induced-nephrotoxicity-in-children-with-cancer
#9
REVIEW
Fatemeh Ghane Sharbaf, Hamid Farhangi, Farahnak Assadi
Children with cancer treated with cytotoxic drugs are frequently at risk of developing renal dysfunction. The cytotoxic drugs that are widely used for cancer treatment in children are cisplatin (CPL), ifosfamide (IFO), carboplatin, and methotrexate (MTX). Mechanisms of anticancer drug-induced renal disorders are different and include acute kidney injury (AKI), tubulointerstitial disease, vascular damage, hemolytic uremic syndrome (HUS), and intrarenal obstruction. CPL nephrotoxicity is dose-related and is often demonstrated with hypomagnesemia, hypokalemia, and impaired renal function with rising serum creatinine and blood urea nitrogen levels...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#10
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29072386/-genetic-disorders-of-renal-phosphate-handling
#11
REVIEW
Daniella Magen
Hereditary disorders of renal phosphate handling comprise a diverse group of genetic diseases, usually characterized by excessive urinary phosphate wasting and a negative phosphate balance. In the minority of cases, perturbations of renal phosphate handling are associated with excessive urinary phosphate reabsorption, leading to pathological hyperphosphatemia. Inorganic phosphate is an essential mineral in the human body, playing a crucial role in cellular metabolism and skeletal mineralization. Whole body phosphate balance is maintained by a highly controlled equilibrium between intestinal uptake, skeletal deposition and renal excretion...
October 2017: Harefuah
https://www.readbyqxmd.com/read/29042903/renal-tubular-acidosis-in-patients-with-primary-sj%C3%A3-gren-s-syndrome
#12
Su Woong Jung, Eun Ji Park, Jin Sug Kim, Tae Won Lee, Chun Gyoo Ihm, Sang Ho Lee, Ju-Young Moon, Yang Gyun Kim, Kyung Hwan Jeong
Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys...
September 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29035194/clinicopathologic-characteristics-of-light-chain-proximal-tubulopathy-with-light-chain-inclusions-involving-multiple-renal-cell-types%C3%A2
#13
Xiaomei Li, Feng Xu, Dandan Liang, Shaoshan Liang, Xiaodong Zhu, Mingchao Zhang, Xianghua Huang, Zhihong Liu, Caihong Zeng
Light chain proximal tubulopathy (LCPT) associated with plasma cell dyscrasias is a rare abnormality, especially cases involving multiple cell types. The aim of this study is to explore the characteristics and outcomes of these diseases. We comprehensively evaluated the clinical-pathological data, treatment, and outcomes of 6 LCPT patients with involvement of multiple cell types. In 3 cases, we found that the inclusions largely existed in tubular cells, while in 2 cases they coexisted in podocytes and tubular cells, and in 1 case they coexisted in histiocytes and tubular cells...
October 16, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#14
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28983406/mutation-analysis-of-the-ctns-gene-in-iranian-patients-with-infantile-nephropathic-cystinosis-identification-of-two-novel-mutations
#15
Forough Sadeghipour, Mitra Basiratnia, Ali Derakhshan, Majid Fardaei
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin. Dysfunction in this protein leads to cystine accumulation in the cells of different organs. The accumulation of cystine in the kidneys becomes apparent with renal tubular Fanconi syndrome between 6 and 12 months of age and leads to renal failure in the first decade of life. The aim of this study was to analyze the CTNS mutations in 20 Iranian patients, from 20 unrelated families, all of whom were afflicted with infantile nephropathic cystinosis...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28950840/diagnostic-challenge-in-a-patient-with-nephropathic-juvenile-cystinosis-a-case-report
#16
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito
BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan. Most cystinosis is the nephropathic infantile form, as indicated by its apparent and severe clinical manifestations, including renal and ocular symptoms. Patients with the nephropathic juvenile form account for 5% of those with cystinosis...
September 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28940308/safety-and-pharmacokinetics-of-the-oral-iron-chelator-sp-420-in-%C3%AE-thalassemia
#17
Ali T Taher, Antoine N Saliba, Kevin H Kuo, Patricia J Giardina, Alan R Cohen, Ellis J Neufeld, Yesim Aydinok, Janet L Kwiatkowski, Brenda I Jeglinski, Keith Pietropaolo, Gregory Berk, Vip Viprakasit
Our phase I, open-label, multi-center, dose-escalation study evaluated the pharmacokinetics (PK) of SP-420, a tridentate oral iron chelating agent of the desferrithiocin class, in patients with transfusion dependent β-thalassemia. SP-420 was administered as a single dose of 1.5 (n = 3), 3 (n = 3), 6 (n = 3), 12 (n = 3), and 24 (n = 6) mg/kg or as a twice-daily dose of 9 mg/kg (n = 6) over 14-28 days. There was a near dose-linear increase in the mean plasma SP-420 concentrations and in the mean values for Cmax and AUC0-τ over the dose range evaluated...
December 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28937083/infantile-cystinosis-from-dialysis-to-renal-transplantation
#18
Manel Jellouli, Meriem Ferjani, Kamel Abidi, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of transplanted nephropathic cystinosis in a Tunisian child. A 4-year-old Tunisian boy born to nonconsanguineous parents, was treated in our medical services in 1990 for cystinosis. Since the age of five months, he developed symptoms of severe weight loss, vomiting, dehydration, and polyuria...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28870666/tenofovir-alafenamide-as-a-rescue-therapy-in-a-patient-with-hbv-cirrhosis-with-a-history-of-fanconi-syndrome-and-multidrug-resistance
#19
Glenda Grossi, Alessandro Loglio, Floriana Facchetti, Marta Borghi, Roberta Soffredini, Enrico Galmozzi, Giovanna Lunghi, Anuj Gaggar, Pietro Lampertico
Tenofovir disoproxil fumarate (TDF) is a recommended first-line therapy for both naïve and experienced patients with chronic hepatitis B (CHB), although reduced estimated glomerular filtration rate (eGFR), hypophosphatemia, hyperphosphaturia and Fanconi syndrome have been reported in some patients. Entecavir (ETV) could be considered as a rescue therapy for TDF-treated patients developing renal dysfunction, though patients with prior history of treatment with lamivudine (LAM) can develop ETV resistance strains, which can lead to potentially severe hepatitis flares...
September 21, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28859264/adefovir-induced-fanconi-syndrome-associated-with-osteomalacia
#20
Samel Park, Woo-Il Kim, Dai-Hyun Cho, Yeo-Joo Kim, Hong-Soo Kim, Ji-Hee Kim, Seung-Kuy Cha, Kyu-Sang Park, Ji-Hye Lee, Sang Mi Lee, Eun Young Lee
Fanconi syndrome is a dysfunction of the proximal renal tubules that results in impaired reabsorption and increased urinary loss of phosphate and other solutes. The pathophysiology of drug-induced Fanconi syndrome is unclear. Here we report the case of a 36-year-old woman who presented with pain in multiple bones and proteinuria. She had a 7-year history of taking adefovir at 10 mg/day for chronic hepatitis B. Three years previously she had received surgery for a nontraumatic right femur neck fracture, after which she continued to complain of pain in multiple bones, and proteinuria, glycosuria, and phosphaturia were noted...
September 1, 2017: Clinical and Molecular Hepatology
keyword
keyword
81736
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"