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"Fanconi's syndrome"

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https://www.readbyqxmd.com/read/29145330/pathologic-femoral-fracture-due-to-tenofovir-induced-fanconi-syndrome-in-patient-with-chronic-hepatitis-b-a-case-report
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28855492/multiple-pseudofractures-due-to-fanconi-s-syndrome-associated-with-wilson-s-disease
#15
Mai Tsuchiya, Ryusuke Takaki, Fumikazu Kobayashi, Takamura Nagasaka, Kazumasa Shindo, Yoshihisa Takiyama
We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs...
September 30, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28851305/nephrolithiasis-and-osteomalacia-associated-with-adefovir-induced-fanconi-syndrome-in-a-patient-with-hepatitis-b
#16
Jueying Lin, Yufeng Zhuo, Dongdong Zhang
BACKGROUND: An increasing number of case reports suggest that acquired renal Fanconi syndrome may be associated with prolonged use of adefovir against hepatitis B virus. Renal Fanconi syndrome is an uncommon disease, and its complication with nephrolithiasis is quite rare. Herein, we report a rare coexistence of nephrolithiasis and acquired renal Fanconi syndrome in a chronic hepatitis B-positive patient with prolonged adefovir therapy. CASE PRESENTATION: The patient presented with osteomalacia and nephrolithiasis...
August 29, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28794148/tubulointerstitial-nephritis-with-igm-positive-plasma-cells
#17
Naoki Takahashi, Takako Saeki, Atsushi Komatsuda, Chishio Munemura, Takeaki Fukui, Naofumi Imai, Noriyuki Homma, Tsuguru Hatta, Ken-Ichi Samejima, Takashi Fujimoto, Hiroki Omori, Yumi Ito, Yudai Nishikawa, Mamiko Kobayashi, Yukie Morikawa, Sachiko Fukushima, Seiji Yokoi, Daisuke Mikami, Kenji Kasuno, Hideki Kimura, Tomoyuki Nemoto, Yasunari Nakamoto, Kiyonao Sada, Manabu Sugai, Hironobu Naiki, Haruyoshi Yoshida, Ichiei Narita, Yoshihiko Saito, Masayuki Iwano
Infiltration by IgG-positive plasma cells is a common finding in tubulointerstitial nephritis. Indeed, it has been thought that CD138-positive mature plasma cells secrete mainly IgG, and the occurrence of tubulointerstitial nephritis with CD138-positive plasma cells secreting IgM has rarely been reported. Routine immunofluorescence of fresh frozen sections is considered the gold standard for detection of immune deposits. However, the immunoenzyme method with formalin-fixed, paraffin-embedded sections is superior for detecting IgM- or IgG-positive cells within the renal interstitium, thus histologic variants may often go undetected...
August 9, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28764611/incidence-of-renal-fanconi-syndrome-in-patients-taking-antiretroviral-therapy-including-tenofovir-disoproxil-fumarate
#18
Nicholas A Medland, Eric Pf Chow, Rowan G Walker, Marcus Chen, Tim Rh Read, Christopher K Fairley
The objective of this study was to determine the incidence and predictors of Fanconi Syndrome (FS) in a cohort of patients taking tenofovir disoproxil fumarate (TDF). Clinical records and laboratory investigations from patients receiving TDF between 2002 and 2016 were extracted. FS was defined as normoglycaemic glycosuria and proteinuria and at least one other marker of renal dysfunction. Regression analysis was performed with time to development of FS and the following covariates: ritonavir co-administration, age, gender, co-morbidities (hypertension, hyperlipidaemia, diabetes, viral hepatitis), CD4 cell count nadir and baseline eGFR...
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28761231/renal-manifestations-in-paroxysmal-nocturnal-hemoglobinuria
#19
R Ram, K P Adiraju, S Gudithi, K V Dakshinamurty
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic disorder characterized by a triad of clinical features - hemolytic anemia, pancytopenia, and thrombosis. Not many reports of renal involvement in PNH are available in literature. We present a case series of PNH with renal involvement. We present the data of PNH patients who attended to Departments of General Medicine and Nephrology at a government-run tertiary care institute in South India. The diagnosis of PNH in these patients during initial phase, between 1998 and 2004 was based on sucrose lysis and Ham's test...
July 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28755187/ntbc-and-correction-of-renal-dysfunction
#20
Arianna Maiorana, Carlo Dionisi-Vici
Hereditary tyrosinemia type 1 (HT1) is characterized by severe progressive liver disease and renal tubular dysfunction. Kidney involvement is characterized by hypophosphatemic rickets and Fanconi syndrome. Different animal models were useful to investigate the pathophysiology of the disease and the effects of NTBC therapy on liver and kidney function. NTBC has revolutionized the prognosis of HT1 and its acute and chronic effects on renal tubular function have been proved, with normalization of tubular function within a few weeks, particularly hypophosphatemia and proteinuria...
2017: Advances in Experimental Medicine and Biology
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