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"Fanconi's syndrome"

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https://www.readbyqxmd.com/read/28693455/fainting-fanconi-syndrome-clarified-by-proxy-a-case-report
#1
Stephen Benedict Walsh, Robert Unwin, Robert Kleta, William Van't Hoff, Paul Bass, Khalid Hussain, Sian Ellard, Detlef Bockenhauer
BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. CASE PRESENTATION: We report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy...
July 11, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28689437/the-effect-of-antiepileptic-drugs-on-the-kidney-function-and-structure
#2
S Hamed
Abtract Introduction: Long-term use of antiepileptic drugs (AEDs) is associated with number of somatic conditions. Data from experimental, cross-sectional and prospective studies have evidence for the deleterious effect of some AEDs on the kidney. Areas Covered: This review summarized the current knowledge of the effect of AEDs on the kidney including evidence and mechanisms. Fanconi syndrome was reported with valproate (VPA) therapy in severely disabled children with epilepsy. Renal tubular acidosis and urolithiasis were reported with acetazolamide, topirmate and zonisamide, drugs with carbonic anhydrase inhibition properties...
July 10, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28672949/long-term-adefovir-therapy-may-induce-fanconi-syndrome-a-report-of-four-cases
#3
Fan Pan, Yingchao Wang, Xin Zhang, Qingfeng Lin, Xiaolong Liu, Yi Jiang, Chen Pan
Fanconi syndrome is a rare disease characterized by dysfunction of the proximal renal tubules as a result of various pathogenic events. Drug-induced Fanconi syndrome may be neglected or misdiagnosed, which increases the level of suffering. The aim of the present study was to conduct an investigation into the effects of adefovir (ADV)-induced Fanconi syndrome. Four typical cases of Fanconi syndrome caused by long-term ADV therapy (2-9 years) were diagnosed at our hospital. A complete medical and therapy history was collected from all four patients prior to a physical examination...
July 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28669993/the-5-phosphatase-ocrl-in-lowe-syndrome-and-dent-disease-2
#4
REVIEW
Maria Antonietta De Matteis, Leopoldo Staiano, Francesco Emma, Olivier Devuyst
Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by mutations in OCRL, which encodes an inositol polyphosphate 5-phosphatase (OCRL) that acts on phosphoinositides - quantitatively minor constituents of cell membranes that are nonetheless pivotal regulators of intracellular trafficking. In this Review we summarize the considerable progress made over the past decade in understanding the cellular roles of OCRL in regulating phosphoinositide balance along the endolysosomal pathway, a fundamental system for the reabsorption of proteins and solutes by proximal tubular cells...
August 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28638260/infantile-nephropathic-cystinosis-a-novel-ctns-mutation
#5
Hakan Doneray, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel CTNS mutation.
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28577739/mitochondrial-cytopathies-and-the-kidney
#6
REVIEW
Francesco Emma, Leonardo Salviati
Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is probably more frequent than originally suspected but remains subclinical in a significant number of patients or is underestimated due to the severity of other clinical manifestations. Until recently, these diseases were thought to develop primarily in pediatric patients but patients that become symptomatic only in adulthood are now well recognized...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28577559/ectopic-germinal-center-and-megalin-defect-in-primary-sjogren-syndrome-with-renal-fanconi-syndrome
#7
Jing Wang, Yubing Wen, Mengyu Zhou, Xiaoxiao Shi, Lanping Jiang, Mingxi Li, Yang Yu, Xuemei Li, Xuewang Li, Wen Zhang, Andrew L Lundquist, Limeng Chen
BACKGROUND: This study reports the clinical and pathological features of 12 cases of primary Sjogren syndrome (pSS) with renal involvement presenting with proximal tubular dysfunction in a single center, and investigates the possible correlation of ectopic germinal center formation and megalin/cubilin down-expression. METHOD: Clinical and pathological records were reviewed. Immunohistochemistry was carried out to detect megalin, cubilin, CD21 and IL-17 expression...
June 2, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28577018/a-case-of-kidney-involvement-in-primary-sj%C3%A3-gren-s-syndrome
#8
Farid Arman, Hania Shakeri, Niloofar Nobakht, Anjay Rastogi, Mohammad Kamgar
BACKGROUND Sjögren's syndrome is an autoimmune disorder caused by the infiltration of monocytes in epithelial glandular and extra-glandular tissues. Hallmark presentations include mouth and eye dryness. Although renal involvement is uncommon in primary Sjögren's syndrome (pSS), patients may experience renal tubular acidosis type I (RTA I), tubulointerstitial nephritis, diabetes insipidus (DI), nephrolithiasis, and Fanconi syndrome. However, it is atypical to see more than 1 of these manifestations in a single patient...
June 3, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28573057/cisplatin-induced-renal-salt-wasting-requiring-over-12-liters-of-3-saline-replacement
#9
Phuong-Chi Pham, Pavani Reddy, Shaker Qaqish, Ashvin Kamath, Johana Rodriguez, David Bolos, Martina Zalom, Phuong-Thu Pham
Cisplatin is known to induce Fanconi syndrome and renal salt wasting (RSW). RSW typically only requires transient normal saline (NS) support. We report a severe RSW case that required 12 liters of 3% saline. A 57-year-old woman with limited stage small cell cancer was admitted for cisplatin (80 mg/m(2)) and etoposide (100 mg/m(2)) therapy. Patient's serum sodium (SNa) decreased from 138 to 133 and 125 mEq/L within 24 and 48 hours of cisplatin therapy, respectively. A diagnosis of syndrome of inappropriate antidiuretic hormone secretion (SIADH) was initially made...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28556939/a-case-of-fanconi-syndrome-due-to-a-deferasirox-overdose-and-a-trial-of-plasmapheresis
#10
L Shah, J L Powell, J J Zaritsky
WHAT IS KNOWN AND OBJECTIVE: Deferasirox has nephrotoxic effects in the context of chronic therapy. This case report illustrates proximal tubular dysfunction (Fanconi syndrome) due to an acute deferasirox overdose. CASE DESCRIPTION: In response, we trialled plasmapheresis to eliminate the drug. Deferasirox levels were obtained in the context of three rounds of plasmapheresis. Given the half-life model of decay, we concluded that plasmapheresis may not have been successful...
May 29, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28527242/-small-cell-lung-cancer-associated-with-multiple-paraneoplastic-syndromes
#11
Diana L Franco, Leslie Thomas
We report the case of a patient presenting with multiple severe electrolyte disturbances who was subsequently found to have small cell lung cancer. Upon further evaluation, she demonstrated three distinct paraneoplastic processes, including the syndrome of inappropriate antidiuretic hormone, Fanconi syndrome, and an inappropriate elevation in fibroblast growth factor-23 (FGF23). The patient underwent one round of chemotherapy, but she was found to have progressive disease. After 36 days of hospitalization, the patient made the decision to enter hospice care and later she expired...
January 24, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#12
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28509132/transient-fanconi-syndrome-in-two-preterm-infants-with-hydronephrosis-and-urinary-tract-infection
#13
Takahiro Tominaga, Takeshi Sato, Yosuke Ichihashi, Naoko Amano, Yasuaki Kobayashi, Midori Awazu
Type IV renal tubular acidosis is known to occur in obstructive uropathy with urinary tract infection. Fanconi syndrome, however, has not been described in these settings. We report two preterm infants who developed Fanconi syndrome associated with hydronephrosis and urinary tract infection. Patient 1 is a boy with 21 trisomy, bilateral renal hypoplasia and bilateral vesicoureteral reflux delivered at 35 weeks' gestation. At postnatal day 42, he developed Fanconi syndrome after urinary tract infection, which persisted until the surgical correction of vesicoureteral reflux...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28509131/growth-hormone-therapy-for-a-patient-with-idiopathic-fanconi-syndrome-and-growth-hormone-deficiency
#14
Takayuki Okamoto, Yasuyuki Sato, Takeshi Yamazaki, Asako Hayashi, Toshiyuki Takahashi
Idiopathic Fanconi syndrome (FS) is characterized by a generalized dysfunction of the renal proximal tubules. Patients with FS often exhibit growth retardation due to complex factors, such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism and hypokalemia. To date, one FS patient has been reported to exhibit growth failure due to growth hormone deficiency (GHD), but the long-term clinical course of recombinant human GH (rhGH) therapy has not been reported. At 10 months of age, the patient was admitted to our hospital due to growth failure...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28508985/light-chain-fanconi-syndrome-in-a-patient-with-acute-myeloid-leukemia-and-monoclonal-gammopathy-of-undetermined-significance
#15
Daniel W Ross, Rimda Wanchoo, Adriana Guigova, Cristina Ghiuzeli, Steven L Allen, Kenar D Jhaveri
Proximal tubules are a target for paraproteinemic diseases. Cast nephropathy, light chain deposition diseases, and amyloidosis are frequently encountered in patients with multiple myeloma. Rarely, a subset of patients develop light chain Fanconi syndrome (LCFS). LCFS has been reported with multiple myeloma, monoclonal gammopathy of renal significance (MGRS), chronic lymphocytic leukemia, Waldenstrom's macroglobulinemia and diffuse large B-cell lymphoma. No cases have been described with other hematologic malignancies...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28497274/endocytic-receptor-lrp2-megalin-of-holoprosencephaly-and-renal-fanconi-syndrome
#16
REVIEW
Thomas E Willnow, Annabel Christ
Megalin (or LRP2) is an endocytic receptor that plays a central role in embryonic development and adult tissue homeostasis. Loss of this receptor in congenital or acquired diseases results in multiple organ dysfunctions, including forebrain malformation (holoprosencephaly) and renal reabsorption defects (renal Fanconi syndrome). Here, we describe current concepts of the mode of receptor action that include co-receptors and a repertoire of different ligands, and we discuss how these interactions govern functional integrity of the kidney and the brain, and cause disease when defective...
May 11, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28476317/evolution-structure-and-membrane-association-of-ndufaf6-an-assembly-factor-for-nadh-ubiquinone-oxidoreductase-complex-i
#17
Bernard D Lemire
The NADH:ubiquinone oxidoreductase (complex I) is the largest member of the mitochondrial respiratory chain. Its FMN cofactor accepts two electrons from NADH and transfers them to ubiquinone via a chain of iron-sulphur centers. A central core of 14 highly conserved subunits can couple electron transfer to proton translocation. The mammalian enzyme has an additional ~30 accessory subunits. Complex I has important bioenergetic and metabolic functions and is a known source of reactive oxygen species; these functions link it to a number of hereditary and degenerative diseases...
July 2017: Mitochondrion
https://www.readbyqxmd.com/read/28458902/hyperinsulinaemic-hypoglycaemia-renal-fanconi-syndrome-and-liver-disease-due-to-a-mutation-in-the-hnf4a-gene
#18
María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, Diego Yeste
SUMMARY: HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported. LEARNING POINTS: Urine specimen study in cases of HHI with diazoxide response is necessary to rule out specific metabolic conditions (l-3-hydroxyacyl-coenzyme A dehydrogenase deficiency) or tubular renal involvement...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28403627/short-communication-resolution-of-tenofovir-disoproxil-fumarate-induced-fanconi-syndrome-with-switch-to-tenofovir-alafenamide-fumarate-in-a-hiv-1-and-hepatitis-b-coinfected-patient
#19
Maile Young Karris
Fanconi syndrome is a rare adverse effect of tenofovir disoproxil fumarate (TDF). Tenofovir alafenamide fumarate (TAF) is a novel prodrug with less nephrotoxicity. We report resolution of Fanconi syndrome in a HIV and hepatitis B coinfected patient switched from TDF to TAF.
July 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28391286/basal-ganglia-calcification-with-tetanic-seizure-suggest-mitochondrial-disorder
#20
Josef Finsterer, Barbara Enzelsberger, Adam Bastowansky
BACKGROUND Basal ganglia calcification (BGC) is a rare sporadic or hereditary central nervous system (CNS) abnormality, characterized by symmetric or asymmetric calcification of the basal ganglia. CASE REPORT We report the case of a 65-year-old Gypsy female who was admitted for a tetanic seizure, and who had a history of polyneuropathy, restless-leg syndrome, retinopathy, diabetes, hyperlipidemia, osteoporosis with consecutive hyperkyphosis, cervicalgia, lumbalgia, struma nodosa requiring thyroidectomy and consecutive hypothyroidism, adipositas, resection of a vocal chord polyp, arterial hypertension, coronary heart disease, atheromatosis of the aorta, peripheral artery disease, chronic obstructive pulmonary disease, steatosis hepatis, mild renal insufficiency, long-term hypocalcemia, hyperphosphatemia, impingement syndrome, spondylarthrosis of the lumbar spine, and hysterectomy...
April 9, 2017: American Journal of Case Reports
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