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"Fanconi's syndrome"

Rikako Hiramatsu, Yoshifumi Ubara, Naoki Sawa, Eiko Hasegawa, Masahiro Kawada, Aya Imafuku, Keiichi Sumida, Junichi Hoshino, Kenmei Takaichi
We performed a bone histomorphometric analysis in two patients demonstrating Fanconi syndrome with hypophosphatemia, adefovir-related bone disease and chronic hepatitis B infection. Both patients had osteomalacia, but showed two different histological patterns. The osteoid volume of the patient without risedronate increased with [(osteoid volume/ bone volume)×100=18.6%]. However, the osteoid volume of the patient receiving risedronate without vitamin D analogue showed a greater increase of 53.8%. In both patients bone pain and hypophosphatemia subsided soon after the discontinuation of adefovir and the administration of phosphate derivative...
2016: Internal Medicine
Narendran Krishnamoorthi, Christopher C Pais, Muralidhara Yadiyal B, Pradeep Kumar Shenoy, Riffat Abdulaziz
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
R Hofmann-Lehmann, N Wagmann, M L Meli, B Riond, M Novacco, D Joekel, F Gentilini, F Marsilio, M G Pennisi, A Lloret, T Carrapiço, F S Boretti
'Candidatus Neoehrlichia mikurensis' is an emerging tick-borne zoonotic agent that primarily affects immunocompromised human patients. Dogs and foxes are frequently exposed to ticks, and both species are in close proximity to humans. This is the first study to systematically investigate the occurrence of 'Candidatus Neoehrlichia mikurensis' in Canidae in Europa. We analyzed 1'739 blood samples from dogs in Switzerland, Italy, Spain and Portugal and 162 blood samples from free-ranging red foxes (Vulpes vulpes) in Switzerland...
October 2016: Schweizer Archiv Für Tierheilkunde
Michael Rudnicki, Johannes A Mayr, Johannes Zschocke, Herwig Antretter, Heinz Regele, René G Feichtinger, Martin Windpessl, Gert Mayer, Gerhard Pölzl
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA(Leu(UUR)). Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria...
September 24, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Shunsuke Goto, Hideki Fujii, Keiji Kono, Kentaro Watanabe, Kentaro Nakai, Shinichi Nishi
Fibroblast growth factor 23 (FGF23) is regulated by sustained phosphate supplementation and restriction. However, few studies have investigated FGF23 levels in patients with Fanconi syndrome. Therefore, we evaluated intact and C-terminal FGF23 and FGF23-associated parameters in four patients with Fanconi syndrome. Serum intact and C-terminal FGF23 levels were extremely low. Although serum phosphate and 1,25-dihydroxyvitamin D levels improved to or above the normal range within 1 year of treatment with oral phosphate and calcitriol, serum FGF23 levels remained low...
October 2016: Clinical Kidney Journal
Marcela Zúñiga, Armando Galindo, María Isabel Galaz, Maritza Vivanco, Patricio Romero, Paulina Balboa, Claudia Torrejón
INTRODUCTION: Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. OBJECTIVE: To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF. CLINICAL CASE: We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment...
September 9, 2016: Revista Chilena de Pediatría
Ghasem Miri-Aliabad, Maryam Sadat-Hosseini, Akbar Dorgalaleh
Fanconi syndrome is a metabolic disorder involving dysfunction of the renal proximal tubules, resulting in excessive urinary excretion of several metabolites. Various factors may lead to Fanconi syndrome, as it may be a genetic disease with primary or secondary etiologies, or may be acquired. In this study, we report a unique case of Fanconi syndrome with development of a relatively rare acute leukemia, a condition that has not been reported before. The case was an 8-year-old boy with familial occurrence of Fanconi syndrome, presenting with pallor, asthenia, recurrent infections, growth failure, and a variety of biochemical and hematological abnormalities...
June 2016: Iranian Journal of Pediatrics
Sukhdeep Bhogal
No abstract text is available yet for this article.
August 29, 2016: American Journal of Therapeutics
Beatriz López Centeno, Roberto Collado Borrell, Montserrat Pérez Encinas, Maria Luisa Gutiérrez García, Patricia Sanmartin Fenollera
OBJECTIVE: To compare the effectiveness and renal safety of treatment with tenofovir versus entecavir in patients with chronic hepatitis-B. METHODS: Retrospective study in hepatitis-B patients who initiated treatment with tenofovir or entecavir since January 1998 until 2013. The primary effectiveness variable was defined as viral DNA < 20 UI/ml (HBV-DNA) and the variable for renal safety was variations in glomerular filtration rate (eGFR) after 48 weeks of treatment...
June 1, 2016: Farmacia Hospitalaria
Ossama M Maher, Hatel R Moonat
No abstract text is available yet for this article.
October 2016: Journal of Pediatric Hematology/oncology
Josef Finsterer, Lässer Stefan
Malingering and factitious disorder (Münchausen-syndrome) has not been reported as a manifestation of a mitochondrial-disorder (MID). Here, we report a 46 years-old female with a MID due to a combined complex I-IV defect, manifesting in the cerebrum, muscle, bone marrow, kidneys, and the endocrine glands. Myopathy showed up as myalgia, easy fatigability, ptosis, and abnormal muscle biopsy. Endocrine involvement manifested as short stature and thyroid dysfunction. Involvement of the kidneys manifested as mild Fanconi syndrome...
July 2016: Indian Journal of Psychological Medicine
Mona Doshi, Amit Lahoti, Farhad R Danesh, Vecihi Batuman, Paul W Sanders
Disorders of plasma and B cells leading to paraproteinemias are associated with a variety of renal diseases. Understanding the mechanisms of injury and associated nephropathies provides a framework that aids clinicians in prompt diagnosis and appropriate adjunctive treatment of these disorders. Glomerular diseases that may be associated with paraproteinemias include amyloid deposition, monoclonal Ig deposition disease, proliferative GN with monoclonal Ig deposits, C3 glomerulopathy caused by alterations in the complement pathway, immunotactoid glomerulopathy, fibrillary GN, and cryoglobulinemia...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Mitchell H Rosner, Amaka Edeani, Motoko Yanagita, Ilya G Glezerman, Nelson Leung
Paraprotein-related kidney disease represents a complex group of diseases caused by an abnormal paraprotein secreted by a clone of B cells. The disease manifestations range from tubulopathies, such as the Fanconi syndrome, to a spectrum of glomerular diseases that can present with varying degrees of proteinuria and renal dysfunction. Diagnosis of these diseases can be challenging because of the wide range of manifestations as well as the relatively common finding of a serum paraprotein, especially in elderly patients...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
R Jayasurya, B H Srinivas, M Ponraj, S Haridasan, S Parameswaran, P S Priyamvada
Ifosfamide (IFO), an alkylating agent used for the management of solid organ tumors, can cause reversible Fanconi's syndrome and acute kidney injury. Karyomegalic interstitial nephropathy (KIN) is a rare form of chronic tubulointerstitial nephritis, initially described as a familial nephropathy in adults. So far, four cases of KIN have been reported in pediatric and adolescent population following treatment with IFO. We report a 22-year-old man who developed renal dysfunction following IFO therapy for relapsed Hodgkin's lymphoma...
July 2016: Indian Journal of Nephrology
Archie Ramaswami, Danya J Rosen, Jaime Chu, Birte Wistinghausen, Ronen Arnon
Deferesirox (DFX), an oral chelating agent, is used to treat chronic iron overload in several hematological diseases such as β-thalassemia, sickle cell disease, and myelodysplastic anemia. DFX is generally well tolerated with the exception of gastrointestinal disturbances and rash, although cases of renal toxicity, as well as acute and chronic liver failure, have been reported in adults and children. Here we describe a 3-year-old girl with β-thalassemia undergoing treatment with DFX who presented with acute liver failure and Fanconi's syndrome...
July 29, 2016: Journal of Pediatric Hematology/oncology
Hana Hartmannová, Lenka Piherová, Kateřina Tauchmannová, Kendrah Kidd, Philip D Acott, John F S Crocker, Youcef Oussedik, Marcel Mallet, Kateřina Hodaňová, Viktor Stránecký, Anna Přistoupilová, Veronika Barešová, Ivana Jedličková, Martina Živná, Jana Sovová, Helena Hůlková, Vicki Robins, Marek Vrbacký, Petr Pecina, Vilma Kaplanová, Josef Houštěk, Tomáš Mráček, Yves Thibeault, Anthony J Bleyer, Stanislav Kmoch
The Acadian variant of Fanconi Syndrome refers to a specific condition characterized by generalized proximal tubular dysfunction from birth, slowly progressive chronic kidney disease and pulmonary interstitial fibrosis. This condition occurs only in Acadians, a founder population in Nova Scotia, Canada. The genetic and molecular basis of this disease is unknown. We carried out whole exome and genome sequencing and found that nine affected individuals were homozygous for the ultra-rare non-coding variant chr8:96046914 T > C; rs575462405, whereas 13 healthy siblings were either heterozygotes or lacked the mutant allele...
July 27, 2016: Human Molecular Genetics
M Vignon, V Javaugue, M P Alexander, K El-Karoui, A Karras, D Roos-Weil, B Royer, B Asli, B Knebelmann, G Touchard, A Jaccard, B Arnulf, F Bridoux, N Leung, J P Fermand
We retrospectively reviewed 49 patients with light-chain (LC) Fanconi syndrome. Patients presented with chronic kidney disease (median estimated glomerular filtration rate (eGFR) of 33 ml/min/m2) and tubular proteinuria. All patients tested had elevated fractional excretion of phosphate, uric acid, generalized aminoaciduria and/or normoglycemic glycosuria. Thirty-eight patients had monoclonal gammopathy of renal significance and 11 patients had an overt hematological malignancy. The monoclonal LC isotype was kappa in 46/49 cases...
July 20, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Syed Ahsan Ali, Muhammad Tariq
Proximal renal tubular acidosis (RTA), also known as Type II RTA, is characterized by a defect in the ability to reabsorb bicarbonate (HCO 3 ) in the proximal tubule. It is usually associated with generalized dysfunction of the proximal tubule as part of Fanconi syndrome. Very few case reports in the literature support Vitamin D deficiency as a cause of proximal RTA. We present a case of a young female who presented with proximal RTA and Fanconi syndrome and excellently responded to Vitamin D replacement. Thus, work-up for the etiology of proximal RTA should include Vitamin D levels since replacement of this vitamin in those who are deficient can lead to cure of such patients...
July 2016: Saudi Journal of Kidney Diseases and Transplantation
Bouchra Lify, G Dabo, O Nascimento, S Iraqui, S Elkhayat, M Zamd, G Medkouri, M Benghanem, B Ramdani, M M Sodqi, L Marih, A Chakib, K El FilaliMarhoum
Tenofovir disoproxil fumarate (TDF) is a nucleotide reverse transcriptase inhibitor discovered in the USA in 2001. It is currently the treatment of choice for patients co-infected with human immunodeficiency virus (HIV) and hepatitis B virus. Its antiretroviral efficacy and good tolerance are responsible for the higher frequency of prescriptions compared with other nucleoside analogs. However, it can induce acute renal toxicity causing impairment of the proximal tubular function of the kidney. This is highly dependent on factors such as associated co-prescription didanosine or a protease inhibitor "boosted" with ritonavir, preexisting renal insufficiency, low body weight, or presence of associated diabetes...
July 2016: Saudi Journal of Kidney Diseases and Transplantation
Mohit Mathur, Bobby Chacko, Mahesha Vankalakunti, Channappa Patil
Fanconi syndrome (FS) in an adult patient is an unusual finding and it merits thorough evaluation. Paraproteinemias are one of the common etiologies in adult FS and need to be ruled out. Among the various forms of renal involvement in multiple myeloma, light chain proximal tubulopathy (LCPT) is the rarest. Usually, it causes proximal tubular dysfunction which is characterized by intracytoplasmic deposition of crystallized, mostly kappa monoclonal light chains in proximal tubules; however, glomerular crystal deposition is unusual...
July 2016: Saudi Journal of Kidney Diseases and Transplantation
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