Results 31 to 40 of about 1,177,821 (205)

A CASE OF FANCONI SYNDROME

open access: yesNihon Naika Gakkai Zasshi, 1965
先天的腎尿細管再吸収障害または後天的腎炎疾患により,腎性糖尿,蛋白尿,アミノ酸尿,骨軟化症,血清Ca, P低下などの症状を呈するFanconi症候群成人型は今日まで31例報告されているが,本邦においては僅かに1例報告されているに過ぎない。われわれは潜在していたと思われる腎尿細管機能異常が腎切験後の吸収乃至代謝障害が加わることにより急激に顕症化したと考えられるFanconi症候群成人型の1例を報告する.患者は47オの男で,蛋白尿と,糖尿を指摘されていたが,十二指腸潰瘍で胃切除を受けた.術後全身倦怠感,下肢の脱力感および関節痛による歩行障害が現われ,漸次増強し入院.腎性糖尿,蛋白尿,アミノ酸尿,血清P, Ca低下, Cl増加,尿中電解質排泄増加,動脈血CO2含量減少,アルカリフォスファターゼ(al-P ...
AMARI, Masaya   +2 more
openaire   +2 more sources

Tenofovir-induced Fanconi syndrome in a patient with chronic hepatitis B monoinfection

open access: yesAnnals of Hepatology, 2016
Tenofovir disoproxil fumarate (TDF) is a nucleotide reverse transcriptase inhibitor indicated for treatment of patients with chronic hepatitis B virus (CHB) and human immunodeficiency virus (HIV) infections.
Fabio Conti   +4 more
doaj   +1 more source

Proximal Tubulopathy With Fibrillary Inclusions: A Rare Manifestation of Lymphoma-Associated Monoclonal Gammopathy of Renal Significance (MGRS)

open access: yesKidney Medicine, 2019
Light chain proximal tubulopathy is a rare M-proteinemia–related nephropathy. The inclusions, composed of light chains in light chain proximal tubulopathy, are generally crystalline, and most exhibit a rhombic shape.
Ayami Ino   +8 more
doaj   +1 more source

Growth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report

open access: yesChildren, 2021
Fanconi syndrome is one of the primary renal manifestations of mitochondrial cytopathies caused by mitochondrial DNA (mtDNA) mutation. The common 4977-bp mtDNA deletion has been reported to be associated with aging and diseases involving multiple ...
Ting Li   +5 more
doaj   +1 more source

Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients [PDF]

open access: yes, 2012
© 2012 Joksic et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium ...
Marija Guc-Scekic   +35 more
core   +1 more source

Acquired Fanconi Syndrome from Tenofovir Treatment in a Patient with Hepatitis B

open access: yesCase Reports in Hepatology, 2023
Fanconi syndrome is a rare disease of generalized proximal tubule dysfunction which can be acquired secondary to certain medications, including tenofovir, a commonly used hepatitis B treatment.
Shirley X. Jiang   +2 more
doaj   +1 more source

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

open access: yesCell Reports, 2016
Summary: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH.
Nadine Assmann   +13 more
doaj   +1 more source

Bcr/Abl Interferes with the Fanconi Anemia/BRCA Pathway: Implications in the Chromosomal Instability of Chronic Myeloid Leukemia Cells [PDF]

open access: yes, 2010
Chronic myeloid leukemia (CML) is a malignant clonal disorder of the hematopoietic system caused by the expression of the BCR/ABL fusion oncogene. Although it is well known that CML cells are genetically unstable, the mechanisms accounting for this ...
Valeri, Antonio   +71 more
core   +2 more sources

Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats. [PDF]

open access: yes, 2014
Acquired Fanconi syndrome is characterized by inappropriate urinary loss of amino acids, bicarbonate, electrolytes, and water. It has recently been described in dogs fed chicken jerky treats from China, a new differential diagnosis to the classical ...
Francey, Thierry   +3 more
core   +1 more source

Resolution of proximal tubular dysfunction after liver transplantation in ATP8B1 deficiency: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Progressive familial intrahepatic cholestasis type 1 (PFIC1), caused by ATP8B1 deficiency, is a multisystem disorder with extrahepatic manifestations; however, renal involvement has rarely been described. We report a child with genetically confirmed PFIC1 who underwent living donor liver transplantation (LT) for progressive liver disease ...
Angela Marino   +3 more
wiley   +1 more source

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