Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2016.5169
Abstract: An adolescent girl presented with decreased vision and mild nystagmus since childhood. Best-corrected visual acuity was 20/40 OD and 20/100 OS. She had a history of infantile cystinosis with resulting Fanconi syndrome and renal failure… read more here.
Keywords: nephopathic cystinosis; cystinosis fanconi; crystals nephopathic; intraretinal crystals ... See more keywords
Transient Fanconi Syndrome in a Child with Acute COVID-19 Infection
Sign Up to like & getrecommendations! Published in 2021 at "Indian Journal of Pediatrics"
DOI: 10.1007/s12098-021-03890-7
Abstract: A 5-y-old female with COVID-19 infection, presented in shock with nonanion gap metabolic acidosis, polyuria, very low bicarbonate, potassium and phosphate, non-nephrotic range proteinuria, glucosuria, elevated beta-2 microglobulin in urine, and urinary phosphate loss, confirming… read more here.
Keywords: transient fanconi; acute; microscopy; covid infection ... See more keywords
Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2022.03.001
Abstract: BACKGROUND Fanconi syndrome (FS) can be of primary or secondary origin. Some cases of FS secondary to the use of sodium valproate (VPA) have been described, mostly in children with severe psychomotor retardation who are… read more here.
Keywords: psychomotor retardation; severe psychomotor; fanconi syndrome; sodium valproate ... See more keywords
[Tenofovir-associated Fanconi`s syndrome and rickets in a HIV infected girl].
Sign Up to like & getrecommendations! Published in 2017 at "Revista chilena de pediatria"
DOI: 10.1016/j.rchipe.2016.08.001
Abstract: 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… read more here.
Keywords: tenofovir associated; fanconi syndrome; associated fanconi; infected girl ... See more keywords
Fanconi syndrome in a patient receiving pre-exposure prophylaxis for HIV infection: case report.
Sign Up to like & getrecommendations! Published in 2022 at "Sexual health"
DOI: 10.1071/sh21185
Abstract: BACKGROUND Tenofovir disoproxil is efficacious in the preventing HIV infection as part of a pre-exposure prophylaxis (PrEP) regimen. Although its use has been associated with impaired renal function, instances of Fanconi syndrome are extremely rare.… read more here.
Keywords: exposure prophylaxis; fanconi syndrome; patient; pre exposure ... See more keywords
Partial Fanconi syndrome induced by ifosfamide
Sign Up to like & getrecommendations! Published in 2019 at "Baylor University Medical Center Proceedings"
DOI: 10.1080/08998280.2018.1536020
Abstract: Abstract Ifosfamide-induced proximal tubular nephropathy can present as a spectrum of disease, from isolated hyperaminoaciduria to a partial or complete Fanconi syndrome. We report a case of ifosfamide-induced partial Fanconi syndrome in a man with… read more here.
Keywords: partial fanconi; induced ifosfamide; syndrome induced; fanconi syndrome ... See more keywords
Deferasirox – a rarer cause of Fanconi syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Community Hospital Internal Medicine Perspectives"
DOI: 10.1080/20009666.2019.1650592
Abstract: ABSTRACT Deferasirox is a recently approved iron chelator and is widely used to treat iron overload in transfusion-dependent patients. Its once-daily dosing and oral route of administration have made it an appealing alternative to deferoxamine.… read more here.
Keywords: rarer cause; cause fanconi; deferasirox rarer; deferasirox ... See more keywords
Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2017.1259560
Abstract: ABSTRACT Introduction: Renal Fanconi syndrome describes a general dysfunction of the proximal tubules characterized by urinary losses of water, electrolytes, low-molecular weight proteins, aminoacids and glucose. The heterogeneity of its underlying causes has complicated the… read more here.
Keywords: current treatments; renal fanconi; fanconi syndrome; pathophysiology current ... See more keywords
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14235
Abstract: Renal Fanconi syndrome (RFS) is a generalised disorder of the proximal convoluted tubule. Many genes have been associated with RFS including those that cause systemic disorders such as cystinosis, as well as isolated RFS. We… read more here.
Keywords: gatm; renal fanconi; novel variant; kidney ... See more keywords
Retrospective analysis of the clinical characteristics of adefovir dipivoxil–induced Fanconi’s syndrome in the Chinese population
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Pharmacy and Therapeutics"
DOI: 10.1111/jcpt.13154
Abstract: To explore the clinical characteristics of adefovir dipivoxil–induced Fanconi's syndrome in the Chinese population and provide a reference for rational drug use in the clinic. read more here.
Keywords: dipivoxil induced; characteristics adefovir; adefovir dipivoxil; clinical characteristics ... See more keywords
Combined Alport syndrome, Klinefelter syndrome and Fanconi syndrome in a Chinese boy
Sign Up to like & getrecommendations! Published in 2023 at "Nephrology"
DOI: 10.1111/nep.14152
Abstract: Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X‐linked dominant (XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in COL4A5… read more here.
Keywords: klinefelter syndrome; alport syndrome; chinese boy; fanconi syndrome ... See more keywords