Case of presymptomatic aceruloplasminemia treated with deferasirox

Tai, Mayumi; Matsuhashi, Nobuo; Ichii, Osamu; Suzuki, Tomohiro; Ejiri, Yutaka; Kono, Satoshi; Terada, Tatsuhiro; Miyajima, Hiroaki; Harada, Masaru

doi:10.1111/hepr.12292

Cited by 29 publications

(21 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most cases originated from Japan; the geographic distribution of the cases is shown in Figure . Data on treatment and follow‐up were available in 28 original case descriptions, with follow‐up ranging from 1 week to 6 years . In 16 cases, additional information on presentation and follow‐up could be added from 14 later published articles (Table S1).…”

Section: Resultsmentioning

confidence: 99%

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

et al. 2015

View full text Add to dashboard Cite

There is a diagnostic window during which diabetes and anaemia are present although there is an absence of neurological symptoms. Screening for aceruloplasminemia in adult non-obese individuals presenting with antibody-negative, insulin-dependent diabetes mellitus and unexplained anaemia is recommended. The combination of ferritin and transferrin saturation provides a sensitive initial measure for aceruloplasminemia.

show abstract

Section: Resultsmentioning

confidence: 99%

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Also, due to its insolubility in water, the method advised to patients for taking the medicine orally is quite cumbersome (Novartis 2015). In addition, reports suggest that although DFX is able to reduce both hepatic iron storage and serum ferritin concentration, it is not so efficient to treat brain iron overload (Finkenstedt et al 2010;Tai et al 2014). A recent study (Kamalinia et al 2013) has demonstrated the use of lactoferrin-DFX conjugate for efficient BBB permeation.…”

Section: Introductionmentioning

confidence: 99%

Deferasirox-TAT(47–57) peptide conjugate as a water soluble, bifunctional iron chelator with potential use in neuromedicine

et al. 2015

View full text Add to dashboard Cite

Deferasirox (DFX), an orally active and clinically approved iron chelator, is being used extensively for the treatment of iron overload. However, its water insolubility makes it cumbersome for practical use. In addition to this, the low efficacy of DFX to remove brain iron prompted us to synthesize and evaluate a DFX-TAT(47-57) peptide conjugate for its iron chelation properties and permeability across RBE4 cell line, an in vitro model of the blood-brain barrier. The water-soluble conjugate was able to remove labile iron from buffered solution as well as from iron overloaded sera, and the permeability of DFX-TAT(47-57) conjugate into RBE4 cells was not affected compared to parent deferasirox. The iron bound conjugate was also able to translocate through the cell membrane.

show abstract

“…This early identification of aceruloplasminemia subjects enabled the exploration of effect of chelation therapy in the pre-neuro-symptomatic phase. Importantly, studies reported that these still asymptomatic individuals remained free of neurologic symptoms during follow-up lasting up to 10 years [44,46,58,59,[61][62][63][64]. Lifelong iron chelation therapy may thus potentially prevent neurologic symptoms.…”

Section: Aceruloplasminemiamentioning

confidence: 99%

Iron chelation in the treatment of neurodegenerative diseases

Dušek

Schneider

Aaseth

2016

Journal of Trace Elements in Medicine and Biology

104

View full text Add to dashboard Cite

a b s t r a c tDisturbance of cerebral iron regulation is almost universal in neurodegenerative disorders. There is a growing body of evidence that increased iron deposits may contribute to degenerative changes. Thus, the effect of iron chelation therapy has been investigated in many neurological disorders including rare genetic syndromes with neurodegeneration with brain iron accumulation as well as common sporadic disorders such as Parkinson's disease, Alzheimer's disease, and multiple sclerosis. This review summarizes recent advances in understanding the role of iron in the etiology of neurodegeneration. Outcomes of studies investigating the effect of iron chelation therapy in neurodegenerative disorders are systematically presented in tables. Iron chelators, particularly the blood brain barrier-crossing compound deferiprone, are capable of decreasing cerebral iron in areas with abnormally high concentrations as documented by MRI. Yet, currently, there is no compelling evidence of the clinical effect of iron removal therapy on any neurological disorder. However, several studies indicate that it may prevent or slow down disease progression of several disorders such as aceruloplasminemia, pantothenate kinase-associated neurodegeneration or Parkinson's disease.

show abstract

Case of presymptomatic aceruloplasminemia treated with deferasirox

Cited by 29 publications

References 23 publications

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

Deferasirox-TAT(47–57) peptide conjugate as a water soluble, bifunctional iron chelator with potential use in neuromedicine

Iron chelation in the treatment of neurodegenerative diseases

Contact Info

Product

Resources

About