Criteria for Early Identification of Aceruloplasminemia

Ogimoto, Masaro; Anzai, Keizo; Takenoshita, Hiromasa; Kogawa, Kazuhiko; Akehi, Yuko; Yoshida, Ryoko; Nakano, Makiko; Yoshida, Katsumi; Ono, Junko

doi:10.2169/internalmedicine.50.5108

Cited by 41 publications

(31 citation statements)

References 12 publications

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“…As in other cases of ACP reported in the literature [6] [7], our patient presented a moderate degree of anemia, associated with low serum iron and high serum ferritin. These features are typical of aceruloplasminemia and antecedent to the development of neurological symptoms.…”

Section: Discussionsupporting

confidence: 83%

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Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient

Calvaruso¹,

Renda²,

Renda³

et al. 2016

OJIM

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Hereditary aceruloplasminemia is a rare disease characterized by iron overload and neurodegeneration. Aceruloplasminemia is due to the absence/deficiency of ceruloplasmin, responsible for iron overload in liver, pancreas and other organs. We report the case of an Italian patient with hyperferritinemia, diabetes and hepatic iron excess, suspected to be affected by aceruloplasminemia. Patient underwent brain magnetic resonance imaging with and without paramagnetic medium contrast, which showed a hypointesity due to iron storage. The presence of a neurological disease and iron storage in the brain has led to assume the suspect of the aceruloplasminemia disease. We confirmed this hypothesis by the identification of a new nonsense mutation in exon 12 ceruloplasmin gene at codon 748, in homozygous status. When the diagnosis of ACP was established, the patient started chelation therapy with 75 mg/Kg/day deferiprone (DFP). Two months of starting therapy with DFP, serum ferritin values decreased to 693 ng/ml; the patient well tolerated the drug, and there have been no adverse events. Although rare, aceruloplasminemia should be considered in the differential diagnosis of unexplained iron overload.

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Section: Discussionsupporting

confidence: 83%

“…Because of the difficulty of recovering neurological damages, the dosage of serum copper and CP may be useful in early diagnosis of ACP in patients with elevated serum ferritin values and microcytic hypochromic anemia, especially in patients with insulin-dependent diabetes [6] [7].…”

Section: Discussionmentioning

confidence: 99%

Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient

Calvaruso¹,

Renda²,

Renda³

et al. 2016

OJIM

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“…87 Diabetes (typically type 2) can precede the neurological symptoms by several decades. 88 In addition to low or absent CP, patients with aceruloplasminemia typically show elevated serum ferritin, decreased serum iron, microcytic anemia, and low serum copper with normal urinary copper levels. Brain imaging reveals hypointense basal ganglia, dentate nucleus and thalamic signal changes.…”

Section: Other Copper Transport Disorders and Related Diseasesmentioning

confidence: 99%

Wilson's disease and other neurological copper disorders

Bandmann

Weiss

Kaler

2015

The Lancet Neurology

792

534

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Summary The classic copper metabolism disorder, Wilson disease (WD), was first defined in 1912. Both early onset presentations in infancy and late onset manifestations in adults > 70 years are now well recognized. Modern biochemical and genetic prevalence studies suggest that WD may be considerably more common than previously appreciated. Early diagnosis of WD is crucial to ensure that patients can be started on adequate treatment but uncertainty remains about the best possible choice of medication. Direct genetic testing for ATP7B mutations is increasingly available to confirm the clinical diagnosis of WD. WD needs to be differentiated from other conditions that present clinically with hepatolenticular degeneration or share biochemical abnormalities with WD, such as reduced serum cerulo plasmin levels. Disordered copper metabolism is also implied in an increasing number of other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations, and the common late-onset neurodegenerative disorders Alzheimer’s disease and Parkinson’s disease.

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“…It allows transportation of iron by its ferroxidase enzyme activity, which converts Fe +2 to Fe +3 and leads to the binding of iron to transferrin. Thus, iron is mobilized from its tissue depots (1,2,3,4,5). Aceruloplasminemia (AP) is an autosomal recessive inherited disease caused by mutations in the CP gene.…”

mentioning

confidence: 99%

“…Iron accumulates in astrocytes and microglial cells more than neurons in these regions and causes cell death (2,3). The classic triad of AP includes diabetes mellitus, retinal degeneration, and adult-onset neurologic symptoms (2,5). Early diagnosis of the disease with clinical symptoms is difficult because the phenotype of the disease is heterogeneous (2).…”

mentioning

confidence: 99%