Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Kingma, Sandra D.K.; Neven, Julie; Bael, An; Meuwissen, Marije E.C.; van den Akker, Machiel

doi:10.1186/s13023-023-02889-x

Cited by 2 publications

(1 citation statement)

References 98 publications

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“…On the other hand, Cubilin posttranslational modification and apical membrane expression, are highly dependent on normal amnionless function and localization. It is, therefore, reasonable to assume that mutations in CUBN or AMN gene with proteinuric phenotypes may affect the general expression or that the mutations themselves can lead to cubilin truncation or ultimately affect the clinical phenotype by affecting the cell surface expression of cubilin in patients with AMN mutations [ 17 , 18 ] Human C-terminal CUBN variants are proven to associate with chronic proteinuria and normal renal function through podocyte apoptosis via the PI-3 K/PKB pathway which leads to the reduction ability of cubilin-binding with albumin and more free albumin binding with megalin [ 19 ]. Bedin et al report 39 patients of chronic isolated proteinuria and normal function with CUBN variants, while most of them present minimal change disease or no lesions and only two are in the early stage of FSGS [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?

Yang,

Liu

2024

BMC Nephrol

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Background Proteinuria is a prevalent symptom of pediatric nephrology, while kidney biopsy remains the gold standard for kidney tissue analysis, and it is currently controversial. We report the rare case that the mutation in the AMN gene was considered to cause chronically isolated proteinuria and also suggest that renal biopsy should be chosen with caution in children with chronic isolated non-nephrotic levels of proteinuria and that genetic testing may be feasible for the early precise diagnosis. Case presentation A 35-month-old boy presented with excessive urine foaming for more than half a month; his proteinuria was considered non-nephrotic range and urine protein electrophoresis was suggestive of mixed proteinuria; other than that, the investigations are non-specific. Given the child’s chronic isolated proteinuria and good renal function, we chose to refine the genetic test rather than a renal biopsy; a compound heterozygous variant was found in the AMN gene of this child which was caused by a point mutation in the father, and a partial chromosomal deletion in the mother. Conclusions Cubilin(encoded by CUBN), amnionless(encoded by AMN), and megalin form a multiligand receptor complex; CUBN or AMN gene variants have been implicated as a hereditary cause of megaloblastic anemia, proteinuria, and neurological impairment. In the past few decades, chronic isolated proteinuria caused by CUBN gene variants is benign, non-progressive, and has normal renal function. However, the child is the first reported case of isolated proteinuria of AMN gene mutation, indicating that the earlier diagnostic genetic sequencing in an otherwise well, not nephrotic proteinuria child may be a convenient, cost-effective, and harmless option, challenging the traditional paradigm.

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Section: Discussionmentioning

confidence: 99%

Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?

Yang,

Liu

2024

BMC Nephrol

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Vitamin B12 Metabolism: A Network of Multi-Protein Mediated Processes

Mucha,

Kus,

Cysewski

et al. 2024

IJMS

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The water-soluble vitamin, vitamin B12, also known as cobalamin, plays a crucial role in cellular metabolism, particularly in DNA synthesis, methylation, and mitochondrial functionality. Its deficiency can lead to hematological and neurological disorders; however, the manifestation of these clinical outcomes is relatively late. It leads to difficulties in the early diagnosis of vitamin B12 deficiency. A prolonged lack of vitamin B12 may have severe consequences including increased morbidity to neurological and cardiovascular diseases. Beyond inadequate dietary intake, vitamin B12 deficiency might be caused by insufficient bioavailability, blood transport disruptions, or impaired cellular uptake and metabolism. Despite nearly 70 years of knowledge since the isolation and characterization of this vitamin, there are still gaps in understanding its metabolic pathways. Thus, this review aims to compile current knowledge about the crucial proteins necessary to efficiently accumulate and process vitamin B12 in humans, presenting these systems as a multi-protein network. The epidemiological consequences, diagnosis, and treatment of vitamin B12 deficiency are also highlighted. We also discuss clinical warnings of vitamin B12 deficiency based on the ongoing test of specific moonlighting proteins engaged in vitamin B12 metabolic pathways.

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Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Cited by 2 publications

References 98 publications

Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?

Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?

Vitamin B12 Metabolism: A Network of Multi-Protein Mediated Processes

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