Analbuminaemia: clinical features and associated hypercholesterolaemia

Crook, M

doi:10.1177/0004563216657841

Cited by 6 publications

(6 citation statements)

References 19 publications

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“…Table was the content of SA after converting the adult‘s serum content. The SA content in the serum varied from 1.8 to 2.66 mM, which was reasonably consistent with previously reported values . The recovery experiments were carried out and good recoveries ranged between 95 %∼107 % were achieved.…”

Section: Resultssupporting

confidence: 89%

Amplified Electrochemical Aptasensor for Sialic Acid Based on Carbon‐Cloth‐Supported Gold Nanodendrites and Functionalized Gold Nanoparticles

et al. 2020

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The abnormal expression of sialic acid (SA) on the cell surface or in bodily fluids has been proven to correlate with several diseases. An electrochemical approach has been developed for the sensitive and accurate determination of SA in human serum samples. Gold nanodendrites (AuNDs) electrodeposited on a carbon cloth (CC) electrode were utilized as the substrate electrode and provided high surface area and conductivity. The thiolated nucleic acid aptamer of SA was immobilized and recognized SA specifically, followed by the attachment of the nanocomposite of gold nanoparticles with 4‐mercaptophenylboric acid and thionine (MPBA−AuNP−Th) via boronic acid‐diol binding. An amplified signal by the electrochemical reduction of Th could be obtained because of high conductivity of substrate and high loading of Th on AuNPs. The proposed sensor exhibited remarkable selectivity and high sensitivity with a low detection limit of 60 nM, owing to the high affinity of aptamer and the signal amplification strategy, respectively. The feasibility of the aptasensor was verified by evaluation of SA level in human serum.

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Section: Resultssupporting

confidence: 89%

Amplified Electrochemical Aptasensor for Sialic Acid Based on Carbon‐Cloth‐Supported Gold Nanodendrites and Functionalized Gold Nanoparticles

et al. 2020

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“…Congenital analbuminemia has a great impact on the lipid metabolism resulting in gross hyperlipidemia with severe hypercholesterolemia and elevated LDL-cholesterol levels. In more detail, increased esterified cholesterol, free fatty acids and apolipoprotein B concentrations may occur as well as increased high-density lipoprotein-3 and apolipoprotein A-I and A-II levels (Crook, 2016). By contrast, the levels of HDL-cholesterol and triglycerides are usually normal.…”

Section: Consequences Of Caamentioning

confidence: 99%

“…By contrast, the levels of HDL-cholesterol and triglycerides are usually normal. The severe hypercholesterolemia may be the result of a compensatory mechanism for the lack of ALB and provides evidence for the possible role of ALB in controlling lipoprotein metabolism (Crook, 2016). Some adult patients, especially females, develop a peculiar lower body lipodystrophy, often with abnormal body habitus (Peters, 1996; Minchiotti et al, 2013).…”

Section: Consequences Of Caamentioning

confidence: 99%

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

et al. 2019

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Congenital analbuminemia (CAA) is an inherited, autosomal recessive disorder with an incidence of 1:1,000,000 live birth. Affected individuals have a strongly decreased concentration, or complete absence, of serum albumin. The trait is usually detected by serum protein electrophoresis and immunochemistry techniques. However, due to the existence of other conditions in which the albumin concentrations are very low or null, analysis of the albumin ( ALB ) gene is necessary for the molecular diagnosis. CAA can lead to serious consequences in the prenatal period, because it can cause miscarriages and preterm birth, which often is due to oligohydramnios and placental abnormalities. Neonatally and in early childhood the trait is a risk factor that can lead to death, mainly from fluid retention and infections in the lower respiratory tract. By contrast, CAA is better tolerated in adulthood. Clinically, in addition to the low level of albumin, the patients almost always have hyperlipidemia, but they usually also have mild oedema, reduced blood pressure and fatigue. The fairly mild symptoms in adulthood are due to compensatory increment of other plasma proteins. The condition is rare; clinically, only about 90 cases have been detected worldwide. Among these, 53 have been studied by sequence analysis of the ALB gene, allowing the identification of 27 different loss of function (LoF) pathogenic variants. These include a variant in the start codon, frame-shift/insertions, frame-shift/deletions, nonsense variants, and variants affecting splicing. Most are unique, peculiar for each affected family, but one, a frame-shift deletion called Kayseri, has been found to cause about one third of the known cases allowing to presume a founder effect. This review provides an overview of the literature about CAA, about supportive and additional physiological and pharmacological information obtained from albumin-deficient mouse and rat models and a complete and up-to-date dataset of the pathogenic variants identified in the ALB gene.

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“…Studies have been shown that a deficiency in ALB disrupts intravascular lipolysis, resulting in a shortage of free fatty acids and a diminished clearance of triglyceride, consequently leading to hypertriglyceridemia ( Figueira et al, 2010 ). Interestingly, research has demonstrated that ALB infusion helps alleviate dyslipidemia in models of anaplastic anemia, providing compelling evidence for the positive role of serum albumin in regulating lipoprotein metabolism ( Rosipal et al, 2006 ; Del Ben et al, 2013 ; Crook, 2016 ). All of these observations align with the findings of our study, indicating that ALB serves as a protective predictor of dyslipidemia in children with epilepsy.…”

Section: Discussionmentioning

confidence: 99%

Pre-treatment risk predictors of valproic acid-induced dyslipidemia in pediatric patients with epilepsy

Liang,

Lin,

Ning

et al. 2024

Front. Pharmacol.

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Background: Valproic acid (VPA) stands as one of the most frequently prescribed medications in children with newly diagnosed epilepsy. Despite its infrequent adverse effects within therapeutic range, prolonged VPA usage may result in metabolic disturbances including insulin resistance and dyslipidemia. These metabolic dysregulations in childhood are notably linked to heightened cardiovascular risk in adulthood. Therefore, identification and effective management of dyslipidemia in children hold paramount significance.Methods: In this retrospective cohort study, we explored the potential associations between physiological factors, medication situation, biochemical parameters before the first dose of VPA (baseline) and VPA-induced dyslipidemia (VID) in pediatric patients. Binary logistic regression was utilized to construct a predictive model for blood lipid disorders, aiming to identify independent pre-treatment risk factors. Additionally, The Receiver Operating Characteristic (ROC) curve was used to evaluate the performance of the model.Results: Through binary logistic regression analysis, we identified for the first time that direct bilirubin (DBIL) (odds ratios (OR) = 0.511, p = 0.01), duration of medication (OR = 0.357, p = 0.009), serum albumin (ALB) (OR = 0.913, p = 0.043), BMI (OR = 1.140, p = 0.045), and aspartate aminotransferase (AST) (OR = 1.038, p = 0.026) at baseline were independent risk factors for VID in pediatric patients with epilepsy. Notably, the predictive ability of DBIL (AUC = 0.690, p < 0.0001) surpassed that of other individual factors. Furthermore, when combined into a predictive model, incorporating all five risk factors, the predictive capacity significantly increased (AUC = 0.777, p < 0.0001), enabling the forecast of 77.7% of dyslipidemia events.Conclusion: DBIL emerges as the most potent predictor, and in conjunction with the other four factors, can effectively forecast VID in pediatric patients with epilepsy. This insight can guide the formulation of individualized strategies for the clinical administration of VPA in children.

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Analbuminaemia: clinical features and associated hypercholesterolaemia

Cited by 6 publications

References 19 publications

Amplified Electrochemical Aptasensor for Sialic Acid Based on Carbon‐Cloth‐Supported Gold Nanodendrites and Functionalized Gold Nanoparticles

Amplified Electrochemical Aptasensor for Sialic Acid Based on Carbon‐Cloth‐Supported Gold Nanodendrites and Functionalized Gold Nanoparticles

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

Pre-treatment risk predictors of valproic acid-induced dyslipidemia in pediatric patients with epilepsy

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