China
Africa
Explore chapters and articles related to this topic
Proteins in plasma and urine
Published in Martin Andrew Crook, Clinical Biochemistry & Metabolic Medicine, 2013
There are several inherited abnormalities of albumin synthesis: the bisalbuminaemias, in which two forms of albumin are present; there are usually no clinical consequences,analbuminaemia, in which there is deficient synthesis of the protein; clinical consequences are slight, and oedema, although present, is surprisingly mild.
Aspects of Bilirubin Transport
Published in Karel P. M. Heirwegh, Stanley B. Brown, Bilirubin, 1982
Jules A. T. P. Meuwissen, Karel P.M. Heirwegh
When albumin in the circulation is decreased or absent (hypo- or analbuminemia) the binding distribution is expected to be shifted in favor of the intracellular compartment, resulting in a lower than normal bilirubinemia. Hepatic uptake and clearance of albumin-bound ligands would also be increased provided that the binding activity of the liver is unimpaired. Sprague-Dawley rats show a bimodal distribution of the total and intrinsic clearances of bilirubin.178 The differences between both groups could be due to differences in reserve binding activity in plasma and/or cytosol.
A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia
Published in British Journal of Biomedical Science, 2021
G Caridi, A Farokhnia, F Lugani, AM de Luca, M Campagnoli, M Galliano, D Schröpfer, L Minchiotti
Congenital analbuminaemia (OMIM # 616,000) is a rare autosomal recessive disorder, characterized by the near-complete absence, or very low levels, of serum albumin. The clinical diagnosis is usually made by serum protein electrophoresis and immunonephelometry [1,2]. However, since albumin levels vary depending on the method for their quantification, and as hypoalbuminaemia may be caused by many different clinical conditions, the mutation analysis of the albumin gene is mandatory in establishing the diagnosis of congenital analbuminaemia [1,2]. The condition is relatively benign in adulthood because the compensatory increase of other plasma proteins does partly take over the functions of albumin. Most adult analbuminaemic individuals are either asymptomatic or oligosymptomatic, with moderate clinical symptoms such as mild oedema, hypotension, and fatigue [1,2]. However, almost all show hypercholesterolaemia and elevated LDL-cholesterol levels, likely increase the risk of premature atherosclerosis and cardiovascular disease, although lack of an adequate follow-up data brings difficulty in confirming this link [2–4]. Furthermore, albumin concentration is considered a remarkably strong prognostic indicator of morbidity and mortality, especially in the elderly and in hospitalized patients [2]. In contrast with the mild symptoms in adulthood, congenital analbuminaemia can have serious consequences during the prenatal period, causing miscarriages and preterm birth, and can lead to death in early childhood, mainly from fluid retention and infections of the lower respiratory tract [2,5,6]. The rarity of the trait has been attributed to the fact that only a few analbuminaemic individuals survive past the pre- and perinatal period [2,5,6]. A confirmation of this hypothesis is provided by a recent survey, showing that congenital analbuminaemia is the second most common direct cause of deaths in children younger than 5 years [7].
British Journal of Biomedical Science in 2021. What have we learned?
Published in British Journal of Biomedical Science, 2021
There were a wide assortment of case reports presented throughout the journal in all issues starting with Issue 1, Ekbatani et al [29], in their series of three case studies of children, describe how the infants presented initially with gastro-intestinal symptoms and only on subsequent chest X-ray and PCR testing for SARS-CoV-2 were found to have the typical lung opacities associated with the virus and a positive result, respectively. Consequently, if children with gastrointestinal symptoms present at hospital, the possibility of an underlying SARSCoV-2 infection should not be overlooked. In Issue 2, we saw the application of next generation sequencing (NGS), Galliguez et al [30] using (NGS) metagenomics to identify Prevotella pleuritidis in a diabetic adolescent with large parapneumonic effusion and negative growth of pleural fluid culture. The report described a 12-year-old diabetic boy with a right-sided parapneumonic effusion and pneumonia who failed initial empirical antibiotics. Prevotella pleuritidis was identified from the pleural fluid using next-generation sequencing-based clinical metagenomics with cultures of pleural fluid and blood resulting negative. The patient responded well to intravenous meropenem followed by oral metronidazole. In Issue 3, we saw a case study on congenital analbuminaemia, which is a rare autosomal recessive disorder, characterized by the near-complete absence, or very low levels, of serum albumin. However, this is difficult to diagnose using traditional methods of albumin measurement as levels can be decreased in disease and routine methods are not capable of accurately determining very low levels in serum. Diagnosis therefore has to be made by mutation analysis of the albumin gene. Caridi et al [31] describe a novel mutation in the gene detected in an adult. The proband was heterozygous for the mutation and showed near normal albumin levels (as occurs in other cases involving mutation of this gene). The authors suggest that the majority of the defects in the gene arise from spontaneous mutations, with the possibility of hypermutable regions of the gene.