Recurrent Hypoglycemia in a Case of Congenital Analbuminemia

Abstract

In congenital analbuminemia (CAA), mutations in the albumin gene result in a severe deficiency or absence of plasma albumin. Only about 90 cases have been reported to date, but the specific features of glucose and lipid metabolism in congenital analbuminemia have only been studied in a rat model of analbuminemia. We report the case of a female patient hospitalized for a streptococcal skin infection who showed recurrent hypoglycemia. A diagnosis of CAA was confirmed by mutation analysis and by the detection of a single base variation in the ALB gene. Hypoglycemia was first documented after a fasting period during acute illness. Recurrent hypoglycemia persisted despite good general condition and normal nutrition during antimicrobial therapy with moxifloxacin. Several contributing factors causing this hypoglycemia can be discussed. Individuals with CAA are prone to adverse drug effects caused by changes in drug-protein binding properties. It is unclear if specific changes of glucose and lipid metabolism in CAA constitute a risk factor for hypoglycemia.

A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy

“…The truncating variant in INSR, c.3079C>T; p.Arg1027* (rs121913144), is a good candidate to explain the lipedema phenotype. In fact, heterozygous mutations in INSR have been associated with familial hyperinsulinemic hypoglycemia [36], and a patient with recurrent hypoglycemia has been reported to have bilateral lower limb lipedema [37]. We have also found a rare missense variant predicted to be deleterious in the same gene, c.3262C>T; p.Arg1088Cys (rs867075117), in another subject.…”