Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review

Abstract

Congenital analbuminaemia is a rare disorder with remarkably mild signs and symptoms at all ages. Although often thought to be innocent, this disorder may have important clinical complications.

Perinatal and childhood morbidity and mortality in congenital analbuminemia

“…Individuals with CAA undergo a series of compensatory mechanisms including an increase in alternative proteins, an increase in protein half-life and adjustments to the osmotic and hydrostatic pressure gradients (1). In the absence of serum albumin, hepatic cells compensate by increasing the biosynthesis of other plasma proteins, including α, β and γ proteins (5).…”

“…Studies have found that the half-life of infused albumin in individuals with CAA is prolonged by up to four-times, with the rate of degradation slowing as serum albumin levels decrease (2,12,13). The osmotic pressure gradient is maintained by the compensatory increase in plasma proteins, as well as by increased transcapillary fluid filtration and lymph drainage, and the reduced hydrostatic pressure gradient is achieved by lowered capillary blood pressure and increased interstitial hydrostatic pressures (1).…”

“…Albumin maintains colloid osmotic pressure and is an important carrier protein of nutrients, wastes and hormones (1). Previously reported CAA cases describe individuals as being relatively asymptomatic, with the most frequently associated complications including lipodystrophy, hypercholesterolemia, frequent lower respiratory tract infections (LRTI) in children and low birth weight (1).…”

“…Albumin maintains colloid osmotic pressure and is an important carrier protein of nutrients, wastes and hormones (1). Previously reported CAA cases describe individuals as being relatively asymptomatic, with the most frequently associated complications including lipodystrophy, hypercholesterolemia, frequent lower respiratory tract infections (LRTI) in children and low birth weight (1). Few reports have provided antenatal and maternal history, although it has been hypothesized that the low incidence of CAA may in part be due to affected fetuses creating an inhospitable in-utero environment (1,2).…”

“…Previously reported CAA cases describe individuals as being relatively asymptomatic, with the most frequently associated complications including lipodystrophy, hypercholesterolemia, frequent lower respiratory tract infections (LRTI) in children and low birth weight (1). Few reports have provided antenatal and maternal history, although it has been hypothesized that the low incidence of CAA may in part be due to affected fetuses creating an inhospitable in-utero environment (1,2). CAA is a rare condition with 50 cases having been recorded since 1954, with an estimated frequency of 1 in 1,000,000 (3).…”