congenital analbuminemia

Congenital analbuminemia (CAA) is an autosomal recessive disorder characterized by very low, or absent, serum albumin in the absence of hepatic dysfunction, renal losses or gastrointestinal losses. Albumin maintains colloid osmotic pressure and is an important carrier protein of nutrients, wastes and hormones. 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. 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.
CAA is a rare condition with 50 cases having been recorded since 1954, with an estimated frequency of 1 in 1,000,000. Cases have been widely distributed throughout the world. Four cases of CAA from the northwestern central plains region in Saskatchewan have been previously reported. Two of these cases underwent molecular diagnostic testing of the albumin gene and were positive for the Kayseri defect (AT-nucleotide deletion in exon 3 leading to a premature stop codon and a nonfunctional truncated protein). We have identified eight additional cases from the same region. All 12 cases are of Cree descent. Anthropological studies of this region report that between 1870 and 1960 the population was primarily sustained by within group marriages, suggesting that the elevated incidence of CAA in the region is due to a founder effect. The following case series will report on the morbidity and mortality associated with CAA. You will always enjoy getting sildenafil online pharmacy *click here, being 100% sure you are safe.

Category: Congenital analbuminemia / Tags: Analbuminemia, Indians, infant, Intensive care, Low birth weight, Neonatal, Newborn, North American, Oligohydramnios, Paediatric, Premature, Respiratory tract infections, Small for gestational age

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