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Congenital analbuminemia

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Other Names:Analbuminemia; ANALBA

Congenital analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA). In the affected individuals albumin concentration may range from < 1 g/L up to 10 g/L .

Cause

All the cases of CAA so far studied at the molecular level are caused by mutations in the albumin gene (ALB), which lies on chromosome 4, near the centromere, at position 4q11–13 .

Inheritance

Autosomal recessive inheritance, a 25% chance

Inheritance is autosomal recessive.

Epidemiology

CAA is very rare: in spite of the fact that the trait is readily detected by routine plasma electrophoretic analysis, only just over fifty cases have been so far reported world-wide and are listed in the Register of Analbuminemia Cases . Its prevalence is estimated at less than 1 in 1 million, apparently without gender or ethnic predilection . Recent data, however, seem to indicate that the frequency of the trait is significantly higher in restricted and minimally admixed population groups, such as a gypsy settlement in Slovakia and two Amerindian communities in Saskatchewan (Canada), than in the average population.

Symptoms

CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). However, CAA patients may loss fat tissue (lipodystrophy) and present with high cholesterol, which may result in early atherosclerosis and heart problems. Rarely, CAA may be complicated by hypercoagulability (when the blood tends to clot too much), osteoporosis (which causes bones to become weak and brittle) and respiratory tract infections. It is more severe in the fetus or during early infancy. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

30%-79% of people have these symptom

  • Hyperlipidemia(Elevated lipids in blood)
  • Hypoproteinemia(Decreased protein levels in blood)
  • Increased alpha-globulin
  • Increased circulating antibody level
  • Lipodystrophy(Inability to make and keep healthy fat tissue)
  • Pedal edema(Fluid accumulation in lower limbs)
  • Premature birth(Premature delivery of affected infants)
  • Small for gestational age(Birth weight less than 10th percentile)

5%-29% of people have these symptoms

  • Facial edema(Facial puffiness)
  • Low pulse pressure
  • Mild global developmental delay
  • Obesity(Having too much body fat)
  • Oligohydramnios(Low levels of amniotic fluid)
  • Recurrent lower respiratory tract infections(Recurrent chest infections)
  • Spontaneous abortion

Diagnosis

The albumin gene of the index case was screened by single-strand conformation polymorphism, heteroduplex analysis, and direct DNA sequencing. The effect of the splicing mutation was evaluated by examining the cDNA obtained by reverse transcriptase - polymerase chain reaction (RT-PCR) from the albumin mRNA extracted from proband’s leukocytes. CAA is very rare: in spite of the fact that the trait is readily detected by routine plasma electrophoretic analysis. To confirm the diagnosis of CAA at the molecular level, a mutational analysis of the ALB was carried out as described in Materials and methods.

Treatment

Treatment aims to prevent heart and vascular problems and may include statins and periodic albumin infusions.

NIH genetic and rare disease info

Congenital analbuminemia is a rare disease.

Latest research - Congenital analbuminemia

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