Yonsei Med J.  2019 Jul;60(7):700-703. 10.3349/ymj.2019.60.7.700.

Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea

• Kim Y
• Yang YS
• Park SS
• Kim MJ
• Shin CM
• Choi SH

• KMID: 2450411
• DOI: http://doi.org/10.3349/ymj.2019.60.7.700

Abstract

Congenital analbuminemia (CAA) is an autosomal recessive disease characterized by extremely low serum levels of albumin. CAA is caused by various homozygous or heterozygous mutations of the ALB gene. Patients often exhibit no clinical symptoms, aside from rare accompanying conditions, such as fatigue, ankle edema, and hypotension. This case report describes the case of a 28-year-old asymptomatic Korean male referred to our center with hypocalcemia, vitamin D deficiency, and hypoalbuminemia who was diagnosed with CAA. To determine the cause of hypoalbuminemia in the patient, laboratory tests, radiological examination, and DNA sequencing were performed. The patient was confirmed to not exhibit any other clinical conditions that can induce hypoalbuminemia and was diagnosed with CAA using DNA sequencing. The present case of CAA is the first to be reported in Korea.

Keyword

Hypoalbuminemia; hypocalcemia; vitamin D deficiency; sequence analysis, DNA

MeSH Terms

Adult
Ankle
Edema
Fatigue
Humans
Hypoalbuminemia
Hypocalcemia
Hypotension
Korea*
Male*
Polymorphism, Single Nucleotide*
Sequence Analysis, DNA
Vitamin D Deficiency

Figure

• 

  Fig. 1 Bone mineral density (BMD) in the patient with congenital analbuminemia at the lumbar spine (A) and left femur (B). L1, lumbar spine 1; L2, lumbar spine 2; L3, Lumbar spine 3; L4, Lumbar spine 4; DAP, dose area product; HAL, hip axis length; BMC, bone mineral content; Troch, trochanter; Inter, intertrochanter; Ward's, Ward's triangle; CV, coefficient of variation; ACF, autocorrelation function; BCF, bias correction; TH, total hip.

• 

  Fig. 2 ALB gene mutation analysis reveals NM_000477.5(ALB): c.1668C>T, p.Leu556=, heterozygote. chr4, chromosome 4; bp, base pair.

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