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What's missing?

A 2-year-old boy with edema and fatigue was admitted for further investigation. The boy had no other notable signs or symptoms. Laboratory investigation showed serum total protein 5.4 g/dL and albumin 1.2 g/dL, with serum calcium 7.2 mg/dL (reference interval 8.8-10.8 mg/dL), magnesium 1.6 mg/dL, and phosphorus 3.3 mg/dL. Serum protein electrophoresis is shown in Fig. 1. Albumin was 0.1 g/dL, and albumin-to-globulin ratio was 0.05 measured by protein electrophoresis.

Questions

1. What is missing from the serum protein electrophoresis?

2. What conditions are associated with this pattern?

3. How do homozygotes and heterozygotes with this condition differ?

The answers are on the next page.

Answers

Analbuminemia is a very rare autosomal recessive disorder in which serum albumin is very low. It is caused by a variety of mutations that result in impaired albumin synthesis (1-4). Homozygous subjects demonstrate analbuminemia, whereas heterozygotes have intermediate concentrations of serum albumin (2, 3). Although albumin may be undetectable by electrophoresis, it can still be measured (typically 0.3 to 1.8 g/dL) using dye-binding albumin methods (5).

Author Contributions: All authors confirmed they have contributed to the intellectual content of this paper and have met the following3 requirements: (a) significant contributions to the conception and design, acquisition of data, or analysis and interpretation of data; (b) drafting or revising the article for intellectual content; and (c) final approval of the published article.

Authors' Disclosures or Potential Conflicts of Interest: No authors declared any potential conflicts of interest.

References

(1.) Watkins S, Madison J, Galliano M, Minchiotti L, Putnam FW. Analbuminemia: three cases resulting from different point mutations in the albumingene. Proc Natl Acad Sci U SA 1994;91:9417-21.

(2.) Campagna F, Fioretti F, Burattin M, Romeo S, Sentinelli F, Bifolco M, et al. Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. Clin Chem 2005;51:1256-8.

(3.) Dolcini L, Caridi G, Dagnino M, Sala A, Gokce S, Sokucu S, et al. Analbuminemia produced by a novel splicing mutation. Clin Chem 2007;53:1549 -52.

(4.) Galliano M, Campagnoli M, Rossi A, Wirsing von Konig CH, Lyon AW, et al. Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin Chem 2002;48:844-9.

(5.) Lyon AW, Meinert P, Bruce GA, Laxdal VA, Salkie ML. Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin Chem 1998;44:2365-7.

Qing H. Meng *

Department of Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX.

* Address correspondence to this author at: Department of Laboratory Medicine, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Unit 37, Houston, TX 77030-4009. Fax 713-792-4793; e-mail qhmeng@mdanderson.org.

Received November 3,2015; accepted December 10,2015.

DOI: 10.1373/clinchem.2015.251819

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Title Annotation:What Is Your Guess?
Author:Meng, Qing H.
Publication:Clinical Chemistry
Date:Jul 1, 2016
Words:479
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