Familial dysalbuminemic hyperthyroxinemia: A rare example of albumin polymorphism and its rapid molecular diagnosis

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue 6, 2002, Pages 801-807

  AvRuskin, Theodore W ^a   Juan, Christina S ^a   Weiss, Roy E ^a  

^a BROOKDALE UNIVERSITY HOSPITAL AND MEDICAL CENTER   (United States)

Author keywords

Albumin polymorphism; Familial dysalbuminemic hyperthyroxinemia

Indexed keywords

ADENINE; ALBUMIN ANTIBODY; ARGININE; CYTOSINE; GENOMIC DNA; GUANINE; HISTIDINE; LIOTHYRONINE; MUTANT PROTEIN; OLIGONUCLEOTIDE; SERUM ALBUMIN; THYROXINE; 3,3',5' TRIIODOTHYRONINE; DNA; THYROTROPIN;

ALBUMIN BLOOD LEVEL; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BINDING AFFINITY; CLINICAL ARTICLE; CODON; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DNA DETERMINATION; ETHNIC GROUP; EUTHYROIDISM; FAMILIAL DISEASE; FAMILY; FEMALE; FOUNDER EFFECT; GENE AMPLIFICATION; GENE MUTATION; HORMONE BINDING; HUMAN; HYPERTHYROXINEMIA; ISOELECTRIC FOCUSING; LABORATORY TEST; LIOTHYRONINE BLOOD LEVEL; MALE; METABOLITE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN POLYMORPHISM; RESTRICTION SITE; THYROID FUNCTION TEST; ADOLESCENT; ADULT; BLOOD; CASE REPORT; CHEMISTRY; CHILD; GENETIC POLYMORPHISM; GENETICS; HYPERTHYROIDISM; LEUKOCYTE; MUTATION; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; ALLELES; CHILD; DNA; FEMALE; HUMANS; HYPERTHYROIDISM; ISOELECTRIC FOCUSING; LEUKOCYTES; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SERUM ALBUMIN; THYROID FUNCTION TESTS; THYROTROPIN; THYROXINE; TRIIODOTHYRONINE; TRIIODOTHYRONINE, REVERSE;

EID: 0035986391     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2002.15.6.801     Document Type: Article

References (20)

1. Raised total thyroxine and free thyroxine index but normal free thyroxine. A serum abnormality due to inherited increased affinity of iodothyronines for serum binding protein
2. Inherited abnormal thyroid hormone-binding protein causing selective increase of total serum thyroxine
3. Detection of familial dysalbuminaemic hyperthyroxinaemia
4. Familial dysalbuminemic hyperthyroxinemia
5. Elevation of free thyroxine measurements in patients without thyroxicosis
6. "Unbound analog" radioimmunoassays for free thyroxine measure the albumin-bound hormone fraction
7. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in eight unrelated families
8. A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia
9. Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia
10. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred
11. Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine
12. Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics
13. Familial dysalbuminemic hypertriiodothyroninemia: A new, dominantly inherited albumin defect
14. Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing
15. Familial hyperthyroxinemia with dysalbuminemia: Screening of 21,000 patients at the occasion of thyroid evaluation
16. Familial dysalbuminaemic hyperthyroxinaemia: A review
17. Familial dysalbuminemic hyperthyroxinemia associated with primary thyroid disease
18. Detection of familial dysalbuminaemic hyperthyroxinaemia
19. Iatrogenic hypothyroidism and postpartum hyperthyroidism in familial dysalbuminaemic hyperthyroxinaemia
20. Postpartum thyroiditis and familial dysalbuminemic hyperthyroxinemia