A Chinese family with familial dysalbuminaemic hyperthyroxinaemia

Hong Kong Medical Journal

Volumn 9, Issue 6, 2003, Pages 464-467

  Tiu, S C ^a   Choi, K L ^a   Shek, C C ^a   Lau, T C ^a  

^a QUEEN ELIZABETH HOSPITAL   (Hong Kong)

Author keywords

Chinese; Hyperthyroxinemia; Mutation; Serum albumin; Thyroxine

Indexed keywords

ADENINE; DNA; GUANINE; LIOTHYRONINE; SERUM ALBUMIN; THYROTROPIN; THYROXINE;

ADULT; ARTICLE; CASE REPORT; CHINESE; ENDOCRINE DISEASE; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HYPERTHYROIDISM; HYPERTHYROXINEMIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; THYROID FUNCTION TEST;

ADULT; CHINA; FEMALE; HUMANS; HYPERTHYROXINEMIA; PEDIGREE; SERUM ALBUMIN; THYROID FUNCTION TESTS; THYROXINE;

EID: 0346093654     PISSN: 10242708     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Croxson MS, Palmer BN, Holdaway IM, Frengley PA, Evans MC. Detection of familial dysalbuminaemic hyperthyroxinaemia. Br Med J (Clin Res Ed) 1985;290:1099-102.
2. Fleming SJ, Applegate GF, Beardwell CG. Familial dysalbuminaemic hyperthyroxinaemia. Postgrad Med J 1987;63:273-5.
3. Weiss RE, Sunthornthepvarakul T, Angkeow P, et al. Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab 1995;80: 116-21.
4. Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun 1994;202:781-7.
5. Petersen CE, Scottolini AG, Cody LR, Mandel M, Reimer N, Bhagavan NV. A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. J Med Genet 1994; 31:355-9.
6. Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J Clin Endocrinol Metab 1997;82:3246-50.
7. Tang KT, Yang HJ, Choo KB, Lin HD, Fang SL, Braverman LE. A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. Eur J Endocrinol 1999;141: 374-8.
8. DeCosimo DR, Fang SL, Braverman LE. Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. Ann Intern Med 1987;107:780-1.
9. Stockigt JR, Stevens V, White EL, Barlow JW. 'Unbound analog' radioimmunoassays for free thyroxin measure the albumin-bound hormone fraction. Clin Chem 1983;29:1408-10.
10. De Nayer P, Malvaux P, Beckers C. Familial dysalbuminemic hyperthyroxinemia (FDH): inadequacy of the 'analog' methods for assaying free-T4 levels. Eur J Nucl Med 1984;9:284-5.
11. Wood DF, Zalin AM, Ratcliffe WA, Sheppard MC. Elevation of free thyroxine measurements in patients without thyrotoxicosis. Q J Med 1987;65:863-70.
12. Sapin R, Gasser F, Schlienger JL. Familial dysalbuminemic hyperthyroxinemia and thyroid hormone autoantibodies: interference in current free thyroid hormone assays. Horm Res 1996;45: 139-41.
13. AvRuskin TW, Juan CS, Weiss RE. Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis. J Pediatr Endocrinol Metab 2002;15: 801-7.
14. Flechner I, Aranoff G, Reifen R, Landau H. Detection of albumin binding abnormalities in sera of patients with familial dysalbuminaemic hyperthyroxinaemia using isoelectric focusing. Endocr Res 1992;18: 229-40.