First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant

Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient's father and eldest son had similar thyroid function test results and were confirmed to have the same variant. Although the prevalence of FDH might be very low in the Korean population, clinical suspicion is important to avoid unnecessary evaluation and treatment.

Chinese herbs improve transcription of the gene for albumin in nephrotic syndrome rats / 中华肾脏病杂志

; 3. therapy with A&A (A&A); 4. Astragali alone (A); 5. Astragali polysac-charide Ⅰ (APⅠ); 6. AP Ⅱ ; 7. Astragali glucoside (AG), Results The level of serum albumin,albumin mRNA and albumin gene transcription were measured by biochemistry, Northern blot hybridization, nuclear run-on assay and quantity in laser density screening. The level of serum albumin in N was significantly lower than C. The serum albumin concentration in each therapy group was higher than N group. The transcription of the albumin gene was higher in N than in C and highest in A&A. The alterations of northern blot hybridization were same as the transcription results. But both the level of albumin mRNA and the transcription of albumin gene in A, AP I , AP I and AG were no change compared with N. Conclusion A&A increases albumin mRNA expression at least in part by improving the rate of gene transcription, which participate the protection of the decrease of serum albumin in NS. But the effect of A, AP 1 , AP I and AG may mediated by other unknown mechanisms.