40例X连锁肾上腺脑白质营养不良患者的基因型及表型_英文_.pdf

北 京 大 学 学 报 ( 医 学 版 ) ·66 · JOURNAL OF PEK IN G UN IV ER SITY (HEAL TH SC IENCES) 　Vol. 38　No. 1　Feb. 2006 ·论著 · The genotype and phenotype stud ies of 40 Ch inese pa tien ts w ith X2linked adrenoleukody strophy( X2ALD ) △ L i2li P IN G, X in2hua BAO , A i2hua WAN G, Hong PAN , Ye WU , Hu i X ION G, Yue2hua ZHAN G, Yu2wu J IAN G, J iong Q IN , X i2ru WU (D ep artm en t of Pediatric s, Pek ing U n iversity F irst Ho sp ital, B eij ing 100034 , Ch ina) A BSTRACT　O b iective: To elucidate the p henotyp e and the genotyp e2p henotyp e correlation s in Ch ine se p atien ts w ith X2linked adreno leukodystrop hy (X2ALD ) . M ethods:C lin ical featu re s of 40 Ch ine se p atien ts w ith X2ALD were studied and m u tation sp ectrum s were inve stigated by po lym era se chain reaction ( PCR ) and sequencing. Results:Among the se p atien ts, fou r were sib lings from two un related fam ilie s, the oth2 ers were unrelated. There were 3 1 ca se sw ith ch ildhood cereb ral (CCALD ) , 8 ca se sw ith ado le scen t cer2 eb ral (ACALD ) and 1 ca se w ith adrenom yeloneu rop athy (AMN ) . V isual imp airm en t, wh ich p re sen ted in 12 ca se s ( 30% ) , wa s the mo st common in itial symp tom. N ine ( 69% ) of 13 ca se s who had hydro2 cortisone and ACTH m ea su red showed adrenal in sufficiency. B y fo llow 2up date, 19 ca se s (47. 5% ) were dead. The in terval from on set to death varied from 1 to 6 years and the average were 3. 3 years. The m