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唾液酸蓄积病(SASD),亦称Salla病,在患者组织中发现游离N-乙酰神经氨酸(唾液酸)的异常蓄积,故又称全身N-乙酰神经氨酸蓄积病。有报告尿中含有大量唾液酸,故作者提议称为高唾液酸尿症。作者报告了三个家族中SASD病,简介如下:M家族,先证者系一男性白人,出生时未发现异常,数月后见粗陋面容,肝脾肿大,以及空泡淋巴细胞,18个月死亡。他的一姐妹具有相同的病程与结局。第三次妊娠正常。S家族:先证者为一女性白人,出生时伴有明显腹水,肝脾中度肿大,全身水肿,呈粗劣面容。由于肝脾加剧肿大,一月后死
Sialic acidosis (SASD), also known as Salla disease, is an abnormal accumulation of free N-acetylneuraminic acid (sialic acid) found in the patient’s tissues and is also called systemic N-acetylneuraminic acid accumulation disease. There are reports of urine contains a lot of sialic acid, so the author proposed as high sialic aciduria. The authors report SASD disease in the three families. The brief introduction is as follows: The M family, proband, a male Caucasian, was found to have no abnormalities at birth, a few months later with rough faces, hepatosplenomegaly, and vacuolar lymphocytes, 18 Month of death. One of his sisters has the same course and outcome. The third pregnancy is normal. S family: proband is a female white, accompanied by significant ascites at birth, moderate enlarged liver and spleen, systemic edema, was poor face. As the liver and spleen aggravate enlargement, died in January