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34例 Rotor 综合征(先天性非溶血性黄疸,直接胆红质增高Ⅱ型)的临床症状,发病机理、遗传学及尿中粪卟啉异性体测定进行分析如下:34例中,男9,女25,80%以上在12岁以下发现黄疸。这些患者属于23个家族,有18家的患者近亲中有 Rotor 氏综合征患者,其中家族史确切的13个家族中,有10家仅见于同胞,3家可见于同胞及父、母亲或子女。患者双亲系近亲结婚者仅1例。多数患者有怠倦感,可有腹痛等自觉症状。29例(85%)血清胆红素总量为3.1～7.0mg%,除3例外,直接胆红素均在50%以上,有18例达71～80%。测定22例酚四溴酞钠试验(BSP)30分钟滞留量均在40%以上,测定12例45分钟滞留量,有10例超过30%,未见再升高现象。24例进行吲哚氰绿排泄试验(ICG)其15分钟滞留率均在40%以上。血清酶检查,11.8%可见 GOT异常;8.8%见 GPT 异常;9.1%有 ALP 异常,但多为一过性。26例作胆囊造影均可显影。肝活检的10例中,有7例基本正常,2例在肝小叶内仅见圆形细胞浸润,另外1例肝实质细胞及其周围间质内有脂褐
34 cases of Rotor syndrome (congenital non-hemolytic jaundice, direct bilirubin increased type Ⅱ) clinical symptoms, pathogenesis, genetics and urine fecal porphyrin isomer determination were analyzed as follows: 34 cases, male 9, Female 25, 80% above jaundice found under 12 years old. Of these 23 families, 18 of the 18 patients had Rotor’s syndrome. Of the 13 families with exact family history, 10 were found in siblings and 3 were found in siblings and their parents or mothers or children. Only one patient was married to a close relative of the patient. Most patients have a sense of fatigue, abdominal pain and other symptoms may have. In 29 cases (85%), the total amount of serum bilirubin was 3.1-7.0 mg%, except for 3 cases, the direct bilirubin was above 50%, and 18 cases reached 71-80%. Determination of 22 cases phenolphthalocyanine sodium test (BSP) 30 minutes retention were more than 40%, 12 cases measured 45 minutes retention, 10 cases more than 30%, no further increase in the phenomenon. 24 cases of indocyanine green excretion test (ICG) 15 minutes retention rate of more than 40%. Serum enzyme test, 11.8% showed GOT abnormalities; 8.8% see GPT abnormalities; 9.1% ALP abnormalities, but mostly transient. 26 cases of gallbladder imaging can be developed. Liver biopsy in 10 cases, 7 cases were normal, only 2 cases of circular cell infiltration in the hepatic lobule, another case of liver parenchymal cells and the surrounding interstitial lipid-brown