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血卟啉病是由先天性卟啉代谢紊乱引起的代谢性疾病。本文报告家族性血卟啉病4例。 1.临床资料:例1、例2、例3均为女性,是一家族中的第4代人。例1与例3是姑表姐妹,例2与例3是堂姐妹,例4是例3的外甥女。 2.分析讨论:①本文报告的一家族4例均系肝性血卟啉病。发病年龄为23～30岁。例2、例4均在早孕50～70天无任何诱因突发剧烈腹痛,以脐周痛重,伴恶心呕吐,尿呈浓茶样,因误诊乱用药物而被迫终止妊娠。例2误诊为急腹症而剖腹探查。例3误诊为阑尾炎而手术。例4因接受上述教训及时查尿紫质阳性而确诊,幸免一刀之苦。②本文4例均系急性间歇型腹痛,表现为周期性剧烈腹痛,时呈绞痛。以脐周为主,可伴全腹痛,无固定压痛点,
Hemoporphyria is a metabolic disease caused by disorders of the metabolism of the porphyrin. This article reports 4 cases of familial blood porphyria. 1. Clinical data: Cases 1, 2, 3 are female, is the fourth generation of a family. Example 1 and Example 3 are sister-sister, Example 2 and Example 3 are cousins, and Example 4 is the niece of Example 3. 2. Analysis and discussion: ① This report reported a family of 4 cases of hematopoietic disease. The age of onset is 23 to 30 years old. Cases 2 and 4 all have severe acute abdominal pain 50 to 70 days in the first trimester. They are severe abdominal pain with nausea and vomiting. Urine was concentrated in tea samples and was forced to terminate the pregnancy because of misdiagnosis. Case 2 misdiagnosed as acute abdomen and laparotomy. Case 3 misdiagnosed as appendicitis and surgery. Example 4 because of the above-mentioned lessons in a timely manner to check urine urine positive and diagnosed, survived the pain of a knife. ② This article 4 cases are acute intermittent abdominal pain, manifested as periodic severe abdominal pain, angina pectoris. Mainly to the umbilical cord may be accompanied by full abdominal pain, no fixed tenderness point,