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遗传性慢性胰腺炎:一种常染色体显性疾病(作者译)

[Hereditary chronic pancreatitis: an autosomal dominant disease (author's transl)].

作者信息

Stoll C, Bigel R, Levy J M

出版信息

Sem Hop. 1979;55(19-20):1016-20.

PMID:227088
Abstract

We have studied a family in which three people, two child and an adult had hereditary pancreatitis. Hereditary pancreatitis is not a common disease. Abdominal pain is usually the first clinical sign in children. The knowledge of the existence of such a disease and familiarity with the family history of the child allow the pediatrician to make the diagnosis as soon as the first crisis appears. Surgery is thus avoided. Our studies show definitively that this disease is hereditary and is autosomal dominant with a strong decrease of the penetrance.

摘要

我们研究了一个家庭,其中有三个人,两个孩子和一个成年人患有遗传性胰腺炎。遗传性胰腺炎并非常见疾病。腹痛通常是儿童的首个临床症状。了解此类疾病的存在并熟悉孩子的家族病史,能让儿科医生在首次发病时就做出诊断。从而避免手术。我们的研究明确表明,这种疾病具有遗传性,是常染色体显性遗传,且外显率大幅降低。

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[Chronic hereditary pancreatitis].[慢性遗传性胰腺炎]
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