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先天性遗传性复发性胆汁淤积症中的淋巴水肿。

Lymphoedema in hereditary recurrent cholestasis from birth.

作者信息

Aagenaes O, Sigstad H, Bjorn-Hansen R

出版信息

Arch Dis Child. 1970 Oct;45(243):690-5. doi: 10.1136/adc.45.243.690.

DOI:10.1136/adc.45.243.690
PMID:5477684
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1647491/
Abstract

An inherited disorder characterized by a combination of lymphoedema and intrahepatic cholestasis is described in a Norwegian kindred. The jaundice is evident soon after birth, and recurrent episodes occur throughout life. The oedema starts at about school age and subsequently progresses; it is due to hypoplasia of the lymph vessels of the lower extremities. The cause of the cholestasis has not been established, but a structural intrahepatic developmental defect is suggested.

摘要

在一个挪威家族中描述了一种以淋巴水肿和肝内胆汁淤积为特征的遗传性疾病。黄疸在出生后不久就很明显，并且在一生中会反复发作。水肿大约在学龄期开始，随后进展；这是由于下肢淋巴管发育不全所致。胆汁淤积的原因尚未确定，但提示存在肝内结构性发育缺陷。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/ca7a5c570eb8/archdisch00883-0106-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/e8e6d56470c0/archdisch00883-0104-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/7a9848a08976/archdisch00883-0104-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/d568b9beab19/archdisch00883-0105-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/6814acdeb2b4/archdisch00883-0105-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/ca7a5c570eb8/archdisch00883-0106-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/e8e6d56470c0/archdisch00883-0104-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/7a9848a08976/archdisch00883-0104-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/d568b9beab19/archdisch00883-0105-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/6814acdeb2b4/archdisch00883-0105-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf2a/1647491/ca7a5c570eb8/archdisch00883-0106-a.jpg

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Lymphoedema in hereditary recurrent cholestasis from birth.先天性遗传性复发性胆汁淤积症中的淋巴水肿。
Arch Dis Child. 1970 Oct;45(243):690-5. doi: 10.1136/adc.45.243.690.
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引用本文的文献

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CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.两兄弟姊妹均存在 CCBE1 突变，其中一人表现为淋巴水肿-胆汁淤积综合征，另一人表现为胎儿水肿。
PLoS One. 2013 Sep 26;8(9):e75770. doi: 10.1371/journal.pone.0075770. eCollection 2013.
2
Clinical aspects of familial cholestasis (with molecular explanations).
Curr Gastroenterol Rep. 1999 Jun;1(3):223-30. doi: 10.1007/s11894-999-0039-x.
3
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.胆汁淤积-淋巴水肿综合征（阿格内斯综合征）基因座定位于15号染色体长臂上一个6.6厘摩的区间。

本文引用的文献

1
Chronic hereditary lymphedema (Nonne-Milroy-Meige's Disease).
Acta Med Scand. 1950;137(3):198-216. doi: 10.1111/j.0954-6820.1950.tb13188.x.
2
Lymphangiography; a technique for its clinical use in the lower limb.淋巴管造影术；一种在下肢临床应用的技术。
Br Med J. 1955 Apr 16;1(4919):940-2. doi: 10.1136/bmj.1.4919.940.
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CONGENITAL HEREDITARY LYMPHOEDEMA.先天性遗传性淋巴水肿
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The swollen leg and primary lymphoedema.腿部肿胀与原发性淋巴水肿。
Arch Dis Child. 1994 Jul;71(1):44-9. doi: 10.1136/adc.71.1.44.
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Long-term prognosis for infants with intrahepatic cholestasis and patent extrahepatic biliary tract.肝内胆汁淤积且肝外胆道通畅的婴儿的长期预后
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CHYLOUS COMPLICATIONS OF PRIMARY LYMPHOEDEMA.原发性淋巴水肿的乳糜性并发症
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5
SYSTEMIC LYMPHATIC ABNORMALITIES ASSOCIATED WITH GASTROINTESTINAL PROTEIN LOSS SECONDARY TO INTESTINAL LYMPHANGIECTASIA.与继发于肠淋巴管扩张症的胃肠道蛋白丢失相关的系统性淋巴异常。
Gastroenterology. 1963 Dec;45:703-11.
6
Congenital defects of lymphatics in infancy.婴儿期淋巴管先天性缺陷。
Pediatrics. 1957 Jan;19(1):21-35.
7
Hereditary recurrent intrahepatic cholestasis from birth.自出生起即患遗传性复发性肝内胆汁淤积症。
Arch Dis Child. 1968 Dec;43(232):646-57. doi: 10.1136/adc.43.232.646.