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肝功能障碍伴胰腺功能不全和周期性中性粒细胞减少症。施瓦赫曼-戴蒙德综合征。

Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.

作者信息

Brueton M J, Mavromichalis J, Goodchild M C, Anderson C M

出版信息

Arch Dis Child. 1977 Jan;52(1):76-8. doi: 10.1136/adc.52.1.76.

DOI:10.1136/adc.52.1.76
PMID:836058
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1546231/
Abstract

A patient with pancreatic insufficiency and cyclical neutropenia is described who also has evidence of hepatic dysfunction. He and 3 other patients whose findings are given emphasize the wide range of abnormalities seen in this syndrome.

摘要

本文描述了一名患有胰腺功能不全和周期性中性粒细胞减少症且有肝功能障碍证据的患者。他以及另外3名给出了检查结果的患者，突出了该综合征中所见异常的广泛范围。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f77f/1546231/b63ce71fc9c8/archdisch00821-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f77f/1546231/b63ce71fc9c8/archdisch00821-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f77f/1546231/b63ce71fc9c8/archdisch00821-0082-a.jpg

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Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.肝功能障碍伴胰腺功能不全和周期性中性粒细胞减少症。施瓦赫曼-戴蒙德综合征。
Arch Dis Child. 1977 Jan;52(1):76-8. doi: 10.1136/adc.52.1.76.
2
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Two mutations in the gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.基因中的两个突变提示该具有非典型症状的患者患有 Shwachman-Diamond 综合征。
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本文引用的文献

1
THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.胰腺功能不全与骨髓功能障碍综合征
J Pediatr. 1964 Nov;65:645-63. doi: 10.1016/s0022-3476(64)80150-5.
2
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.先天性外分泌胰腺发育不全
Acta Paediatr (Stockh). 1964 May;53:282-93. doi: 10.1111/j.1651-2227.1964.tb07237.x.
3
Pancreatic insufficiency with bone marrow dysfunction (Shwachman-Diamond-Oski-Khaw's syndrome). Report of a case.
Tohoku J Exp Med. 1967 May;92(1):1-12. doi: 10.1620/tjem.92.1.
施瓦赫曼-戴蒙德综合征：临床表现、分子发病机制、诊断及治疗综述
Hematol Oncol Clin North Am. 2009 Apr;23(2):233-48. doi: 10.1016/j.hoc.2009.01.007.
4
Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.某些常见变异型免疫缺陷病例可能归因于施-戴二氏综合征的SBDS基因突变。
Clin Exp Immunol. 2008 Mar;151(3):448-54. doi: 10.1111/j.1365-2249.2007.03556.x. Epub 2008 Jan 10.
5
Shwachman's syndrome. A review of 21 cases.施瓦赫曼综合征。21例病例综述。
Arch Dis Child. 1980 May;55(5):331-47. doi: 10.1136/adc.55.5.331.
6
A case of Shwachman syndrome with increased spontaneous chromosome breakage.
Hum Genet. 1987 Nov;77(3):289-91. doi: 10.1007/BF00284489.
7
Hepatic dysfunction and dysgammaglobulinaemia in Shwachman-Diamond syndrome.施瓦赫曼-戴蒙德综合征中的肝功能障碍和γ球蛋白血症异常
Arch Dis Child. 1978 Aug;53(8):693-4. doi: 10.1136/adc.53.8.693-b.
4
Association of pancreatic insufficiency and chronic neutropenia in childhood.
Arch Dis Child. 1967 Apr;42(222):147-57. doi: 10.1136/adc.42.222.147.
5
Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia.
Clin Pediatr (Phila). 1968 Jul;7(7):419-22. doi: 10.1177/000992286800700715.
6
Two brothers with congenital pancreatic exocrine insufficiency, neutropenia and dysgammaglobulinaemia.两兄弟患有先天性胰腺外分泌功能不全、中性粒细胞减少症和免疫球蛋白异常血症。
Proc R Soc Med. 1973 Nov;66(11):1125-6. doi: 10.1177/003591577306601133.
7
Schwachman's syndrome: the broad spectrum of bony abnormalities.施瓦赫曼综合征：广泛的骨骼异常表现
Radiology. 1974 Jul;112(1):167-73. doi: 10.1148/112.1.167.
8
Pancreatic insufficiency and neutropenia with associated immunoglobulin deficit.
Arch Intern Med. 1970 Feb;125(2):314-6.