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Secondary amyloidosis in glycogen storage disease type Ib.

作者信息

Kikuchi M, Haginoya K, Miyabayashi S, Igarashi Y, Narisawa K, Tada K

机构信息

Department of Paediatrics, Tohoku University School of Medicine, Sendai, Japan.

出版信息

Eur J Pediatr. 1990 Feb;149(5):344-5. doi: 10.1007/BF02171563.

DOI:10.1007/BF02171563
PMID:2311631
Abstract

We observed the development of generalized amyloidosis in a girl with glycogen storage disease type Ib (GSD-Ib) who showed neutropenia, neutrophil dysfunction and recurrent infections. Renal and thyroid biopsies showed secondary amyloidosis, characterized by the presence of potassium permanganate sensitive Dylon positive deposits in glomeruli, renal vessels and thyroid interstitium. Immunohistochemistry showed that the deposits were composed of amyloid A (AA) protein. Possibly neutrophil abnormalities are involved in the pathogenesis of amyloidosis.

摘要

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本文引用的文献

1
Prolonged dimethylsulphoxide treatment in 13 patients with systemic amyloidosis.对13例系统性淀粉样变性患者进行二甲亚砜延长治疗。
Ann Rheum Dis. 1982 Dec;41(6):587-92. doi: 10.1136/ard.41.6.587.
2
DMSO and colchicine therapy in amyloid disease.二甲基亚砜和秋水仙碱治疗淀粉样变性疾病
Ann Rheum Dis. 1984 Jun;43(3):421-3. doi: 10.1136/ard.43.3.421.
3
Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib.糖原贮积病Ib型中多形核白细胞代谢功能受损。
1b型糖原贮积病：感染性并发症及预防措施
Eur J Pediatr. 1993;152 Suppl 1:S49-51. doi: 10.1007/BF02072088.
4
Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.I型糖原贮积病：肾脏受累、发病机制及其治疗
Pediatr Nephrol. 1991 Jan;5(1):71-6. doi: 10.1007/BF00852851.
Eur J Pediatr. 1983 Sep;140(4):329-30. doi: 10.1007/BF00442674.
4
Neutropenia and impaired neutrophil migration in type IB glycogen storage disease.1型糖原贮积病中的中性粒细胞减少及中性粒细胞迁移受损
J Pediatr. 1980 Dec;97(6):906-10. doi: 10.1016/s0022-3476(80)80418-5.
5
Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.I型糖原贮积病是由微粒体葡萄糖-6-磷酸酶系统的葡萄糖-6-磷酸转运酶缺陷引起的。
J Biol Chem. 1980 Sep 25;255(18):8381-4.
6
A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type IB.1型糖原贮积病肝微粒体膜中葡萄糖-6-磷酸转运系统缺陷的直接证据。
Biochem Biophys Res Commun. 1984 Mar 15;119(2):593-7. doi: 10.1016/s0006-291x(84)80290-9.
7
The amino acid sequence of a major nonimmunoglobulin component of some amyloid fibrils.某些淀粉样纤维主要非免疫球蛋白成分的氨基酸序列。
J Clin Invest. 1972 Oct;51(10):2773-6. doi: 10.1172/JCI107098.
8
Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses.淀粉样纤维蛋白：通过序列分析证明与免疫球蛋白轻链的同源性。
Science. 1971 Jun 11;172(3988):1150-1. doi: 10.1126/science.172.3988.1150.
9
Secondary amyloidosis in Crohn's disease of childhood.儿童克罗恩病中的继发性淀粉样变性
J Pediatr Gastroenterol Nutr. 1986 Sep-Oct;5(5):816-21. doi: 10.1097/00005176-198609000-00027.
10
Inflammatory bowel disease in glycogen storage disease type Ib.糖原贮积病Ib型中的炎症性肠病
J Pediatr. 1986 Jul;109(1):55-9. doi: 10.1016/s0022-3476(86)80572-8.