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一例脯氨酰肽酶缺乏症尸检病例。

An autopsy case of prolidase deficiency.

作者信息

Sekiya M, Ohnishi Y, Kimura K

出版信息

Virchows Arch A Pathol Anat Histopathol. 1985;406(1):125-31. doi: 10.1007/BF00710562.

DOI:10.1007/BF00710562
PMID:3922107
Abstract

A 25-year-old female who suffered from longstanding incurable leg ulcers was found to have prolidase deficiency with iminodipeptiduria. On ultrastructural studies of autopsy specimens, the lamina densa of the epidermal basement membrane was found to show irregular splitting and the basement membranes of the dermal blood vessels were lamellated with interruptions. Lamellar changes and splitting of the basement membranes of the renal tubules, interstitial blood vessels and glomerular capillaries also occurred. These morphological abnormalities seem to be one of causes of the clinical symptomatology.

摘要

一名患有长期无法治愈的腿部溃疡的25岁女性被发现患有氨肽酶缺乏症并伴有亚氨基二肽尿症。在尸检标本的超微结构研究中,发现表皮基底膜的致密层显示出不规则分裂,真皮血管的基底膜呈层状且有中断。肾小管、间质血管和肾小球毛细血管的基底膜也出现了层状变化和分裂。这些形态学异常似乎是临床症状的原因之一。

相似文献

1
An autopsy case of prolidase deficiency.一例脯氨酰肽酶缺乏症尸检病例。
Virchows Arch A Pathol Anat Histopathol. 1985;406(1):125-31. doi: 10.1007/BF00710562.
2
Prolidase deficiency. A metabolic disorder presenting with dermatologic signs.脯氨酰肽酶缺乏症。一种表现为皮肤症状的代谢紊乱疾病。
Int J Dermatol. 1986 Sep;25(7):431-3. doi: 10.1111/j.1365-4362.1986.tb03446.x.
3
Pathogenesis of ulcerations in deficiency of prolidase. The role of angiopathy and of deposits of amyloid.脯氨酰二肽酶缺乏症中溃疡形成的发病机制。血管病变和淀粉样沉积物的作用。
Am J Dermatopathol. 1984 Oct;6(5):491-7. doi: 10.1097/00000372-198410000-00013.
4
Prolidase deficiency: its dermatological manifestations and some additional biochemical studies.
Arch Dermatol. 1979 Jan;115(1):62-7. doi: 10.1001/archderm.115.1.62.
5
Prolidase deficiency.
Int J Dermatol. 2002 Jan;41(1):45-8. doi: 10.1046/j.1365-4362.2002.1353_2.x.
6
[A case of prolidase deficiency with leg ulcers, hypoparathyroidism and imidodipeptiduria (author's transl)].一例伴有腿部溃疡、甲状旁腺功能减退和亚氨基二肽尿症的脯氨酰肽酶缺乏症(作者译)
Nihon Naika Gakkai Zasshi. 1980 Jan 10;69(1):59-65.
7
Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.常染色体隐性二肽基肽酶缺乏症。三名患有顽固性溃疡的患者。
Arch Dermatol. 1981 Nov;117(11):689-97.
8
[Hereditary prolidase deficiency in 2 sisters with therapy-resistant leg ulcers].
Hautarzt. 1988 Apr;39(4):247-9.
9
Prolidase deficiency: the use of topical proline for treatment of leg ulcers.脯氨肽酶缺乏症:外用脯氨酸治疗腿部溃疡
Australas J Dermatol. 2008 Nov;49(4):237-8. doi: 10.1111/j.1440-0960.2008.00485.x.
10
[Prolidase and manganese deficiency. Apropos of a case: diagnosis and treatment].
Ann Dermatol Venereol. 1982;109(8):667-78.

引用本文的文献

1
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.脯氨酸肽酶缺乏症自然病史的定量分析:17 个家系的描述及已发表病例的系统回顾
Genet Med. 2021 Sep;23(9):1604-1615. doi: 10.1038/s41436-021-01200-2. Epub 2021 May 26.
2
Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.通过外显子组测序诊断为脯氨酰肽酶缺乏症的患者中鉴定出的PEPD基因新复合杂合变异体的结构分析。
Genet Mol Biol. 2021 Apr 19;44(2):e20200393. doi: 10.1590/1678-4685-GMB-2020-0393. eCollection 2021.
3

本文引用的文献

1
Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.常染色体隐性二肽基肽酶缺乏症。三名患有顽固性溃疡的患者。
Arch Dermatol. 1981 Nov;117(11):689-97.
2
Studies on prolidase deficiency with a possible defect in collagen metabolism.关于可能存在胶原代谢缺陷的脯氨酰肽酶缺乏症的研究。
Tohoku J Exp Med. 1981 May;134(1):21-8. doi: 10.1620/tjem.134.21.
3
Prolidase deficiency: an inborn error of metabolism with major dermatological manifestations.脯氨酰肽酶缺乏症:一种具有主要皮肤表现的先天性代谢紊乱疾病。
The effect of estrogen on prolidase-dependent regulation of HIF-1α expression in breast cancer cells.
雌激素对乳腺癌细胞中脯氨酰内肽酶依赖性调节 HIF-1α 表达的影响。
Mol Cell Biochem. 2013 Jul;379(1-2):29-36. doi: 10.1007/s11010-013-1623-9. Epub 2013 Apr 3.
4
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.伴发系统性红斑狼疮的脯氨酰内肽酶缺乏症:单中心经验与文献复习。
Pediatr Rheumatol Online J. 2012 Jun 22;10(1):18. doi: 10.1186/1546-0096-10-18.
Dermatologica. 1982 May;164(5):293-304. doi: 10.1159/000250106.
4
Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiency.来自一名氨肽酶缺乏症患者的皮肤成纤维细胞合成的胶原蛋白中脯氨酸的正常羟基化。
J Inherit Metab Dis. 1982;5(2):111-3. doi: 10.1007/BF01800003.
5
Prolidase deficiency with iminodipeptiduria: biochemical investigations and first results of attempted therapy.伴有亚氨基二肽尿症的脯氨酰寡肽酶缺乏症:生化研究及尝试性治疗的初步结果
J Inherit Metab Dis. 1981;4(2):77-8. doi: 10.1007/BF02263599.
6
Prolidase deficiency.脯氨酰肽酶缺乏症
Acta Paediatr Scand. 1983 Sep;72(5):785-8. doi: 10.1111/j.1651-2227.1983.tb09815.x.
7
Secretion of collagen by embryonic neuroepithelium at the time of spinal cord--somite interaction.脊髓与体节相互作用时胚胎神经上皮分泌胶原蛋白。
Dev Biol. 1971 Dec;26(4):578-605. doi: 10.1016/0012-1606(71)90142-4.
8
A syndrome resembling lathyrism associated with iminodipeptiduria.一种与亚氨基二肽尿症相关的类似山黧豆中毒的综合征。
Am J Med. 1968 Jul;45(1):152-9. doi: 10.1016/0002-9343(68)90016-8.
9
A prolidase deficiency in man with iminopeptiduria.一名患有亚氨基肽尿症的男性存在脯氨酰二肽酶缺乏症。
Metabolism. 1974 Jun;23(6):505-13. doi: 10.1016/0026-0495(74)90078-x.
10
Further studies on a patient with iminodipeptiduria: a probable case of prolidase deficiency.
Metabolism. 1972 Dec;21(12):1113-23. doi: 10.1016/0026-0495(72)90106-0.