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本文引用的文献

1
Congenital nephrotic syndrome responsive to captopril and indometacin.对卡托普利和吲哚美辛有反应的先天性肾病综合征
Arch Dis Child. 1999 Aug;81(2):174-5. doi: 10.1136/adc.81.2.174.
2
Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families.爱尔兰家庭中芬兰型先天性肾病综合征的预后改善。
Arch Dis Child. 1999 May;80(5):466-9. doi: 10.1136/adc.80.5.466.
3
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.芬兰型先天性肾病综合征基因（NPHS1）的结构及突变特征
Am J Hum Genet. 1999 Jan;64(1):51-61. doi: 10.1086/302182.
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Congenital nephrotic syndrome.
Kidney Int Suppl. 1996 Jan;53:S51-6.
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Successful treatment of Finnish congenital nephrotic syndrome with captopril and indomethacin.卡托普利和吲哚美辛成功治疗芬兰先天性肾病综合征
J Pediatr. 1995 Jan;126(1):140-2. doi: 10.1016/s0022-3476(95)70518-x.
6
Management of congenital nephrotic syndrome of the Finnish type.芬兰型先天性肾病综合征的管理
Pediatr Nephrol. 1995 Feb;9(1):87-93. doi: 10.1007/BF00858984.
7
Postural deformities in congenital nephrotic syndrome.先天性肾病综合征中的姿势性畸形。
Arch Dis Child. 1981 Dec;56(12):959-62. doi: 10.1136/adc.56.12.959.
8
Heredity in the congenital nephrotic syndrome. A genetic study of 57 finnish FAMILIES WITH A REVIEW OF REPORTED CASES.
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The nephrotic syndrome.
Pediatr Clin North Am. 1971 May;18(2):547-59. doi: 10.1016/s0031-3955(16)32565-2.
10
Congenital nephrotic syndrome of Finnish type. Study of 75 patients.芬兰型先天性肾病综合征。75例患者的研究。
Arch Dis Child. 1976 May;51(5):344-8. doi: 10.1136/adc.51.5.344.

芬兰型先天性肾病综合征

Congenital nephrotic syndrome of the finnish type.

作者信息

Badoe Ev, Kumoji R

机构信息

Department of Child Health, University of Ghana Medical School, Accra, Ghana.

出版信息

Ghana Med J. 2008 Mar;42(1):42-4.

PMID:18560552
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2423334/
Abstract

SummaryCongenital Nephrotic Syndrome of the Finish type (CNF) is a rare and severe disease. A neonate with CNF is described. The diagnosis carries a dramatically poorer prognosis than nephrotic syndrome diagnosed after one year. The clinical course is one of persistent oedema and recurrent infections leading to death. The gene for the Finish type has been mapped to the long arm of chromosome 19. Case reports show it to be responsive to captopril and indomethacin. It is uniformly resistant to steroids and immunosuppressive drugs.

摘要

摘要

芬兰型先天性肾病综合征（CNF）是一种罕见的严重疾病。本文描述了一名患有CNF的新生儿。与一岁后诊断的肾病综合征相比，该诊断的预后明显更差。临床病程表现为持续性水肿和反复感染，最终导致死亡。芬兰型的基因已被定位到19号染色体长臂。病例报告显示其对卡托普利和吲哚美辛有反应。它对类固醇和免疫抑制药物均有耐药性。